MyHealth@Eu Laboratory Report
0.1.1 - trial-use
150
This page is part of the MyHealth@Eu Laboratory Report (v0.1.1: Wave 8) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
Official URL: http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease | Version: 0.1.1 | |||
Standards status: Trial-use | Maturity Level: 2 | Computable Name: EHDSIRareDisease | ||
Other Identifiers: OID:1.3.6.1.4.1.12559.11.10.1.3.1.42.63 | ||||
Copyright/Legal: Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr) |
The Value Set is used to describe the problems and medication reasons.
References
Generated Narrative: ValueSet eHDSIRareDisease
urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5
Code | Display |
5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
6 | 3-methylcrotonyl-CoA carboxylase deficiency |
7 | 3C syndrome |
8 | 47,XYY syndrome |
9 | Tetrasomy X |
10 | 48,XXYY syndrome |
11 | Pentasomy X |
13 | 6-pyruvoyl-tetrahydropterin synthase deficiency |
14 | Abetalipoproteinemia |
15 | Achondroplasia |
16 | Blue cone monochromatism |
17 | Fatal infantile lactic acidosis with methylmalonic aciduria |
18 | Distal renal tubular acidosis |
20 | 3-hydroxy-3-methylglutaric aciduria |
22 | Succinic semialdehyde dehydrogenase deficiency |
23 | Argininosuccinic aciduria |
24 | Fumaric aciduria |
25 | Glutaryl-CoA dehydrogenase deficiency |
26 | Methylmalonic acidemia with homocystinuria |
27 | Vitamin B12-unresponsive methylmalonic acidemia |
28 | Vitamin B12-responsive methylmalonic acidemia |
29 | Mevalonic aciduria |
30 | Hereditary orotic aciduria |
31 | Oxoglutaric aciduria |
32 | Glutathione synthetase deficiency |
33 | Isovaleric acidemia |
35 | Propionic acidemia |
36 | Acrocallosal syndrome |
37 | Acrodermatitis enteropathica |
38 | Acrokeratoelastoidosis of Costa |
39 | Acromelanosis |
40 | Acromesomelic dysplasia, Maroteaux type |
41 | Dyschromatosis symmetrica hereditaria |
42 | Medium chain acyl-CoA dehydrogenase deficiency |
43 | X-linked adrenoleukodystrophy |
44 | Neonatal adrenoleukodystrophy |
45 | Adenosine monophosphate deaminase deficiency |
46 | Adenylosuccinate lyase deficiency |
47 | X-linked agammaglobulinemia |
48 | Congenital bilateral absence of vas deferens |
49 | Penile agenesis |
50 | Aicardi syndrome |
51 | Aicardi-Goutières syndrome |
52 | Alagille syndrome |
53 | Albers-Schönberg osteopetrosis |
54 | X-linked recessive ocular albinism |
56 | Alkaptonuria |
57 | Glycogen storage disease due to aldolase A deficiency |
58 | Alexander disease |
59 | Allan-Herndon-Dudley syndrome |
60 | Alpha-1-antitrypsin deficiency |
61 | Alpha-mannosidosis |
62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 |
63 | Alport syndrome |
64 | Alström syndrome |
65 | Leber congenital amaurosis |
67 | Amoebiasis due to Entamoeba histolytica |
68 | Amoebiasis due to free-living amoebae |
70 | Proximal spinal muscular atrophy |
71 | Chylomicron retention disease |
72 | Angelman syndrome |
73 | Gorham-Stout disease |
74 | Angiostrongyliasis |
76 | Strongyloidiasis |
78 | Ankylostomiasis |
79 | Congenital alpha2-antiplasmin deficiency |
80 | Antiphospholipid syndrome |
81 | Antisynthetase syndrome |
82 | Hereditary thrombophilia due to congenital antithrombin deficiency |
83 | Antley-Bixler syndrome |
84 | Fanconi anemia |
86 | Familial abdominal aortic aneurysm |
87 | Apert syndrome |
88 | Idiopathic aplastic anemia |
90 | Argininemia |
91 | Aromatase deficiency |
93 | Aspartylglucosaminuria |
95 | Friedreich ataxia |
96 | Ataxia with vitamin E deficiency |
97 | Familial paroxysmal ataxia |
98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
100 | Ataxia-telangiectasia |
101 | Dentatorubral pallidoluysian atrophy |
102 | Multiple system atrophy |
104 | Leber hereditary optic neuropathy |
105 | Atresia of urethra |
107 | BOR syndrome |
108 | Babesiosis |
109 | Bannayan-Riley-Ruvalcaba syndrome |
110 | Bardet-Biedl syndrome |
111 | Barth syndrome |
112 | Bartter syndrome |
113 | Bazex-Dupré-Christol syndrome |
114 | Auriculoosteodysplasia |
115 | Congenital contractural arachnodactyly |
116 | Beckwith-Wiedemann syndrome |
117 | Behçet disease |
118 | Beta-mannosidosis |
119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 |
122 | Birt-Hogg-Dubé syndrome |
123 | Björnstad syndrome |
124 | Diamond-Blackfan anemia |
125 | Bloom syndrome |
126 | Blepharophimosis-ptosis-epicanthus inversus syndrome |
127 | Borjeson-Forssman-Lehmann syndrome |
128 | Diphyllobothriasis |
129 | Pseudopelade of Brocq |
130 | Brugada syndrome |
131 | Budd-Chiari syndrome |
132 | Hereditary butyrylcholinesterase deficiency |
133 | Chronic beryllium disease |
134 | Beta-ketothiolase deficiency |
135 | CACH syndrome |
136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy |
138 | CHARGE syndrome |
139 | CHILD syndrome |
140 | Campomelic dysplasia |
141 | Canavan disease |
142 | Anaplastic thyroid carcinoma |
143 | Parathyroid carcinoma |
144 | Lynch syndrome |
145 | Hereditary breast and/or ovarian cancer syndrome |
146 | Differentiated thyroid carcinoma |
147 | Carbamoyl-phosphate synthetase 1 deficiency |
150 | Nasopharyngeal carcinoma |
154 | Familial isolated dilated cardiomyopathy |
156 | Carnitine palmitoyl transferase 1A deficiency |
157 | Carnitine palmitoyltransferase II deficiency |
158 | Systemic primary carnitine deficiency |
159 | Carnitine-acylcarnitine translocase deficiency |
160 | Castleman disease |
162 | Congenital cataract-anterior segment dysgenesis syndrome |
163 | Hereditary hyperferritinemia-cataract syndrome |
167 | Chédiak-Higashi syndrome |
168 | Loose anagen syndrome |
169 | Ringed hair disease |
170 | Woolly hair |
171 | Primary sclerosing cholangitis |
172 | Progressive familial intrahepatic cholestasis |
173 | Cholera |
174 | Metaphyseal chondrodysplasia, Schmid type |
175 | Cartilage-hair hypoplasia |
177 | Rhizomelic chondrodysplasia punctata |
178 | Chordoma |
179 | Birdshot chorioretinopathy |
180 | Choroideremia |
181 | X-linked hypohidrotic ectodermal dysplasia |
182 | Chromomycosis |
183 | Eosinophilic granulomatosis with polyangiitis |
184 | Cherubism |
185 | Scimitar syndrome |
186 | Primary biliary cholangitis |
188 | Systemic capillary leak syndrome |
189 | Hidrotic ectodermal dysplasia |
190 | Coats disease |
191 | Cockayne syndrome |
192 | Coffin-Lowry syndrome |
193 | Cohen syndrome |
195 | Cat-eye syndrome |
198 | Occipital horn syndrome |
199 | Cornelia de Lange syndrome |
200 | Isolated corpus callosum agenesis |
201 | Cowden syndrome |
202 | Crandall syndrome |
204 | Sporadic Creutzfeldt-Jakob disease |
205 | Crigler-Najjar syndrome |
207 | Crouzon syndrome |
210 | Cyclosporiasis |
211 | Familial cylindromatosis |
212 | Cystathioninuria |
213 | Cystinosis |
214 | Cystinuria |
215 | Congenital stationary night blindness |
217 | Isolated Dandy-Walker malformation |
218 | Darier disease |
219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 |
220 | Denys-Drash syndrome |
221 | Dermatomyositis |
222 | Erosive pustular dermatosis of the scalp |
223 | Arginine vasopressin resistance |
226 | Dihydropteridine reductase deficiency |
227 | Diphallia |
229 | Familial aortic dissection |
230 | Dopamine beta-hydroxylase deficiency |
231 | Dracunculiasis |
232 | Sickle cell anemia |
233 | Duane retraction syndrome |
234 | Dubin-Johnson syndrome |
235 | Dubowitz syndrome |
236 | Trisomy 9p |
237 | Duplication of urethra |
239 | Dyggve-Melchior-Clausen disease |
240 | Léri-Weill dyschondrosteosis |
241 | Dyschromatosis universalis hereditaria |
242 | 46,XY complete gonadal dysgenesis |
243 | 46,XX gonadal dysgenesis |
244 | Primary ciliary dyskinesia |
245 | Nager syndrome |
246 | Postaxial acrofacial dysostosis |
248 | Autosomal recessive hypohidrotic ectodermal dysplasia |
249 | Fibrous dysplasia of bone |
256 | Early-onset generalized limb-onset dystonia |
257 | Epidermolysis bullosa simplex with muscular dystrophy |
258 | Laminin subunit alpha 2-related congenital muscular dystrophy |
261 | Emery-Dreifuss muscular dystrophy |
266 | Autosomal dominant limb-girdle muscular dystrophy type 1A |
267 | Calpain-3-related limb-girdle muscular dystrophy R1 |
268 | Dysferlin-related limb-girdle muscular dystrophy R2 |
269 | Facioscapulohumeral dystrophy |
270 | Oculopharyngeal muscular dystrophy |
272 | Congenital muscular dystrophy, Fukuyama type |
273 | Steinert myotonic dystrophy |
274 | Bernard-Soulier syndrome |
275 | Severe combined immunodeficiency due to DCLRE1C deficiency |
276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency |
277 | Severe combined immunodeficiency due to adenosine deaminase deficiency |
280 | Wolf-Hirschhorn syndrome |
281 | Monosomy 5p |
283 | Demodicidosis |
284 | Alveolar echinococcosis |
285 | Hypermobile Ehlers-Danlos syndrome |
286 | Vascular Ehlers-Danlos syndrome |
287 | Classical Ehlers-Danlos syndrome |
288 | Hereditary elliptocytosis |
289 | Ellis Van Creveld syndrome |
290 | Congenital rubella syndrome |
291 | Congenital varicella syndrome |
292 | Congenital enterovirus infection |
293 | Congenital herpes simplex virus infection |
294 | Fetal cytomegalovirus syndrome |
295 | Fetal parvovirus syndrome |
296 | Ollier disease |
297 | Tick-borne encephalitis |
298 | Mitochondrial neurogastrointestinal encephalomyopathy |
300 | Bifunctional enzyme deficiency |
302 | Inherited epidermodysplasia verruciformis |
306 | Benign familial infantile epilepsy |
307 | Juvenile myoclonic epilepsy |
308 | Progressive myoclonic epilepsy type 1 |
312 | Autosomal dominant epidermolytic ichthyosis |
313 | Lamellar ichthyosis |
314 | Erythroderma desquamativum |
315 | Erythrokeratoderma ''en cocardes'' |
316 | Progressive symmetric erythrokeratodermia |
317 | Erythrokeratodermia variabilis |
318 | Acute erythroid leukemia |
319 | Skeletal Ewing sarcoma |
320 | Apparent mineralocorticoid excess |
321 | Multiple osteochondromas |
322 | Exstrophy-epispadias complex |
324 | Fabry disease |
325 | Congenital factor II deficiency |
326 | Congenital factor V deficiency |
327 | Congenital factor VII deficiency |
328 | Congenital factor X deficiency |
329 | Congenital factor XI deficiency |
330 | Congenital factor XII deficiency |
331 | Congenital factor XIII deficiency |
332 | Congenital intrinsic factor deficiency |
333 | Farber disease |
334 | Familial atrial fibrillation |
335 | Congenital fibrinogen deficiency |
337 | Fibrodysplasia ossificans progressiva |
340 | Hemorrhagic fever-renal syndrome |
342 | Familial Mediterranean fever |
343 | Hyperimmunoglobulinemia D with periodic fever |
345 | Dissecting cellulitis of the scalp |
346 | Quinquaud folliculitis decalvans |
347 | Frasier syndrome |
348 | Fructose-1,6-bisphosphatase deficiency |
349 | Fucosidosis |
351 | Galactosialidosis |
353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
354 | GM1 gangliosidosis |
355 | Gaucher disease |
356 | Gerstmann-Straussler-Scheinker syndrome |
358 | Gitelman syndrome |
360 | Glioblastoma |
361 | Familial glucocorticoid deficiency |
364 | Glycogen storage disease due to glucose-6-phosphatase deficiency |
365 | Glycogen storage disease due to acid maltase deficiency |
366 | Glycogen storage disease due to glycogen debranching enzyme deficiency |
367 | Glycogen storage disease due to glycogen branching enzyme deficiency |
368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency |
369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency |
371 | Glycogen storage disease due to muscle phosphofructokinase deficiency |
373 | Simpson-Golabi-Behmel syndrome |
375 | Anti-glomerular basement membrane disease |
376 | Gordon syndrome |
377 | Gorlin syndrome |
379 | Chronic granulomatous disease |
380 | Greig cephalopolysyndactyly syndrome |
381 | Griscelli syndrome |
382 | Guanidinoacetate methyltransferase deficiency |
384 | Huriez syndrome |
386 | Hepatic cystic hamartoma |
388 | Hirschsprung disease |
389 | Langerhans cell histiocytosis |
390 | Histoplasmosis |
391 | Classic Hodgkin lymphoma |
392 | Holt-Oram syndrome |
393 | 46,XX testicular difference of sex development |
394 | Homocystinuria due to cystathionine beta-synthase deficiency |
395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
396 | Chronic hiccup |
397 | Giant cell arteritis |
399 | Huntington disease |
400 | Cystic echinococcosis |
401 | Hymenolepiasis |
403 | Familial hyperaldosteronism type I |
404 | Familial hyperaldosteronism type II |
405 | Familial hypocalciuric hypercalcemia |
407 | Glycine encephalopathy |
408 | Isolated glycerol kinase deficiency |
409 | Hyperkeratosis lenticularis perstans |
412 | Dysbetalipoproteinemia |
414 | Gyrate atrophy of choroid and retina |
415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
416 | Primary hyperoxaluria |
417 | Neonatal severe primary hyperparathyroidism |
419 | Hyperprolinemia type 1 |
422 | Idiopathic/heritable pulmonary arterial hypertension |
423 | Malignant hyperthermia of anesthesia |
424 | Familial hyperthyroidism due to mutations in TSH receptor |
425 | Apolipoprotein A-I deficiency |
427 | Familial hypoaldosteronism |
428 | Autosomal dominant hypocalcemia |
429 | Hypochondroplasia |
432 | Normosmic congenital hypogonadotropic hypogonadism |
436 | Hypophosphatasia |
439 | Isolated right ventricular hypoplasia |
441 | Pure autonomic failure |
444 | Marie Unna hereditary hypotrichosis |
446 | Neonatal hemochromatosis |
447 | Paroxysmal nocturnal hemoglobinuria |
449 | Hepatoblastoma |
452 | X-linked lissencephaly with abnormal genitalia |
454 | Acquired ichthyosis |
455 | Superficial epidermolytic ichthyosis |
457 | Harlequin ichthyosis |
461 | Recessive X-linked ichthyosis |
464 | Incontinentia pigmenti |
465 | Congenital plasminogen activator inhibitor type 1 deficiency |
466 | Fatal familial insomnia |
469 | Hereditary fructose intolerance |
470 | Lysinuric protein intolerance |
472 | Isosporiasis |
474 | Jeune syndrome |
475 | Joubert syndrome |
477 | KID syndrome |
478 | Kallmann syndrome |
480 | Kearns-Sayre syndrome |
481 | Kennedy disease |
482 | Kimura disease |
483 | Congenital high-molecular-weight kininogen deficiency |
485 | Kniest dysplasia |
486 | Autosomal dominant severe congenital neutropenia |
487 | Krabbe disease |
488 | Urachal cyst |
490 | Omphalomesenteric cyst |
492 | Proliferating trichilemmal cyst |
493 | Familial keratoacanthoma |
494 | Keratoderma hereditarium mutilans |
495 | Transgrediens et progrediens palmoplantar keratoderma |
499 | Kerion celsi |
500 | Noonan syndrome with multiple lentigines |
501 | Lafora disease |
502 | Trichorhinophalangeal syndrome type 2 |
503 | Larsen syndrome |
504 | Creeping myiasis |
505 | Graham Little-Piccardi-Lassueur syndrome |
506 | Leigh syndrome |
507 | Leishmaniasis |
508 | Leprechaunism |
509 | Leptospirosis |
510 | Lesch-Nyhan syndrome |
511 | Maple syrup urine disease |
512 | Metachromatic leukodystrophy |
514 | Acute monoblastic/monocytic leukemia |
517 | Acute myelomonocytic leukemia |
518 | Acute megakaryoblastic leukemia |
520 | Acute promyelocytic leukemia |
521 | Chronic myeloid leukemia |
523 | Hereditary leiomyomatosis and renal cell cancer |
524 | Li-Fraumeni syndrome |
525 | Lichen planopilaris |
526 | Liddle syndrome |
528 | Congenital generalized lipodystrophy |
529 | Roch-Leri mesosomatous lipomatosis |
530 | Lipoid proteinosis |
531 | Miller-Dieker syndrome |
533 | Listeriosis |
534 | Oculocerebrorenal syndrome of Lowe |
536 | Systemic lupus erythematosus |
537 | Toxic epidermal necrolysis |
538 | Lymphangioleiomyomatosis |
540 | Familial hemophagocytic lymphohistiocytosis |
543 | Burkitt lymphoma |
545 | Follicular lymphoma |
548 | Leprosy |
549 | Legionnaires disease |
550 | MELAS |
551 | MERRF |
552 | MODY |
556 | Malakoplakia |
558 | Marfan syndrome |
559 | Marinesco-Sjögren syndrome |
560 | Marshall syndrome |
561 | Marshall-Smith syndrome |
562 | McCune-Albright syndrome |
563 | Peripartum cardiomyopathy |
564 | Meckel syndrome |
565 | Menkes disease |
566 | Congenital microcoria |
567 | 22q11.2 deletion syndrome |
568 | Microphthalmia, Lenz type |
569 | Familial or sporadic hemiplegic migraine |
570 | Moebius syndrome |
572 | Immunodeficiency by defective expression of MHC class II |
573 | Monilethrix |
574 | 21q deletion syndrome |
575 | Muckle-Wells syndrome |
576 | Mucolipidosis type II |
577 | Mucolipidosis type III |
578 | Mucolipidosis type IV |
579 | Mucopolysaccharidosis type 1 |
580 | Mucopolysaccharidosis type 2 |
581 | Mucopolysaccharidosis type 3 |
582 | Mucopolysaccharidosis type 4 |
583 | Mucopolysaccharidosis type 6 |
584 | Mucopolysaccharidosis type 7 |
585 | Multiple sulfatase deficiency |
586 | Cystic fibrosis |
588 | Muscle-eye-brain disease |
589 | Myasthenia gravis |
590 | Congenital myasthenic syndrome |
591 | Furuncular myiasis |
592 | Macrophagic myofasciitis |
596 | X-linked centronuclear myopathy |
597 | Central core disease |
598 | Multiminicore myopathy |
600 | Vocal cord and pharyngeal distal myopathy |
602 | GNE myopathy |
603 | Distal myopathy, Welander type |
606 | Proximal myotonic myopathy |
609 | Tibial muscular dystrophy |
610 | Bethlem muscular dystrophy |
611 | Inclusion body myositis |
614 | Thomsen and Becker disease |
615 | Familial atrial myxoma |
616 | Medulloblastoma |
617 | Congenital primary megaureter |
618 | Familial melanoma |
621 | Hereditary methemoglobinemia |
622 | Homocystinuria without methylmalonic aciduria |
624 | Familial multiple nevi flammei |
626 | Large congenital melanocytic nevus |
627 | Nance-Horan syndrome |
628 | Diastrophic dysplasia |
629 | Short stature due to growth hormone qualitative anomaly |
631 | Non-acquired isolated growth hormone deficiency |
632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia |
633 | Laron syndrome |
634 | Netherton syndrome |
635 | Neuroblastoma |
636 | Neurofibromatosis type 1 |
637 | Full NF2-related schwannomatosis |
638 | Neurofibromatosis-Noonan syndrome |
639 | Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG |
640 | Hereditary neuropathy with liability to pressure palsies |
641 | Multifocal motor neuropathy |
642 | Hereditary sensory and autonomic neuropathy type 4 |
643 | Giant axonal neuropathy |
644 | NARP syndrome |
646 | Niemann-Pick disease type C |
647 | Nijmegen breakage syndrome |
648 | Noonan syndrome |
649 | Norrie disease |
650 | LCAT deficiency |
652 | Multiple endocrine neoplasia type 1 |
653 | Multiple endocrine neoplasia type 2 |
654 | Nephroblastoma |
655 | Nephronophthisis |
656 | Genetic steroid-resistant nephrotic syndrome |
659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
660 | Omphalocele |
661 | Congenital central hypoventilation syndrome |
662 | Yellow nail syndrome |
663 | Mitochondrial DNA-related progressive external ophthalmoplegia |
664 | Ornithine transcarbamylase deficiency |
666 | Osteogenesis imperfecta |
667 | Autosomal recessive malignant osteopetrosis |
668 | Osteosarcoma |
672 | Pallister-Hall syndrome |
673 | Malaria |
674 | Accessory pancreas |
675 | Annular pancreas |
676 | Hereditary chronic pancreatitis |
677 | Pancreatoblastoma |
678 | Papillon-Lefèvre syndrome |
679 | Malignant atrophic papulosis |
681 | Hypokalemic periodic paralysis |
682 | Hyperkalemic periodic paralysis |
683 | Progressive supranuclear palsy |
684 | Paramyotonia congenita of Von Eulenburg |
699 | Pearson syndrome |
700 | Alopecia totalis |
701 | Alopecia universalis |
702 | Pelizaeus-Merzbacher disease |
703 | Bullous pemphigoid |
704 | Pemphigus vulgaris |
705 | Pendred syndrome |
707 | Plague |
708 | Peters anomaly |
709 | Peters plus syndrome |
710 | Pfeiffer syndrome |
712 | Hemolytic anemia due to glucophosphate isomerase deficiency |
713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
714 | Hemolytic anemia due to diphosphoglycerate mutase deficiency |
715 | Glycogen storage disease due to muscle phosphorylase kinase deficiency |
716 | Phenylketonuria |
718 | Isolated Pierre Robin syndrome |
720 | Pili bifurcati |
721 | Gray platelet syndrome |
722 | Hypoplasminogenemia |
723 | Pneumocystosis |
724 | Idiopathic acute eosinophilic pneumonia |
725 | Continuous spikes and waves during sleep |
726 | Alpers-Huttenlocher syndrome |
727 | Microscopic polyangiitis |
728 | Relapsing polychondritis |
729 | Polycythemia vera |
730 | Autosomal dominant polycystic kidney disease |
731 | Autosomal recessive polycystic kidney disease |
732 | Polymyositis |
733 | Familial adenomatous polyposis |
734 | Alpha delta granule deficiency |
735 | Porokeratosis of Mibelli |
737 | Porokeratosis plantaris palmaris et disseminata |
739 | Prader-Willi syndrome |
740 | Hutchinson-Gilford progeria syndrome |
741 | Familial mitral valve prolapse |
742 | Prolidase deficiency |
743 | Severe hereditary thrombophilia due to congenital protein S deficiency |
744 | Proteus syndrome |
745 | Severe hereditary thrombophilia due to congenital protein C deficiency |
746 | Mitochondrial trifunctional protein deficiency |
747 | Autoimmune pulmonary alveolar proteinosis |
749 | Congenital prekallikrein deficiency |
750 | Pseudoachondroplasia |
752 | 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
753 | 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency |
755 | Leydig cell hypoplasia |
756 | Pseudohypoaldosteronism type 1 |
757 | Pseudohypoaldosteronism type 2 |
758 | Pseudoxanthoma elasticum |
760 | Purine nucleoside phosphorylase deficiency |
761 | Immunoglobulin A vasculitis |
763 | Pycnodysostosis |
764 | Pyomyositis |
765 | Pyruvate dehydrogenase deficiency |
766 | Hemolytic anemia due to red cell pyruvate kinase deficiency |
767 | Polyarteritis nodosa |
769 | Rabson-Mendenhall syndrome |
770 | Rabies |
772 | Infantile Refsum disease |
773 | Refsum disease |
774 | Hereditary hemorrhagic telangiectasia |
776 | Lujan-Fryns syndrome |
777 | X-linked non-syndromic intellectual disability |
778 | Rett syndrome |
779 | Reynolds syndrome |
780 | Rhabdomyosarcoma |
781 | Q fever |
782 | Axenfeld-Rieger syndrome |
783 | Rubinstein-Taybi syndrome |
785 | Estrogen resistance syndrome |
786 | Generalized glucocorticoid resistance syndrome |
790 | Retinoblastoma |
791 | Retinitis pigmentosa |
792 | X-linked retinoschisis |
793 | SAPHO syndrome |
794 | Saethre-Chotzen syndrome |
796 | Sandhoff disease |
797 | Sarcoidosis |
798 | Schinzel-Giedion syndrome |
799 | Schizencephaly |
800 | Schwartz-Jampel syndrome |
803 | Amyotrophic lateral sclerosis |
805 | Tuberous sclerosis complex |
806 | Scott syndrome |
808 | Seckel syndrome |
809 | Mixed connective tissue disease |
810 | Shigellosis |
811 | Shwachman-Diamond syndrome |
812 | Sialidosis type 1 |
813 | Silver-Russell syndrome |
816 | Sjögren-Larsson syndrome |
818 | Smith-Lemli-Opitz syndrome |
819 | Smith-Magenis syndrome |
820 | Sneddon syndrome |
821 | Sotos syndrome |
822 | Hereditary spherocytosis |
824 | Primary myelofibrosis |
826 | Sporotrichosis |
827 | Stargardt disease |
828 | Stickler syndrome |
829 | Adult-onset Still disease |
831 | Congenital cervical spinal stenosis |
832 | Succinyl-CoA:3-oxoacid CoA transferase deficiency |
833 | Encephalopathy due to sulfite oxidase deficiency |
834 | Free sialic acid storage disease |
838 | Susac syndrome |
839 | Congenital nephrotic syndrome, Finnish type |
840 | Syringocystadenoma papilliferum |
841 | Sebocystomatosis |
842 | Testicular seminomatous germ cell tumor |
844 | Lown-Ganong-Levine syndrome |
845 | Tay-Sachs disease |
846 | Alpha-thalassemia |
847 | X-linked alpha-thalassemia-intellectual disability syndrome |
848 | Beta-thalassemia |
849 | Glanzmann thrombasthenia |
851 | Paris-Trousseau thrombocytopenia |
852 | X-linked thrombocytopenia with normal platelets |
853 | Fetal and neonatal alloimmune thrombocytopenia |
854 | Primitive portal vein thrombosis |
857 | Townes-Brocks syndrome |
858 | Congenital toxoplasmosis |
859 | Transcobalamin deficiency |
860 | Congenitally uncorrected transposition of the great arteries |
861 | Treacher-Collins syndrome |
863 | Trichinellosis |
864 | Trichofolliculoma |
867 | Familial multiple trichoepithelioma |
868 | Triose phosphate-isomerase deficiency |
869 | Triple A syndrome |
870 | Down syndrome |
871 | Familial progressive cardiac conduction defect |
873 | Desmoid tumor |
874 | Primary adult heart tumor |
875 | Primary pediatric heart tumor |
876 | Yolk sac tumor |
879 | Tungiasis |
881 | Turner syndrome |
882 | Tyrosinemia type 1 |
883 | Extragonadal teratoma |
884 | Tetrasomy 12p |
886 | Usher syndrome |
887 | VACTERL/VATER association |
888 | Van der Woude syndrome |
889 | Cutaneous small vessel vasculitis |
890 | Hepatic veno-occlusive disease |
891 | Familial exudative vitreoretinopathy |
892 | Von Hippel-Lindau disease |
893 | WAGR syndrome |
894 | Waardenburg syndrome type 1 |
895 | Waardenburg syndrome type 2 |
896 | Waardenburg syndrome type 3 |
897 | Waardenburg-Shah syndrome |
898 | Wagner disease |
899 | Walker-Warburg syndrome |
900 | Granulomatosis with polyangiitis |
901 | Wells syndrome |
902 | Werner syndrome |
903 | Von Willebrand disease |
904 | Williams syndrome |
905 | Wilson disease |
906 | Wiskott-Aldrich syndrome |
908 | Fragile X syndrome |
909 | Cerebrotendinous xanthomatosis |
910 | Xeroderma pigmentosum |
911 | Combined immunodeficiency due to ZAP70 deficiency |
912 | Zellweger syndrome |
913 | Zollinger-Ellison syndrome |
915 | Aarskog-Scott syndrome |
916 | Aase-Smith syndrome |
920 | Ablepharon macrostomia syndrome |
921 | Abruzzo-Erickson syndrome |
922 | Familial nasal acilia |
926 | Acatalasemia |
927 | Hyperammonemia due to N-acetylglutamate synthase deficiency |
929 | Achalasia-microcephaly syndrome |
930 | Idiopathic achalasia |
931 | Isolated acheiropodia |
932 | Achondrogenesis |
935 | Short-limb skeletal dysplasia with severe combined immunodeficiency |
939 | 3-hydroxyisobutyric aciduria |
941 | D-glyceric aciduria |
943 | Malonic aciduria |
945 | Acalvaria |
949 | Acrocraniofacial dysostosis |
950 | Acrodysostosis |
952 | Acrofacial dysostosis, Weyers type |
955 | Hajdu-Cheney syndrome |
957 | Acropectorovertebral dysplasia |
958 | Acro-renal-mandibular syndrome |
959 | Acro-renal-ocular syndrome |
963 | Acromegaly |
968 | Acromesomelic dysplasia, Hunter-Thompson type |
969 | Acromicric dysplasia |
970 | Hereditary sensory and autonomic neuropathy type 2 |
971 | Acrorenal syndrome |
972 | Hereditary continuous muscle fiber activity |
973 | Isolated absence/hypoplasia of fingers excluding thumb, unilateral |
974 | Adams-Oliver syndrome |
976 | Adenine phosphoribosyltransferase deficiency |
977 | Adrenomyodystrophy |
978 | ADULT syndrome |
980 | Absence of the pulmonary artery |
981 | Internal carotid absence |
983 | Testicular regression syndrome |
984 | Pulmonary agenesis |
988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome |
989 | Hypoglossia-hypodactyly syndrome |
990 | Agnathia-holoprosencephaly-situs inversus syndrome |
991 | PAGOD syndrome |
994 | Fetal akinesia deformation sequence |
998 | Albinism-deafness syndrome |
999 | Ermine phenotype |
1000 | Ocular albinism with late-onset sensorineural deafness |
1001 | 2q37 microdeletion syndrome |
1003 | Scalp defects-postaxial polydactyly syndrome |
1005 | Alopecia-contractures-dwarfism-intellectual disability syndrome |
1006 | Alopecia antibody deficiency |
1008 | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia |
1014 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome |
1018 | X-linked Alport syndrome-diffuse leiomyomatosis |
1020 | Early-onset autosomal dominant Alzheimer disease |
1021 | Amaurosis-hypertrichosis syndrome |
1023 | Congenital generalized hypertrichosis, Ambras type |
1027 | Autosomal recessive amelia |
1028 | Amelo-onycho-hypohidrotic syndrome |
1031 | Enamel-renal syndrome |
1035 | Beta-mercaptolactate cysteine disulfiduria |
1040 | Metaphyseal anadysplasia |
1041 | Hydrops fetalis |
1046 | Lethal hemolytic anemia-genital anomalies syndrome |
1048 | Isolated anencephaly/exencephaly |
1051 | Ramos-Arroyo syndrome |
1052 | Mosaic variegated aneuploidy syndrome |
1053 | Vein of Galen aneurysmal malformation |
1054 | Aneurysm of sinus of Valsalva |
1055 | Congenital left ventricular aneurysm |
1059 | Blue rubber bleb nevus |
1062 | Hereditary neurocutaneous malformation |
1063 | Tufted angioma |
1064 | Aniridia-renal agenesis-psychomotor retardation syndrome |
1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome |
1067 | Aniridia-ptosis-intellectual disability-familial obesity syndrome |
1068 | Aniridia-intellectual disability syndrome |
1069 | Aniridia-absent patella syndrome |
1070 | Anisakiasis |
1071 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome |
1074 | Ankyloblepharon filiforme adnatum-imperforate anus syndrome |
1077 | Dental ankylosis |
1078 | Thumb stiffness-brachydactyly-intellectual disability syndrome |
1083 | Microlissencephaly |
1084 | Isolated lissencephaly type 1 without known genetic defects |
1094 | Anonychia-microcephaly syndrome |
1101 | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
1104 | Anophthalmia plus syndrome |
1106 | Microphthalmia with limb anomalies |
1110 | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome |
1112 | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
1113 | Aphalangy-syndactyly-microcephaly syndrome |
1114 | Aplasia cutis congenita |
1116 | Aplasia cutis congenita-intestinal lymphangiectasia syndrome |
1117 | Aplasia cutis-myopia syndrome |
1118 | Fibular aplasia-ectrodactyly syndrome |
1120 | Lung agenesis-heart defect-thumb anomalies syndrome |
1121 | Radial deficiency-tibial hypoplasia syndrome |
1122 | Ulnar hypoplasia-split foot syndrome |
1123 | Caudal appendage-deafness syndrome |
1125 | Ocular motor apraxia, Cogan type |
1126 | Aprosencephaly cerebellar dysgenesis |
1129 | Arachnodactyly-abnormal ossification-intellectual disability syndrome |
1130 | Arachnodactyly-intellectual disability-dysmorphism syndrome |
1131 | X-linked mandibulofacial dysostosis |
1133 | AREDYLD syndrome |
1134 | Isolated arrhinia |
1135 | Arrhinia-choanal atresia-microphthalmia syndrome |
1143 | Neurogenic arthrogryposis multiplex congenita |
1144 | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome |
1145 | Infantile-onset X-linked spinal muscular atrophy |
1146 | Distal arthrogryposis type 1 |
1147 | Sheldon-Hall syndrome |
1149 | Kuskokwim syndrome |
1150 | Arthrogryposis multiplex congenita-whistling face syndrome |
1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome |
1159 | Progressive pseudorheumatoid arthropathy of childhood |
1160 | Chylous ascites |
1163 | Aspergillosis |
1164 | Allergic bronchopulmonary aspergillosis |
1166 | Congenital unilateral hypoplasia of depressor anguli oris |
1168 | Ataxia-oculomotor apraxia type 1 |
1170 | Autosomal recessive cerebelloparenchymal disorder type 3 |
1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
1173 | Cerebellar ataxia-hypogonadism syndrome |
1174 | Cerebellar ataxia-ectodermal dysplasia syndrome |
1175 | X-linked progressive cerebellar ataxia |
1177 | Early-onset cerebellar ataxia with retained tendon reflexes |
1178 | Ataxia-tapetoretinal degeneration syndrome |
1179 | Benign paroxysmal tonic upgaze of childhood with ataxia |
1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome |
1182 | Spastic ataxia with congenital miosis |
1183 | Opsoclonus-myoclonus syndrome |
1184 | Ataxia-photosensitivity-short stature syndrome |
1185 | Spinocerebellar ataxia-dysmorphism syndrome |
1186 | Infantile-onset spinocerebellar ataxia |
1187 | Lethal ataxia with deafness and optic atrophy |
1188 | Ataxia-deafness-intellectual disability syndrome |
1190 | Atelosteogenesis type I |
1192 | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
1193 | Atkin-Flaitz syndrome |
1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy |
1195 | Congenital atransferrinemia |
1198 | Colonic atresia |
1199 | Esophageal atresia |
1200 | Burn-McKeown syndrome |
1201 | Small bowel atresia |
1202 | Larynx atresia |
1203 | Duodenal atresia |
1205 | Mitral atresia |
1207 | Pulmonary atresia with ventricular septal defect |
1208 | Pulmonary atresia-intact ventricular septum syndrome |
1209 | Tricuspid atresia |
1214 | Progressive hemifacial atrophy |
1215 | Autosomal dominant optic atrophy plus syndrome |
1216 | Autosomal dominant congenital benign spinal muscular atrophy |
1217 | Spinal atrophy-ophthalmoplegia-pyramidal syndrome |
1221 | Cheilitis glandularis |
1223 | Balantidiasis |
1225 | Baller-Gerold syndrome |
1226 | Bamforth-Lazarus syndrome |
1227 | Bangstad syndrome |
1228 | Banki syndrome |
1229 | Congenital intrauterine infection-like syndrome |
1231 | Barber-Say syndrome |
1234 | Bartsocas-Papas syndrome |
1236 | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome |
1237 | Beemer-Ertbruggen syndrome |
1239 | Behr syndrome |
1241 | Bencze syndrome |
1243 | Best vitelliform macular dystrophy |
1246 | Brachydactyly-nystagmus-cerebellar ataxia syndrome |
1247 | Schistosomiasis |
1248 | Maxillonasal dysplasia |
1252 | Blepharonasofacial malformation syndrome |
1253 | Ascher syndrome |
1259 | Blepharoptosis-myopia-ectopia lentis syndrome |
1261 | Bonnemann-Meinecke-Reich syndrome |
1262 | Böök syndrome |
1263 | Boomerang dysplasia |
1264 | Tricho-retino-dento-digital syndrome |
1267 | Botulism |
1270 | Bowen-Conradi syndrome |
1272 | Aymé-Gripp syndrome |
1275 | Brachydactyly-elbow wrist dysplasia syndrome |
1276 | Brachydactyly-arterial hypertension syndrome |
1277 | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome |
1278 | Brachydactyly-preaxial hallux varus syndrome |
1292 | Brachymorphism-onychodysplasia-dysphalangism syndrome |
1295 | Brachytelephalangy-dysmorphism-Kallmann syndrome |
1296 | Lambert syndrome |
1297 | Branchio-oculo-facial syndrome |
1299 | Branchioskeletogenital syndrome |
1300 | Autosomal dominant popliteal pterygium syndrome |
1302 | Cryptogenic organizing pneumonia |
1304 | Brucellosis |
1305 | Feingold syndrome |
1307 | Distal limb deficiencies-micrognathia syndrome |
1308 | C syndrome |
1309 | Medullary sponge kidney |
1310 | Caffey disease |
1313 | Infantile choroidocerebral calcification syndrome |
1314 | Symmetrical thalamic calcifications |
1318 | Campomelia, Cumming type |
1319 | Camptobrachydactyly |
1320 | Idiopathic camptocormia |
1321 | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome |
1323 | Camptodactyly-joint contractures-facial skeletal defects syndrome |
1325 | Camptodactyly-taurinuria syndrome |
1326 | Camptodactyly syndrome, Guadalajara type 2 |
1327 | Camptodactyly syndrome, Guadalajara type 1 |
1328 | Camurati-Engelmann disease |
1329 | Complete atrioventricular septal defect |
1330 | Partial atrioventricular septal defect |
1331 | Familial prostate cancer |
1332 | Medullary thyroid carcinoma |
1333 | Familial pancreatic carcinoma |
1334 | Chronic mucocutaneous candidiasis |
1335 | Pentalogy of Cantrell |
1336 | Hyperkeratosis-hyperpigmentation syndrome |
1338 | Heart defect-tongue hamartoma-polysyndactyly syndrome |
1340 | Cardiofaciocutaneous syndrome |
1342 | Heart-hand syndrome type 3 |
1344 | Atrial standstill |
1345 | Cardiomyopathy-cataract-hip spine disease syndrome |
1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss |
1350 | Heart-hand syndrome type 2 |
1352 | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
1354 | Heart defects-limb shortening syndrome |
1355 | Congenital heart defect-round face-developmental delay syndrome |
1358 | Carey-Fineman-Ziter syndrome |
1359 | Carney complex |
1361 | Carnosinase deficiency |
1366 | Autosomal recessive palmoplantar keratoderma and congenital alopecia |
1368 | Cataract-ataxia-deafness syndrome |
1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
1373 | Cataract-aberrant oral frenula-growth delay syndrome |
1375 | Cataract-hypertrichosis-intellectual disability syndrome |
1377 | Cataract-microcornea syndrome |
1380 | Cataract-nephropathy-encephalopathy syndrome |
1381 | Cataract-intellectual disability-anal atresia-urinary defects syndrome |
1383 | Cataract-deafness-hypogonadism syndrome |
1387 | Cataract-intellectual disability-hypogonadism syndrome |
1388 | Catel-Manzke syndrome |
1389 | Cortical blindness-intellectual disability-polydactyly syndrome |
1390 | Night blindness-skeletal anomalies-dysmorphism syndrome |
1393 | Cerebrocostomandibular syndrome |
1394 | Cerebrofaciothoracic dysplasia |
1397 | Hydrocephaly-cerebellar agenesis syndrome |
1398 | Isolated cerebellar agenesis |
1399 | Richards-Rundle syndrome |
1401 | CHAND syndrome |
1406 | Charlie M syndrome |
1410 | Uncombable hair syndrome |
1412 | Tarsal-carpal coalition syndrome |
1414 | Cholestasis-lymphedema syndrome |
1415 | Hardikar syndrome |
1416 | Familial calcium pyrophosphate deposition |
1422 | Chondrodysplasia-difference of sex development syndrome |
1423 | Lethal recessive chondrodysplasia |
1425 | Desbuquois syndrome |
1426 | Greenberg dysplasia |
1427 | Otospondylomegaepiphyseal dysplasia |
1429 | Benign hereditary chorea |
1433 | Choroidal atrophy-alopecia syndrome |
1435 | Xq21 microdeletion syndrome |
1436 | X-linked skeletal dysplasia-intellectual disability syndrome |
1437 | Ring chromosome 1 syndrome |
1438 | Ring chromosome 10 syndrome |
1439 | Ring chromosome 12 syndrome |
1440 | Ring chromosome 14 syndrome |
1441 | Ring chromosome 17 syndrome |
1442 | Ring chromosome 18 syndrome |
1443 | Ring chromosome 19 syndrome |
1444 | Ring chromosome 20 syndrome |
1445 | Ring chromosome 21 syndrome |
1446 | Ring chromosome 22 syndrome |
1447 | Ring chromosome 4 syndrome |
1448 | Ring chromosome 6 syndrome |
1449 | Ring chromosome 7 syndrome |
1450 | Ring chromosome 8 syndrome |
1451 | CINCA syndrome |
1452 | Cleidocranial dysplasia |
1453 | Cleidorhizomelic syndrome |
1454 | Joubert syndrome with hepatic defect |
1456 | Middle aortic syndrome |
1457 | Aorta coarctation |
1458 | CODAS syndrome |
1459 | Celiac disease-epilepsy-cerebral calcification syndrome |
1460 | Isolated complex III deficiency |
1461 | Criss-cross heart |
1464 | Univentricular heart |
1465 | Coffin-Siris syndrome |
1466 | COFS syndrome |
1467 | Cogan syndrome |
1471 | Coloboma of macula-brachydactyly type B syndrome |
1473 | Uveal coloboma-cleft lip and palate-intellectual disability |
1475 | Renal coloboma syndrome |
1478 | Interatrial communication |
1479 | Atrial septal defect-atrioventricular conduction defects syndrome |
1482 | Gonococcal conjunctivitis |
1484 | Contractures-ectodermal dysplasia-cleft lip/palate syndrome |
1485 | Arthrogryposis-hyperkeratosis syndrome, lethal form |
1486 | Lethal congenital contracture syndrome type 1 |
1487 | Cooks syndrome |
1488 | Cooper-Jabs syndrome |
1489 | Whooping cough |
1490 | Corneal dystrophy-perceptive deafness syndrome |
1493 | Vici syndrome |
1495 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome |
1496 | Corpus callosum agenesis-neuronopathy syndrome |
1497 | X-linked complicated corpus callosum dysgenesis |
1501 | Adrenocortical carcinoma |
1506 | Thin ribs-tubular bones-dysmorphism syndrome |
1507 | Autosomal recessive Robinow syndrome |
1508 | Coxoauricular syndrome |
1509 | Coxopodopatellar syndrome |
1512 | Crane-Heise syndrome |
1513 | Craniodiaphyseal dysplasia |
1514 | Craniodigital-intellectual disability syndrome |
1515 | Cranioectodermal dysplasia |
1516 | Non-syndromic bilambdoid and sagittal craniosynostosis |
1517 | Cantú syndrome |
1519 | SPECC1L-related hypertelorism syndrome |
1520 | Craniofrontonasal dysplasia |
1521 | Craniofrontonasal dysplasia-Poland anomaly syndrome |
1522 | Craniometaphyseal dysplasia |
1524 | Craniomicromelic syndrome |
1525 | Cranio-osteoarthropathy |
1527 | Craniosynostosis, Philadelphia type |
1528 | Craniotelencephalic dysplasia |
1529 | Craniofacial-deafness-hand syndrome |
1532 | Gómez-López-Hernández syndrome |
1538 | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome |
1540 | Jackson-Weiss syndrome |
1541 | Craniosynostosis, Boston type |
1544 | Benign focal seizures of adolescence |
1545 | Crisponi syndrome |
1546 | Cryptococcosis |
1547 | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome |
1548 | Cryptorchidism-arachnodactyly-intellectual disability syndrome |
1551 | Familial benign copper deficiency |
1552 | Currarino syndrome |
1553 | Curry-Jones syndrome |
1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
1556 | Cutis marmorata telangiectatica congenita |
1560 | Cysticercosis |
1561 | Fatal infantile cytochrome C oxidase deficiency |
1563 | Dahlberg-Borer-Newcomer syndrome |
1566 | Dandy-Walker malformation-postaxial polydactyly syndrome |
1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome |
1570 | Symbrachydactyly of hands and feet |
1571 | Knobloch syndrome |
1572 | Common variable immunodeficiency |
1573 | Hypotrichosis with juvenile macular degeneration |
1574 | Retinal degeneration-nanophthalmos-glaucoma syndrome |
1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency |
1580 | Distal deletion 10p |
1581 | Non-distal deletion 10q |
1587 | Monosomy 13q14 |
1590 | Distal deletion 13q |
1596 | Distal deletion 15q |
1597 | Distal deletion 17q |
1598 | Monosomy 18p |
1600 | Monosomy 18q |
1606 | 1p36 deletion syndrome |
1617 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion |
1620 | Distal deletion 3p |
1621 | 3q13 microdeletion syndrome |
1627 | Deletion 5q35 |
1636 | Distal monosomy 7q36 |
1642 | Distal deletion 9p |
1643 | Xp22.3 microdeletion syndrome |
1646 | Chromosome Y microdeletion |
1647 | Oculocerebrocutaneous syndrome |
1652 | Dent disease |
1653 | Dentin dysplasia |
1655 | Müllerian derivatives-lymphangiectasia-polydactyly syndrome |
1656 | Dermatitis herpetiformis |
1657 | Dermatoosteolysis, Kirghizian type |
1658 | Absence of fingerprints-congenital milia syndrome |
1659 | Dermatoleukodystrophy |
1660 | Dermoodontodysplasia |
1661 | X-linked corneal dermoid |
1662 | Restrictive dermopathy |
1665 | Sporadic fetal brain disruption sequence |
1666 | Dextrocardia |
1667 | Wolcott-Rallison syndrome |
1670 | Chronic diarrhea with villous atrophy |
1671 | Split cord malformation type I |
1672 | Diencephalic syndrome |
1675 | Dihydropyrimidine dehydrogenase deficiency |
1676 | Idiopathic pulmonary artery dilatation |
1677 | Familial idiopathic dilatation of the right atrium |
1679 | Diphtheria |
1681 | Diprosopus |
1682 | Arterial dissection-lentiginosis syndrome |
1686 | Cardiac diverticulum |
1692 | Mosaic trisomy 1 |
1695 | Non-distal duplication 10q |
1698 | Mosaic trisomy 12 |
1699 | Trisomy 12p |
1702 | Non-distal duplication 13q |
1703 | Mosaic trisomy 14 |
1705 | Distal duplication 14q |
1706 | Mosaic trisomy 15 |
1707 | Distal duplication 15q |
1708 | Mosaic trisomy 16 |
1711 | Mosaic trisomy 17 |
1713 | 17p11.2 microduplication syndrome |
1715 | Trisomy 18p |
1716 | Distal duplication 18q |
1717 | Distal duplication 19q |
1723 | Mosaic trisomy 2 |
1724 | Mosaic trisomy 20 |
1727 | 22q11.2 duplication syndrome |
1738 | Trisomy 4p |
1742 | Trisomy 5p |
1745 | Distal duplication 6p |
1747 | Mosaic trisomy 7 |
1752 | Trisomy 8q |
1756 | Caudal duplication |
1757 | Fibular dimelia-diplopodia syndrome |
1759 | Thoraco-abdominal enteric duplication |
1762 | Proximal Xq28 duplication syndrome |
1764 | Familial dysautonomia |
1766 | Dysequilibrium syndrome |
1768 | Familial caudal dysgenesis |
1770 | XY type gonadal dysgenesis-associated anomalies syndrome |
1772 | 45,X/46,XY mixed gonadal dysgenesis |
1775 | Dyskeratosis congenita |
1777 | Temtamy syndrome |
1778 | Facial dysmorphism-shawl scrotum-joint laxity syndrome |
1779 | Dysmorphism-cleft palate-loose skin syndrome |
1780 | Thakker-Donnai syndrome |
1782 | Dysosteosclerosis |
1784 | Acrofrontofacionasal dysostosis |
1786 | Acrofacial dysostosis, Catania type |
1787 | Acrofacial dysostosis, Palagonia type |
1788 | Acrofacial dysostosis, Rodríguez type |
1790 | Hypomandibular faciocranial dysostosis |
1791 | Frontofacionasal dysplasia |
1794 | Oculomaxillofacial dysostosis |
1797 | Autosomal dominant spondylocostal dysostosis |
1798 | Craniofacial dysostosis-diaphyseal hyperplasia syndrome |
1799 | Familial developmental dysphasia |
1801 | Kyphomelic dysplasia |
1802 | Ghosal hematodiaphyseal dysplasia |
1803 | Thoracomelic dysplasia |
1806 | Ectodermal dysplasia-blindness syndrome |
1807 | Focal facial dermal dysplasia type III |
1808 | Hidrotic ectodermal dysplasia, Christianson-Fourie type |
1809 | Hidrotic ectodermal dysplasia, Halal type |
1810 | Autosomal dominant hypohidrotic ectodermal dysplasia |
1811 | Odontomicronychial dysplasia |
1812 | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome |
1816 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome |
1818 | Ectodermal dysplasia, trichoodontoonychial type |
1822 | Dysplasia epiphysealis hemimelica |
1824 | Lowry-Wood syndrome |
1825 | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
1826 | Frontometaphyseal dysplasia |
1827 | Acromelic frontonasal dysplasia |
1830 | Schimke immuno-osseous dysplasia |
1832 | Osteosclerotic bone dysplasia |
1834 | Axial mesodermal dysplasia spectrum |
1836 | Mesomelic dysplasia, Kantaputra type |
1837 | Metaphyseal chondrodysplasia, Rosenberg type |
1839 | Hereditary mucoepithelial dysplasia |
1842 | Bone dysplasia, lethal Holmgren type |
1848 | Renal agenesis, bilateral |
1851 | Multicystic dysplastic kidney |
1852 | X-linked retinal dysplasia |
1855 | Spondyloenchondrodysplasia |
1856 | Spondyloperipheral dysplasia-short ulna syndrome |
1858 | Skeletal dysplasia-epilepsy-short stature syndrome |
1860 | Thanatophoric dysplasia type 1 |
1861 | Thoracic dysplasia-hydrocephalus syndrome |
1865 | Dyssegmental dysplasia, Silverman-Handmaker type |
1867 | Hereditary bullous dystrophy, macular type |
1871 | Progressive cone dystrophy |
1872 | Cone rod dystrophy |
1873 | Jalili syndrome |
1875 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
1876 | Oculogastrointestinal muscular dystrophy |
1878 | TRIM32-related limb-girdle muscular dystrophy R8 |
1879 | Melorheostosis with osteopoikilosis |
1880 | Ebstein malformation of the tricuspid valve |
1882 | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome |
1883 | Ectodermal dysplasia-sensorineural deafness syndrome |
1884 | Ectopia lentis-chorioretinal dystrophy-myopia syndrome |
1885 | Isolated ectopia lentis |
1891 | Intellectual disability-spasticity-ectrodactyly syndrome |
1892 | Ectrodactyly-polydactyly syndrome |
1895 | Edinburgh malformation syndrome |
1896 | EEC syndrome |
1897 | EEM syndrome |
1899 | Arthrochalasia Ehlers-Danlos syndrome |
1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency |
1901 | Dermatosparaxis Ehlers-Danlos syndrome |
1902 | Ehrlichiosis |
1906 | Fetal valproate spectrum disorder |
1908 | Aminopterin/methotrexate embryofetopathy |
1909 | Indomethacin embryofetopathy |
1910 | Fetal iodine syndrome |
1911 | Cocaine embryofetopathy |
1912 | Fetal hydantoin syndrome |
1913 | Fetal trimethadione syndrome |
1914 | Vitamin K antagonist embryofetopathy |
1915 | Fetal alcohol syndrome |
1916 | Diethylstilbestrol syndrome |
1917 | Fetal methylmercury syndrome |
1918 | Fetal minoxidil syndrome |
1919 | Phenobarbital embryopathy |
1920 | Toluene embryopathy |
1923 | Methimazole embryofetopathy |
1926 | Diabetic embryopathy |
1927 | Emery-Nelson syndrome |
1928 | Congenital lobar emphysema |
1929 | Rasmussen subacute encephalitis |
1930 | Herpes simplex virus encephalitis |
1931 | Frontal encephalocele |
1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
1934 | Early infantile epileptic encephalopathy |
1935 | Early myoclonic encephalopathy |
1937 | Eng-Strom syndrome |
1941 | Juvenile absence epilepsy |
1942 | Myoclonic-astatic epilepsy |
1943 | Early-onset progressive encephalopathy with migrant continuous myoclonus |
1945 | Rolandic epilepsy |
1946 | Amelocerebrohypohidrotic syndrome |
1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type |
1948 | Epilepsy-microcephaly-skeletal dysplasia syndrome |
1949 | Benign familial neonatal epilepsy |
1951 | Epilepsy-telangiectasia syndrome |
1952 | Epiphyseal stippling-osteoclastic hyperplasia syndrome |
1954 | Congenital lethal erythroderma |
1955 | Spinocerebellar ataxia type 34 |
1957 | Esthesioneuroblastoma |
1959 | Evans syndrome |
1962 | Exostoses-anetodermia-brachydactyly type E syndrome |
1964 | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome |
1968 | Flat face-microstomia-ear anomaly syndrome |
1969 | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome |
1970 | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome |
1972 | Lethal faciocardiomelic dysplasia |
1973 | Faciocardiorenal syndrome |
1974 | Autosomal recessive faciodigitogenital syndrome |
1979 | Lipodystrophy due to peptidic growth factors deficiency |
1980 | Bilateral striopallidodentate calcinosis |
1986 | Gollop-Wolfgang complex |
1987 | Isolated femoral agenesis/hypoplasia |
1988 | Femoral-facial syndrome |
1993 | Pai syndrome |
1995 | Cleft lip-retinopathy syndrome |
1997 | Blepharo-cheilo-odontic syndrome |
2001 | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome |
2003 | Cleft lip/palate-deafness-sacral lipoma syndrome |
2004 | Laryngotracheoesophageal cleft |
2006 | Median cleft lip/mandible |
2007 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome |
2008 | Acrocardiofacial syndrome |
2010 | Cleft palate-stapes fixation-oligodontia syndrome |
2013 | Cleft palate-large ears-small head syndrome |
2015 | Cleft palate-short stature-vertebral anomalies syndrome |
2016 | Cleft palate-lateral synechia syndrome |
2017 | Sternal cleft |
2019 | Femur-fibula-ulna complex |
2020 | Congenital fiber-type disproportion myopathy |
2021 | Fibrochondrogenesis |
2022 | Endocardial fibroelastosis |
2023 | Undifferentiated pleomorphic sarcoma |
2024 | Hereditary gingival fibromatosis |
2025 | Gingival fibromatosis-facial dysmorphism syndrome |
2026 | Gingival fibromatosis-hypertrichosis syndrome |
2027 | Gingival fibromatosis-progressive deafness syndrome |
2028 | Juvenile hyaline fibromatosis |
2030 | Fibrosarcoma |
2031 | Hepatic fibrosis-renal cysts-intellectual disability syndrome |
2032 | Idiopathic pulmonary fibrosis |
2035 | Lymphatic filariasis |
2036 | Scalp-ear-nipple syndrome |
2037 | Congenital aortopulmonary window |
2038 | Pulmonary arteriovenous malformation |
2039 | Congenital systemic arteriovenous fistula |
2040 | Congenital respiratory-biliary fistula |
2041 | Coronary arterial fistula |
2044 | Floating-Harbor syndrome |
2045 | FLOTCH syndrome |
2047 | Flynn-Aird syndrome |
2048 | Foix-Chavany-Marie syndrome |
2050 | Cole-Carpenter syndrome |
2052 | Fraser syndrome |
2053 | Freeman-Sheldon syndrome |
2056 | Essential fructosuria |
2057 | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
2058 | Fryns-Smeets-Thiry syndrome |
2059 | Fryns syndrome |
2062 | Progressive non-infectious anterior vertebral fusion |
2063 | Splenogonadal fusion-limb defects-micrognathia syndrome |
2064 | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
2065 | Galloway-Mowat syndrome |
2066 | Gamma-aminobutyric acid transaminase deficiency |
2067 | GAPO syndrome |
2069 | Gastrocutaneous syndrome |
2070 | Eosinophilic gastroenteritis |
2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
2073 | Narcolepsy type 1 |
2074 | Gemignani syndrome |
2075 | Genitopalatocardiac syndrome |
2077 | German syndrome |
2078 | Geroderma osteodysplastica |
2083 | Prominent glabella-microcephaly-hypogenitalism syndrome |
2084 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome |
2085 | Glaucoma-sleep apnea syndrome |
2086 | Optic pathway glioma |
2088 | Fanconi-Bickel syndrome |
2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency |
2090 | GMS syndrome |
2091 | Multinodular goiter-cystic kidney-polydactyly syndrome |
2092 | Focal dermal hypoplasia |
2095 | Gorlin-Chaudhry-Moss syndrome |
2097 | Grant syndrome |
2098 | Acromesomelic dysplasia, Grebe type |
2101 | Grubben-de Cock-Borghgraef syndrome |
2102 | GTP cyclohydrolase I deficiency |
2104 | Dysmorphism-pectus carinatum-joint laxity syndrome |
2107 | Hall-Riggs syndrome |
2108 | Hallermann-Streiff syndrome |
2109 | Hallermann-Streiff-like syndrome |
2110 | Hallux varus-preaxial polysyndactyly syndrome |
2111 | Cystic hamartoma of lung and kidney |
2114 | Hip dysplasia, Beukes type |
2115 | Harrod syndrome |
2116 | Hartnup disease |
2117 | Hartsfield syndrome |
2118 | Hawkinsinuria |
2119 | HEC syndrome |
2122 | Kaposiform hemangioendothelioma |
2123 | Multifocal infantile hemangioma with extracutenous involvement |
2126 | Solitary fibrous tumor |
2128 | Isolated hemihyperplasia |
2131 | Alternating hemiplegia of childhood |
2132 | Hemoglobin C disease |
2133 | Hemoglobin E disease |
2134 | Atypical hemolytic uremic syndrome |
2135 | Hennekam-Beemer syndrome |
2136 | Hennekam syndrome |
2137 | Autoimmune hepatitis |
2138 | 46,XX ovotesticular difference of sex development |
2139 | Hernández-Aguirre Negrete syndrome |
2140 | Congenital diaphragmatic hernia |
2141 | Diaphragmatic defect-limb deficiency-skull defect syndrome |
2143 | Donnai-Barrow syndrome |
2145 | Craniosynostosis, Herrmann-Opitz type |
2148 | Lissencephaly type 1 due to doublecortin gene mutation |
2149 | Nodular neuronal heterotopia |
2150 | Hirschsprung disease-type D brachydactyly syndrome |
2151 | Hirschsprung disease-ganglioneuroblastoma syndrome |
2152 | Mowat-Wilson syndrome |
2153 | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
2155 | Hirschsprung disease-deafness-polydactyly syndrome |
2157 | Histidinemia |
2158 | Histidinuria-renal tubular defect syndrome |
2162 | Holoprosencephaly |
2163 | Holoprosencephaly-craniosynostosis syndrome |
2165 | Holoprosencephaly-caudal dysgenesis syndrome |
2166 | Holoprosencephaly-postaxial polydactyly syndrome |
2167 | Holzgreve syndrome |
2169 | Methylcobalamin deficiency type cblE |
2170 | Methylcobalamin deficiency type cblG |
2172 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome |
2176 | Infantile systemic hyalinosis |
2177 | Hydranencephaly |
2180 | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome |
2181 | Hydrocephaly-tall stature-joint laxity syndrome |
2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius |
2183 | Hydrocephalus-obesity-hypogonadism syndrome |
2184 | Hydrocephaly-low insertion umbilicus syndrome |
2185 | Congenital hydrocephalus |
2186 | Hydrocephalus-blue sclerae-nephropathy syndrome |
2189 | Hydrolethalus |
2195 | Dicarboxylic aminoaciduria |
2196 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
2197 | Idiopathic hypercalciuria |
2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome |
2199 | Epidermolytic palmoplantar keratoderma |
2200 | Focal palmoplantar and gingival keratoderma |
2201 | Palmoplantar keratoderma-spastic paralysis syndrome |
2202 | Palmoplantar keratoderma-deafness syndrome |
2203 | Hyperlysinemia |
2204 | Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type |
2206 | Ankylosing vertebral hyperostosis with tylosis |
2209 | Maternal phenylketonuria |
2211 | Hypertelorism-hypospadias-polysyndactyly syndrome |
2213 | Hypertelorism-microtia-facial clefting syndrome |
2215 | Multiple pterygium-malignant hyperthermia syndrome |
2216 | Maternal hyperthermia-induced birth defects |
2218 | Cervical hypertrichosis-peripheral neuropathy syndrome |
2220 | Hypertrichosis cubiti |
2221 | Acquired hypertrichosis lanuginosa |
2222 | Hypertrichosis lanuginosa congenita |
2224 | Hypertryptophanemia |
2228 | Hypodontia-dysplasia of nails syndrome |
2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
2230 | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome |
2232 | Primary hypergonadotropic hypogonadism-partial alopecia syndrome |
2233 | Hypogonadism-mitral valve prolapse-intellectual disability syndrome |
2234 | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome |
2235 | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
2238 | Familial isolated hypoparathyroidism |
2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland |
2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome |
2246 | Cerebellar hypoplasia-tapetoretinal degeneration syndrome |
2248 | Hypoplastic left heart syndrome |
2249 | Ulna hypoplasia-intellectual disability syndrome |
2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
2251 | Thumb deformity-alopecia-pigmentation anomaly syndrome |
2252 | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
2253 | Foveal hypoplasia-presenile cataract syndrome |
2254 | Pontocerebellar hypoplasia type 1 |
2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
2256 | Fibulo-ulnar hypoplasia-renal anomalies syndrome |
2257 | Primary pulmonary hypoplasia |
2260 | Oligomeganephronia |
2261 | Hypospadias-intellectual disability, Goldblatt type syndrome |
2266 | Hypotrichosis-intellectual disability, Lopes type |
2268 | ICF syndrome |
2269 | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome |
2271 | Congenital ichthyosis-microcephalus-tetraplegia syndrome |
2272 | Ichthyosis-oral and digital anomalies syndrome |
2273 | Ichthyosis follicularis-alopecia-photophobia syndrome |
2274 | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
2278 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
2282 | Dysmorphism-short stature-deafness-difference of sex development syndrome |
2285 | Primary basilar invagination |
2287 | Fused mandibular incisors |
2289 | Neuronal intranuclear inclusion disease |
2290 | Microvillus inclusion disease |
2291 | Congenital velopharyngeal incompetence |
2295 | Familial articular hypermobility syndrome |
2297 | Insulin-resistance syndrome type A |
2298 | Insulin-resistance syndrome type B |
2299 | Aortic arch interruption |
2300 | Multiple intestinal atresia |
2301 | Congenital short bowel syndrome |
2302 | Asbestos intoxication |
2305 | Isotretinoin syndrome |
2306 | Isotretinoin-like syndrome |
2307 | IVIC syndrome |
2308 | Jacobsen syndrome |
2309 | Pachyonychia congenita |
2310 | Absence deformity of leg-cataract syndrome |
2311 | Autosomal recessive spondylocostal dysostosis |
2312 | Transient familial neonatal hyperbilirubinemia |
2314 | Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency |
2315 | Johanson-Blizzard syndrome |
2316 | Johnson neuroectodermal syndrome |
2318 | Joubert syndrome with oculorenal defect |
2319 | Juberg-Hayward syndrome |
2321 | Jung syndrome |
2322 | Kabuki syndrome |
2323 | Sanjad-Sakati syndrome |
2324 | Osteopenia-intellectual disability-sparse hair syndrome |
2325 | Epidermolysis bullosa simplex with anodontia/hypodontia |
2326 | Kallmann syndrome-heart disease syndrome |
2328 | Kapur-Toriello syndrome |
2329 | Karsch-Neugebauer syndrome |
2330 | Kasabach-Merritt phenomenon |
2331 | Kawasaki disease |
2332 | KBG syndrome |
2333 | Kenny-Caffey syndrome |
2334 | Autosomal dominant keratitis |
2337 | Diffuse palmoplantar keratoderma, Bothnian type |
2339 | Keratosis follicularis-dwarfism-cerebral atrophy syndrome |
2340 | Keratosis follicularis spinulosa decalvans |
2342 | Haim-Munk syndrome |
2345 | Isolated Klippel-Feil syndrome |
2347 | Lethal Kniest-like dysplasia |
2348 | Familial partial lipodystrophy, Dunnigan type |
2349 | Muscular pseudohypertrophy-hypothyroidism syndrome |
2351 | Kousseff syndrome |
2353 | Schilbach-Rott syndrome |
2356 | Arachnoid cyst |
2357 | Bronchogenic cyst |
2363 | Lacrimoauriculodentodigital syndrome |
2364 | Glycogen storage disease due to lactate dehydrogenase deficiency |
2368 | Gastroschisis |
2369 | Limb body wall complex |
2370 | Larsen-like osseous dysplasia-short stature syndrome |
2371 | Lethal Larsen-like syndrome |
2372 | Laryngocele |
2373 | Congenital laryngomalacia |
2374 | Isolated congenital laryngeal web |
2375 | Laryngeal abductor paralysis-intellectual disability syndrome |
2377 | Laurence-Moon syndrome |
2378 | Laurin-Sandrow syndrome |
2379 | Early-onset parkinsonism-intellectual disability syndrome |
2380 | Legg-Calvé-Perthes disease |
2382 | Lennox-Gastaut syndrome |
2386 | Leukoencephalopathy-palmoplantar keratoderma syndrome |
2387 | Leukonychia totalis |
2388 | Choreoacanthocytosis |
2390 | Lichtenstein syndrome |
2391 | Congenitally short costocoracoid ligament |
2394 | Pyruvate dehydrogenase E3 deficiency |
2396 | Encephalocraniocutaneous lipomatosis |
2398 | Multiple symmetric lipomatosis |
2399 | Nasopalpebral lipoma-coloboma syndrome |
2400 | Peripheral motor neuropathy-dysautonomia syndrome |
2404 | Loiasis |
2405 | Thickened earlobes-conductive deafness syndrome |
2406 | Locked-in syndrome |
2407 | Laryngo-onycho-cutaneous syndrome |
2408 | Lowe-Kohn-Cohen syndrome |
2409 | Lowry-MacLean syndrome |
2410 | Hypergonadotropic hypogonadism-cataract syndrome |
2412 | Dislocation of the hip-dysmorphism syndrome |
2414 | Congenital pulmonary lymphangiectasia |
2420 | Primary pulmonary lymphoma |
2427 | Macrocephaly-short stature-paraplegia syndrome |
2429 | Macrocephaly-spastic paraplegia-dysmorphism syndrome |
2430 | Congenital macroglossia |
2432 | Macrosomia-microphthalmia-cleft palate syndrome |
2435 | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome |
2437 | Czeizel-Losonci syndrome |
2438 | Hand-foot-genital syndrome |
2439 | Patterson-Stevenson-Fontaine syndrome |
2440 | Isolated split hand-split foot malformation |
2444 | Congenital pulmonary airway malformation |
2451 | Mucocutaneous venous malformations |
2456 | Familial supernumerary nipples |
2457 | Mandibuloacral dysplasia |
2459 | Mansonelliasis |
2460 | Van den Ende-Gupta syndrome |
2461 | Marden-Walker syndrome |
2462 | Shprintzen-Goldberg syndrome |
2463 | Marfanoid habitus-autosomal recessive intellectual disability syndrome |
2464 | Marfanoid syndrome, De Silva type |
2466 | MASA syndrome |
2470 | Matthew-Wood syndrome |
2471 | McDonough syndrome |
2473 | McKusick-Kaufman syndrome |
2475 | White forelock with malformations |
2476 | Dysraphism-cleft lip/palate-limb reduction defects syndrome |
2477 | Megalencephaly |
2478 | Megalencephalic leukoencephalopathy with subcortical cysts |
2479 | Megalocornea-intellectual disability syndrome |
2481 | Neurocutaneous melanocytosis |
2482 | Melhem-Fahl syndrome |
2483 | Melkersson-Rosenthal syndrome |
2484 | Melnick-Needles syndrome |
2485 | Melorheostosis |
2487 | Lower limb malformation-hypospadias syndrome |
2489 | Upper limb defect-eye and ear abnormalities syndrome |
2491 | Müllerian duct anomalies-limb anomalies syndrome |
2492 | FATCO syndrome |
2494 | Ménétrier disease |
2495 | Meningioma |
2496 | Mesomelia-synostoses syndrome |
2497 | Upper limb mesomelic dysplasia, type Fryns |
2498 | Syndactyly type 8 |
2499 | Metachondromatosis |
2500 | Acrogeria |
2501 | Metaphyseal chondrodysplasia, Spahr type |
2502 | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
2504 | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
2505 | Multiple benign circumferential skin creases on limbs |
2508 | Corpus callosum agenesis-abnormal genitalia syndrome |
2510 | Micro syndrome |
2511 | Microbrachycephaly-ptosis-cleft lip syndrome |
2512 | Autosomal recessive primary microcephaly |
2513 | Microcephaly-albinism-digital anomalies syndrome |
2514 | Autosomal dominant primary microcephaly |
2515 | Microcephaly-cardiomyopathy syndrome |
2516 | Microcephaly-cardiac defect-lung malsegmentation syndrome |
2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome |
2519 | Microcephaly-seizures-intellectual disability-heart disease syndrome |
2521 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome |
2522 | Microcephaly-cervical spine fusion anomalies syndrome |
2523 | Microcephaly-brain defect-spasticity-hypernatremia syndrome |
2524 | Pontocerebellar hypoplasia type 2 |
2526 | Microcephaly-lymphedema-chorioretinopathy syndrome |
2528 | Microcephaly-microcornea syndrome, Seemanova type |
2533 | Microcephaly-deafness-intellectual disability syndrome |
2536 | Microcornea-glaucoma-absent frontal sinuses syndrome |
2538 | Microgastria-limb reduction defect syndrome |
2547 | Microphthalmia-microtia-fetal akinesia syndrome |
2549 | Oculoauriculovertebral spectrum with radial defects |
2551 | Microspherophakia-metaphyseal dysplasia syndrome |
2552 | Microsporidiosis |
2554 | Ear-patella-short stature syndrome |
2556 | Microphthalmia with linear skin defects syndrome |
2557 | Mietens syndrome |
2558 | Mikati-Najjar-Sahli syndrome |
2560 | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome |
2561 | Pyramidal molars-abnormal upper lip syndrome |
2563 | MOMO syndrome |
2564 | Tetramelic monodactyly |
2565 | Mononen-Karnes-Senac syndrome |
2566 | Chronic Epstein-Barr virus infection syndrome |
2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome |
2571 | X-linked immunoneurologic disorder |
2572 | Spastic ataxia-corneal dystrophy syndrome |
2573 | Moyamoya disease |
2574 | Moynahan syndrome |
2575 | Cystic fibrosis-gastritis-megaloblastic anemia syndrome |
2576 | Mulibrey nanism |
2578 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
2579 | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
2582 | Myalgia-eosinophilia syndrome associated with tryptophan |
2583 | Mycetoma |
2584 | Classic mycosis fungoides |
2585 | Ataxia-pancytopenia syndrome |
2587 | Myeloperoxidase deficiency |
2588 | Myhre syndrome |
2589 | Myoclonus-cerebellar ataxia-deafness syndrome |
2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
2591 | Infantile myofibromatosis |
2593 | Tubular aggregate myopathy |
2596 | Myopathy and diabetes mellitus |
2597 | Mitochondrial myopathy-lactic acidosis-deafness syndrome |
2598 | Mitochondrial myopathy and sideroblastic anemia |
2604 | Familial visceral myopathy |
2608 | N syndrome |
2609 | Isolated complex I deficiency |
2611 | Linear verrucous nevus syndrome |
2612 | Linear nevus sebaceus syndrome |
2613 | Nail-patella-like renal disease |
2614 | Nail-patella syndrome |
2616 | 3M syndrome |
2617 | Microcephalic primordial dwarfism, Montreal type |
2619 | Brachydactylous dwarfism, Mseleni type |
2623 | Geleophysic dysplasia |
2631 | Mesomelic dwarfism-cleft palate-camptodactyly syndrome |
2632 | Langer mesomelic dysplasia |
2633 | Mesomelic dysplasia, Nievergelt type |
2634 | Mesomelic dwarfism, Reinhardt-Pfeiffer type |
2635 | Metatropic dysplasia |
2636 | Microcephalic osteodysplastic primordial dwarfism types I and III |
2637 | Microcephalic osteodysplastic primordial dwarfism type II |
2639 | Fibular aplasia-complex brachydactyly syndrome |
2643 | Microcephalic primordial dwarfism, Toriello type |
2645 | Osteoglosphonic dysplasia |
2655 | Thanatophoric dysplasia |
2658 | Lenz-Majewski hyperostotic dwarfism |
2662 | Keipert syndrome |
2663 | Nathalie syndrome |
2665 | Congenital mesoblastic nephroma |
2666 | Adult familial nephronophthisis-spastic quadriparesia syndrome |
2668 | Nephropathy-deafness-hyperparathyroidism syndrome |
2669 | Nephrosis-deafness-urinary tract-digital malformations syndrome |
2670 | Pierson syndrome |
2671 | Neu-Laxova syndrome |
2672 | Neuhauser-Eichner-Opitz syndrome |
2673 | Neurofaciodigitorenal syndrome |
2674 | Cyprus facial-neuromusculoskeletal syndrome |
2678 | Familial isolated café-au-lait macules |
2680 | Hypomyelination neuropathy-arthrogryposis syndrome |
2686 | Cyclic neutropenia |
2688 | Adult idiopathic neutropenia |
2690 | Neutropenia-monocytopenia-deafness syndrome |
2695 | Bifid nose |
2697 | Arthrogryposis-renal dysfunction-cholestasis syndrome |
2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome |
2699 | Median nodule of the upper lip |
2700 | Noma |
2701 | Noonan syndrome-like disorder with loose anagen hair |
2703 | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome |
2704 | Urofacial syndrome |
2707 | Oculocerebrofacial syndrome, Kaufman type |
2709 | Oculodental syndrome, Rutherfurd type |
2710 | Oculodentodigital dysplasia |
2712 | Oculofaciocardiodental syndrome |
2713 | Oculoosteocutaneous syndrome |
2714 | Oculo-palato-cerebral syndrome |
2715 | Severe oculo-renal-cerebellar syndrome |
2717 | Oculotrichoanal syndrome |
2718 | Oculotrichodysplasia |
2719 | Oculocerebral hypopigmentation syndrome, Cross type |
2720 | Oculocerebral hypopigmentation syndrome, Preus type |
2721 | Odonto-onycho-dermal dysplasia |
2722 | Odonto-onycho dysplasia-alopecia syndrome |
2723 | Odontotrichomelic syndrome |
2724 | Odontomatosis-aortae esophagus stenosis syndrome |
2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type |
2730 | Postaxial tetramelic oligodactyly |
2732 | Olivopontocerebellar atrophy-deafness syndrome |
2733 | Omodysplasia |
2736 | Lethal omphalocele-cleft palate syndrome |
2737 | Onchocerciasis |
2741 | Ophthalmomandibulomelic dysplasia |
2743 | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome |
2744 | Horizontal gaze palsy with progressive scoliosis |
2745 | Opitz GBBB syndrome |
2746 | Opsismodysplasia |
2750 | Orofaciodigital syndrome type 1 |
2751 | Orofaciodigital syndrome type 2 |
2753 | Orofaciodigital syndrome type 4 |
2754 | Orofaciodigital syndrome type 6 |
2755 | Orofaciodigital syndrome type 8 |
2759 | Imperforate oropharynx-costovertebral anomalies syndrome |
2760 | OSLAM syndrome |
2762 | Progressive osseous heteroplasia |
2763 | Osteocraniostenosis |
2764 | Osteochondritis dissecans |
2767 | Carpotarsal osteochondromatosis |
2768 | Blount disease |
2769 | Familial osteodysplasia, Anderson type |
2770 | Nasu-Hakola disease |
2771 | Bruck syndrome |
2772 | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
2773 | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy |
2776 | Autosomal recessive distal osteolysis syndrome |
2777 | Osteomesopyknosis |
2779 | Osteopathia striata-pigmentary dermopathy-white forelock syndrome |
2780 | Osteopathia striata-cranial sclerosis syndrome |
2783 | Autosomal dominant osteopetrosis type 1 |
2785 | Osteopetrosis with renal tubular acidosis |
2786 | Osteoporosis-oculocutaneous hypopigmentation syndrome |
2787 | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
2788 | Osteoporosis-pseudoglioma syndrome |
2789 | Lateral meningocele syndrome |
2790 | Endosteal hyperostosis, Worth type |
2791 | Otodental syndrome |
2792 | Otofaciocervical syndrome |
2793 | Otoonychoperoneal syndrome |
2795 | Fowler urethral sphincter dysfunction syndrome |
2796 | Pachydermoperiostosis |
2798 | Pachygyria-intellectual disability-epilepsy syndrome |
2800 | Extramammary Paget disease |
2801 | Juvenile Paget disease |
2802 | X-linked sideroblastic anemia and spinocerebellar ataxia |
2804 | W syndrome |
2805 | Partial pancreatic agenesis |
2806 | Subacute sclerosing leukoencephalitis |
2807 | Papilloma of choroid plexus |
2808 | Laryngeal abductor paralysis |
2809 | Familial recurrent peripheral facial palsy |
2812 | Parana hard skin syndrome |
2815 | Spastic paraparesis-deafness syndrome |
2818 | Spastic paraplegia-glaucoma-intellectual disability syndrome |
2819 | Spastic paraplegia-facial-cutaneous lesions syndrome |
2820 | Spastic paraplegia-nephritis-deafness syndrome |
2821 | Spastic paraplegia-neuropathy-poikiloderma syndrome |
2822 | Autosomal recessive spastic paraplegia type 11 |
2824 | Paraplegia-intellectual disability-hyperkeratosis syndrome |
2825 | PARC syndrome |
2826 | Spastic paraplegia-precocious puberty syndrome |
2828 | Young-onset Parkinson disease |
2831 | Rhizomelic dysplasia, Patterson-Lowry type |
2832 | Short tarsus-absence of lower eyelashes syndrome |
2833 | Stiff skin syndrome |
2834 | Wrinkly skin syndrome |
2835 | Pectus excavatum-macrocephaly-dysplastic nails syndrome |
2836 | PEHO syndrome |
2838 | Renal caliceal diverticuli-deafness syndrome |
2839 | Pelvis-shoulder dysplasia |
2840 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome |
2841 | Hailey-Hailey disease |
2842 | Penoscrotal transposition |
2843 | Pentosuria |
2847 | Pericardial and diaphragmatic defect |
2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome |
2849 | Perlman syndrome |
2850 | Alopecia-intellectual disability syndrome |
2854 | Fuhrmann syndrome |
2855 | Perrault syndrome |
2856 | Persistent Müllerian duct syndrome |
2863 | Short stature-wormian bones-dextrocardia syndrome |
2865 | Short stature-webbed neck-heart disease syndrome |
2866 | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
2867 | Short stature, Brussels type |
2868 | Short stature-valvular heart disease-characteristic facies syndrome |
2869 | Peutz-Jeghers syndrome |
2871 | Pfeiffer-Palm-Teller syndrome |
2872 | Cardiocranial syndrome, Pfeiffer type |
2874 | Phakomatosis pigmentokeratotica |
2875 | Phakomatosis pigmentovascularis |
2876 | PHAVER syndrome |
2879 | Phocomelia, Schinzel type |
2880 | Phosphoenolpyruvate carboxykinase deficiency |
2881 | Cutaneous photosensitivity-lethal colitis syndrome |
2882 | Sitosterolemia |
2884 | Piebaldism |
2885 | Piebald trait-neurologic defects syndrome |
2886 | TARP syndrome |
2888 | Pierre Robin syndrome-faciodigital anomaly syndrome |
2889 | Pili torti |
2890 | Pili torti-onychodysplasia syndrome |
2891 | Pili torti-developmental delay-neurological abnormalities syndrome |
2892 | Pilodental dysplasia-refractive errors syndrome |
2896 | Pitt-Hopkins syndrome |
2897 | Pityriasis rubra pilaris |
2898 | X-linked intellectual disability-plagiocephaly syndrome |
2899 | Brachyolmia-amelogenesis imperfecta syndrome |
2900 | Leri pleonosteosis |
2901 | Neuralgic amyotrophy |
2902 | Idiopathic chronic eosinophilic pneumonia |
2903 | Familial spontaneous pneumothorax |
2905 | POEMS syndrome |
2907 | Hereditary acrokeratotic poikiloderma |
2908 | Kindler epidermolysis bullosa |
2909 | Rothmund-Thomson syndrome |
2911 | Poland syndrome |
2912 | Poliomyelitis |
2916 | Postaxial polydactyly-dental and vertebral anomalies syndrome |
2917 | Polydactyly-myopia syndrome |
2919 | Orofaciodigital syndrome type 5 |
2920 | Oliver syndrome |
2921 | Preaxial polydactyly-colobomata-intellectual disability syndrome |
2924 | Isolated polycystic liver disease |
2926 | Digital extensor muscle aplasia-polyneuropathy |
2928 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
2929 | Juvenile polyposis syndrome |
2930 | Cronkhite-Canada syndrome |
2932 | Chronic inflammatory demyelinating polyneuropathy |
2934 | Polysyndactyly-cardiac malformation syndrome |
2935 | Crossed polysyndactyly |
2940 | Porencephaly |
2941 | Porencephaly-cerebellar hypoplasia-internal malformations syndrome |
2942 | Postpoliomyelitis syndrome |
2946 | Brachydactyly-long thumb syndrome |
2947 | Triphalangeal thumbs-brachyectrodactyly syndrome |
2951 | Absent thumb-short stature-immunodeficiency syndrome |
2952 | Adducted thumbs-arthrogryposis syndrome, Christian type |
2953 | Musculocontractural Ehlers-Danlos syndrome |
2956 | Acrodysplasia scoliosis |
2957 | Guttmacher syndrome |
2958 | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
2959 | Progeria-short stature-pigmented nevi syndrome |
2962 | De Barsy syndrome |
2963 | Progeroid syndrome, Petty type |
2964 | Autosomal dominant prognathism |
2965 | Prolactinoma |
2966 | Properdin deficiency |
2967 | Transcobalamin I deficiency |
2968 | Leukocyte adhesion deficiency |
2969 | Proteus-like syndrome |
2970 | Prune belly syndrome |
2971 | Peroxisomal acyl-CoA oxidase deficiency |
2972 | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome |
2973 | 46,XX difference of sex development-anorectal anomalies syndrome |
2975 | 46,XX difference of sex development-skeletal anomalies syndrome |
2976 | Pseudoleprechaunism syndrome, Patterson type |
2978 | Chronic intestinal pseudoobstruction |
2980 | Acrootoocular syndrome |
2983 | Difference of sex development-intellectual disability syndrome |
2985 | Pseudoprogeria syndrome |
2987 | Antecubital pterygium syndrome |
2988 | Pterygium colli-intellectual disability-digital anomalies syndrome |
2989 | Familial pterygium of the conjunctiva |
2990 | Autosomal recessive multiple pterygium syndrome |
2994 | Short stature-craniofacial anomalies-genital hypoplasia syndrome |
2995 | Baraitser-Winter cerebrofrontofacial syndrome |
2997 | Ptosis-vocal cord paralysis syndrome |
2999 | Ptosis-strabismus-ectopic pupils syndrome |
3000 | Familial peripheral male-limited precocious puberty |
3002 | Immune thrombocytopenia |
3003 | Pyknoachondrogenesis |
3004 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome |
3005 | Pyle disease |
3006 | Pyridoxine-dependent epilepsy |
3008 | Pyruvate carboxylase deficiency |
3010 | Qazi-Markouizos syndrome |
3011 | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
3015 | Radio-renal syndrome |
3016 | Absent radius-anogenital anomalies syndrome |
3018 | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome |
3019 | Ramon syndrome |
3020 | Ramsay Hunt syndrome |
3021 | RAPADILINO syndrome |
3023 | External auditory canal atresia-vertical talus-hypertelorism syndrome |
3026 | Radial ray hypoplasia-choanal atresia syndrome |
3027 | Caudal regression syndrome |
3032 | NPHP3-related Meckel-like syndrome |
3033 | Renal tubular dysgenesis |
3034 | Delayed membranous cranial ossification |
3035 | Growth delay-hydrocephaly-lung hypoplasia syndrome |
3038 | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome |
3041 | Intellectual disability-balding-patella luxation-acromicria syndrome |
3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
3044 | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome |
3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type |
3051 | Nicolaides-Baraitser syndrome |
3052 | X-linked intellectual disability-seizures-psoriasis syndrome |
3055 | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome |
3057 | Monoamine oxidase A deficiency |
3063 | X-linked intellectual disability, Snyder type |
3068 | Intellectual disability-myopathy-short stature-endocrine defect syndrome |
3071 | Costello syndrome |
3074 | Intellectual disability-short stature-hypertelorism syndrome |
3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome |
3078 | Severe X-linked intellectual disability, Gustavson type |
3079 | Intellectual disability, Buenos-Aires type |
3080 | Intellectual disability, Wolff type |
3082 | Intellectual disability-polydactyly-uncombable hair syndrome |
3085 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome |
3086 | Autosomal dominant vitreoretinochoroidopathy |
3088 | Revesz syndrome |
3092 | Fixed subaortic stenosis |
3093 | Congenital aortic valve stenosis |
3095 | Atypical Rett syndrome |
3096 | Reye syndrome |
3097 | Meacham syndrome |
3098 | Rhizomelic syndrome, Urbach type |
3099 | Rheumatic fever |
3101 | Richieri Costa-da Silva syndrome |
3102 | Richieri Costa-Pereira syndrome |
3103 | Roberts syndrome |
3104 | Robin sequence-oligodactyly syndrome |
3107 | Autosomal dominant Robinow syndrome |
3109 | Mayer-Rokitansky-Küster-Hauser syndrome |
3110 | Rombo syndrome |
3111 | Rotor syndrome |
3115 | Roussy-Lévy syndrome |
3121 | Ruvalcaba syndrome |
3124 | Saccharopinuria |
3129 | Sarcosinemia |
3130 | Satoyoshi syndrome |
3132 | Say-Barber-Miller syndrome |
3134 | SCARF syndrome |
3137 | Alpha-N-acetylgalactosaminidase deficiency |
3138 | Ulnar-mammary syndrome |
3143 | Autoimmune polyendocrinopathy type 2 |
3144 | Schneckenbecken dysplasia |
3145 | Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome |
3148 | Malignant peripheral nerve sheath tumor |
3151 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
3152 | Sclerosteosis |
3156 | Senior-Loken syndrome |
3157 | Septo-optic dysplasia spectrum |
3161 | Congenital pulmonary sequestration |
3162 | Sézary syndrome |
3163 | SHORT syndrome |
3164 | Omphalocele syndrome, Shprintzen-Goldberg type |
3165 | Eosinophilic fasciitis |
3166 | Sialuria |
3167 | Siegler-Brewer-Carey syndrome |
3168 | Sillence syndrome |
3169 | Sirenomelia |
3172 | Eyebrow duplication-syndactyly syndrome |
3173 | Infantile spasms-broad thumbs syndrome |
3175 | X-linked spasticity-intellectual disability-epilepsy syndrome |
3176 | Spina bifida-hypospadias syndrome |
3177 | Spinocerebellar degeneration-corneal dystrophy syndrome |
3180 | Spondylocamptodactyly syndrome |
3181 | Sprengel deformity |
3184 | Steatocystoma multiplex-natal teeth syndrome |
3186 | Holoprosencephaly-radial heart renal anomalies syndrome |
3189 | Congenital pulmonary valvar stenosis |
3190 | Subpulmonary stenosis |
3191 | Subaortic stenosis-short stature syndrome |
3192 | Supravalvular pulmonary stenosis |
3193 | Supravalvular aortic stenosis |
3194 | Corneodermatoosseous syndrome |
3196 | Steroid dehydrogenase deficiency-dental anomalies syndrome |
3197 | Hereditary hyperekplexia |
3198 | Stiff person spectrum disorder |
3199 | Stimmler syndrome |
3200 | Arthrogryposis-ectodermal dysplasia syndrome |
3201 | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome |
3202 | Dehydrated hereditary stomatocytosis |
3203 | Overhydrated hereditary stomatocytosis |
3204 | Stormorken-Sjaastad-Langslet syndrome |
3205 | Sturge-Weber syndrome |
3206 | Stüve-Wiedemann syndrome |
3207 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
3208 | Isolated succinate-CoQ reductase deficiency |
3214 | Deaf blind hypopigmentation syndrome, Yemenite type |
3216 | Conductive deafness-malformed external ear syndrome |
3217 | Deafness-small bowel diverticulosis-neuropathy syndrome |
3218 | Deafness-epiphyseal dysplasia-short stature syndrome |
3219 | Fountain syndrome |
3220 | Deafness-enamel hypoplasia-nail defects syndrome |
3222 | Phosphoribosylpyrophosphate synthetase superactivity |
3224 | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
3225 | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
3230 | Deafness-oligodontia syndrome |
3232 | Deafness-ear malformation-facial palsy syndrome |
3233 | Cochleosaccular degeneration-cataract syndrome |
3235 | Progressive deafness with stapes fixation |
3236 | Conductive deafness-ptosis-skeletal anomalies syndrome |
3237 | Multiple synostoses syndrome |
3238 | Cardiospondylocarpofacial syndrome |
3239 | Deafness-vitiligo-achalasia syndrome |
3240 | Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome |
3241 | Deafness-craniofacial syndrome |
3242 | Renpenning syndrome |
3243 | Sweet syndrome |
3246 | Symphalangism with multiple anomalies of hands and feet |
3248 | Isolated distal symphalangism |
3250 | Proximal symphalangism |
3253 | Cleft lip/palate-ectodermal dysplasia syndrome |
3255 | Filippi syndrome |
3258 | Cenani-Lenz syndrome |
3259 | Syndactyly-polydactyly-ear lobe syndrome |
3260 | Idiopathic hypereosinophilic syndrome |
3261 | Autoimmune lymphoproliferative syndrome |
3262 | Dobrow syndrome |
3263 | Syngnathia-cleft palate syndrome |
3265 | Isolated humero-radial synostosis |
3266 | Isolated humero-radio-ulnar synostosis |
3268 | Radioulnar synostosis-microcephaly-scoliosis syndrome |
3269 | Isolated radio-ulnar synostosis |
3270 | Radioulnar synostosis-developmental delay-hypotonia syndrome |
3273 | Synovial sarcoma |
3275 | Spondylocarpotarsal synostosis |
3282 | Multifocal atrial tachycardia |
3283 | His bundle tachycardia |
3286 | Catecholaminergic polymorphic ventricular tachycardia |
3287 | Takayasu arteritis |
3291 | Teebi-Shaltout syndrome |
3292 | Tel Hashomer camptodactyly syndrome |
3293 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome |
3294 | Extensor tendons of finger anomalies |
3299 | Tetanus |
3301 | Tetraamelia-multiple malformations syndrome |
3303 | Tetralogy of Fallot |
3304 | Fallot complex-intellectual disability-growth delay syndrome |
3305 | Tetraploidy |
3306 | Inverted duplicated chromosome 15 syndrome |
3307 | Tetrasomy 18p |
3309 | Tetrasomy 5p |
3310 | Tetrasomy 9p |
3312 | Thalidomide embryopathy |
3314 | Thiemann disease, familial form |
3316 | Thomas syndrome |
3317 | Thoracolaryngopelvic dysplasia |
3318 | Essential thrombocythemia |
3319 | Congenital amegakaryocytic thrombocytopenia |
3320 | Thrombocytopenia-absent radius syndrome |
3322 | Hoyeraal-Hreidarsson syndrome |
3324 | Familial thrombomodulin anomalies |
3325 | Heparin-induced thrombocytopenia |
3326 | Thymic-renal-anal-lung dysplasia |
3327 | Thyrocerebrorenal syndrome |
3328 | Absent tibia-polydactyly-arachnoid cyst syndrome |
3329 | Tibial aplasia-ectrodactyly syndrome |
3337 | Primary Fanconi renotubular syndrome |
3338 | Toriello-Carey syndrome |
3339 | Oculoectodermal syndrome |
3341 | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
3342 | Arterial tortuosity syndrome |
3343 | Toxocariasis |
3344 | Weismann-Netter syndrome |
3346 | Tracheal agenesis |
3347 | Mounier-Kühn syndrome |
3348 | Tracheobronchopathia osteochondroplastica |
3350 | Tremor-nystagmus-duodenal ulcer syndrome |
3351 | Trichodental syndrome |
3352 | Tricho-dento-osseous syndrome |
3353 | Trichodermodysplasia-dental alterations syndrome |
3355 | Trichoodontoonychial dysplasia |
3361 | Trichodysplasia-xeroderma syndrome |
3363 | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
3365 | Trigonocephaly-broad thumbs syndrome |
3366 | Non-syndromic metopic craniosynostosis |
3368 | Trigonocephaly-bifid nose-acral anomalies syndrome |
3369 | Trigonocephaly-short stature-developmental delay syndrome |
3374 | Unilateral ocular duplication |
3375 | Trisomy X |
3376 | Triploidy |
3377 | Trismus-pseudocamptodactyly syndrome |
3378 | Trisomy 13 |
3379 | Distal duplication 17q |
3380 | Trisomy 18 |
3383 | Humerus trochlea aplasia |
3384 | Common arterial trunk |
3385 | African trypanosomiasis |
3386 | American trypanosomiasis |
3387 | Isolated anterior cervical hypertrichosis |
3392 | Tularemia |
3400 | Aorto-ventricular tunnel |
3402 | Transient tyrosinemia of the newborn |
3403 | Uhl anomaly |
3404 | Ulbright-Hodes syndrome |
3405 | Umbilical cord ulceration-intestinal atresia syndrome |
3406 | Ulerythema ophryogenesis |
3408 | Upington disease |
3409 | Urban-Rogers-Meyer syndrome |
3411 | Double uterus-hemivagina-renal agenesis syndrome |
3412 | VACTERL with hydrocephalus |
3416 | Hyperostosis corticalis generalisata |
3417 | Van den Bosch syndrome |
3424 | Velo-facial-skeletal syndrome |
3426 | Double outlet right ventricle |
3427 | Double outlet left ventricle |
3429 | Verloove Vanhorick-Brubakk syndrome |
3433 | Microcephaly-brachydactyly-kyphoscoliosis syndrome |
3434 | MMEP syndrome |
3437 | Vogt-Koyanagi-Harada disease |
3439 | Von Voss-Cherstvoy syndrome |
3440 | Waardenburg syndrome |
3447 | Weaver syndrome |
3448 | Weaver-Williams syndrome |
3449 | Weill-Marchesani syndrome |
3451 | Infantile spasms syndrome |
3452 | Whipple disease |
3453 | Autoimmune polyendocrinopathy type 1 |
3454 | Intellectual disability-developmental delay-contractures syndrome |
3455 | Wiedemann-Rautenstrauch syndrome |
3456 | Wildervanck syndrome |
3459 | Wilson-Turner syndrome |
3463 | Wolfram syndrome |
3464 | Woodhouse-Sakati syndrome |
3465 | Worster-Drought syndrome |
3466 | WT limb-blood syndrome |
3467 | Hereditary xanthinuria |
3469 | XK aprosencephaly syndrome |
3471 | Young syndrome |
3472 | Yunis-Varon syndrome |
3473 | Zimmermann-Laband syndrome |
3474 | CHIME syndrome |
25968 | Benign occipital epilepsy |
25980 | X-linked myopathy with excessive autophagy |
26106 | Hereditary diffuse gastric cancer |
26137 | Juvenile temporal arteritis |
26348 | Acquired prothrombin deficiency |
26349 | Protein S acquired deficiency |
26790 | Pseudomyxoma peritonei |
26791 | Multiple acyl-CoA dehydrogenase deficiency |
26792 | Short chain acyl-CoA dehydrogenase deficiency |
26793 | Very long chain acyl-CoA dehydrogenase deficiency |
28378 | Tyrosinemia type 2 |
29072 | Hereditary pheochromocytoma-paraganglioma |
29073 | Multiple myeloma |
29207 | Reactive arthritis |
29822 | Spontaneous periodic hypothermia |
30391 | Isolated biliary atresia |
30924 | Primary hypomagnesemia with secondary hypocalcemia |
30925 | Hereditary arginine vasopressin deficiency |
31043 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement |
31112 | Dermatofibrosarcoma protuberans |
31150 | Tangier disease |
31202 | Melioidosis |
31204 | Nocardiosis |
31205 | Rat-bite fever |
31709 | Infantile convulsions and choreoathetosis |
31824 | Colchicine poisoning |
31825 | Methanol poisoning |
31826 | Ethylene glycol poisoning |
31827 | Paraquat poisoning |
31828 | Digitalis poisoning |
31837 | Pulmonary venoocclusive disease |
32960 | Tumor necrosis factor receptor 1 associated periodic syndrome |
33001 | Lymphedema-distichiasis syndrome |
33067 | Metaphyseal chondrodysplasia, Jansen type |
33069 | Dravet syndrome |
33108 | Lethal multiple pterygium syndrome |
33110 | Autosomal agammaglobulinemia |
33111 | Granulomatous slack skin |
33208 | Idiopathic hypersomnia |
33226 | Waldenström macroglobulinemia |
33276 | Kaposi sarcoma |
33314 | Jessner lymphocytic infiltration of the skin |
33355 | Reticular dysgenesis |
33364 | Trichothiodystrophy |
33402 | Pediatric hepatocellular carcinoma |
33408 | Bullous lichen planus |
33445 | Neuroectodermal melanolysosomal disease |
33475 | Meningococcal meningitis |
33543 | Kleine-Levin syndrome |
33572 | 5-oxoprolinase deficiency |
33573 | Gamma-glutamyl transpeptidase deficiency |
33574 | Glutamate-cysteine ligase deficiency |
33577 | Nodular non-suppurative panniculitis |
34145 | Immunoglobulin A nephropathy |
34149 | Autosomal dominant tubulointerstitial kidney disease |
34217 | Naxos disease |
34514 | Telethonin-related limb-girdle muscular dystrophy R7 |
34515 | FKRP-related limb-girdle muscular dystrophy R9 |
34516 | DNAJB6-related limb-girdle muscular dystrophy D1 |
34520 | Congenital muscular dystrophy with integrin alpha-7 deficiency |
34528 | Autosomal dominant primary hypomagnesemia with hypocalciuria |
34587 | Danon disease |
34592 | Immunodeficiency by defective expression of MHC class I |
35062 | Severe disseminated cytomegalovirus infection in immunocompetent patients |
35063 | Fulminant viral hepatitis |
35069 | Infantile neuroaxonal dystrophy |
35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency |
35093 | Non-syndromic sagittal craniosynostosis |
35099 | Non-syndromic bicoronal craniosynostosis |
35107 | Desmosterolosis |
35120 | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
35121 | Lysosomal acid phosphatase deficiency |
35122 | Congenital sucrase-isomaltase deficiency |
35125 | Epidermal nevus syndrome |
35173 | X-linked dominant chondrodysplasia punctata |
35612 | Nanophthalmos |
35664 | ALDH18A1-related De Barsy syndrome |
35686 | Serpiginous choroiditis |
35687 | Erdheim-Chester disease |
35689 | Primary lateral sclerosis |
35701 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
35704 | L-Arginine:glycine amidinotransferase deficiency |
35706 | Glutaric acidemia type 3 |
35708 | Aromatic L-amino acid decarboxylase deficiency |
35710 | Glucose-galactose malabsorption |
35737 | Morning glory disc anomaly |
35858 | Imerslund-Gräsbeck syndrome |
35878 | Hyperinsulinism-hyperammonemia syndrome |
35889 | Acute opioid intoxication |
35909 | Combined deficiency of factor V and factor VIII |
36234 | Bacterial toxic-shock syndrome |
36235 | Staphylococcal scarlet fever |
36236 | Staphylococcal scalded skin syndrome |
36237 | Bullous impetigo |
36238 | Staphylococcal necrotizing pneumonia |
36258 | Buerger disease |
36273 | Gastric linitis plastica |
36355 | Bleeding disorder due to P2Y12 defect |
36367 | Distal deletion 1q |
36382 | Familial cervical artery dissection |
36383 | COL4A1/2-related familial vascular leukoencephalopathy |
36386 | Hereditary sensory and autonomic neuropathy type 1 |
36387 | Generalized epilepsy with febrile seizures-plus |
36397 | Adiposis dolorosa |
36412 | Hypocomplementemic urticarial vasculitis |
36426 | Stevens-Johnson syndrome |
36899 | Myoclonus-dystonia syndrome |
36913 | Autoimmune hypoparathyroidism |
37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
37202 | Interstitial cystitis |
37553 | Andersen-Tawil syndrome |
37559 | Acquired kinky hair syndrome |
37612 | Episodic ataxia type 1 |
37748 | Schnitzler syndrome |
38874 | Dihydropyrimidinuria |
39041 | Omenn syndrome |
39044 | Uveal melanoma |
39812 | Graft versus host disease |
40366 | Acitretin/etretinate embryopathy |
40923 | Eales disease |
41751 | Bietti crystalline dystrophy |
42062 | Iminoglycinuria |
42642 | PFAPA syndrome |
42665 | Tietz syndrome |
42775 | PHACE syndrome |
43115 | Hereditary myopathy with lactic acidosis due to ISCU deficiency |
43116 | Serotonin syndrome |
43117 | Acute tricyclic antidepressant poisoning |
43119 | Acute poisoning by drugs with membrane-stabilizing effect |
43393 | Lambert-Eaton myasthenic syndrome |
44890 | Gastrointestinal stromal tumor |
45358 | Congenital fibrosis of extraocular muscles |
45448 | Miyoshi myopathy |
45452 | Idiopathic neonatal atrial flutter |
45453 | Incessant infant ventricular tachycardia |
46059 | Lathosterolosis |
46135 | Primary central nervous system lymphoma |
46348 | Paroxysmal extreme pain disorder |
46486 | Mucous membrane pemphigoid |
46487 | Epidermolysis bullosa acquisita |
46488 | Linear IgA dermatosis |
46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
46627 | Char syndrome |
46724 | Cerebral arteriovenous malformation |
47044 | Hereditary papillary renal cell carcinoma |
47045 | Familial cold urticaria |
47159 | Proximal renal tubular acidosis |
47612 | Felty syndrome |
48104 | Pyoderma gangrenosum |
48162 | Lewis-Sumner syndrome |
48372 | Nodular regenerative hyperplasia of the liver |
48377 | Subcorneal pustular dermatosis |
48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome |
48435 | Postinfectious vasculitis |
48652 | Phelan-McDermid syndrome |
48686 | Primary effusion lymphoma |
48736 | Embryonal carcinoma of the central nervous system |
48818 | Aceruloplasminemia |
48918 | Focal myositis |
49041 | IgG4-related retroperitoneal fibrosis |
49042 | Dentinogenesis imperfecta |
49382 | Achromatopsia |
49566 | Acquired purpura fulminans |
49804 | Lichen amyloidosis |
49827 | Thiamine-responsive megaloblastic anemia syndrome |
50251 | Pleural mesothelioma |
50809 | Talo-patello-scaphoid osteolysis |
50810 | Microlissencephaly-micromelia syndrome |
50811 | Lipodystrophy-intellectual disability-deafness syndrome |
50812 | Zellweger-like syndrome without peroxisomal anomalies |
50814 | Craniolenticulosutural dysplasia |
50815 | Branchiogenic deafness syndrome |
50817 | Duane anomaly-myopathy-scoliosis syndrome |
50839 | Cat-scratch disease |
50918 | Kikuchi-Fujimoto disease |
50942 | Striate palmoplantar keratoderma |
50943 | Keratolytic winter erythema |
50944 | Schöpf-Schulz-Passarge syndrome |
50945 | Blomstrand lethal chondrodysplasia |
51083 | Familial short QT syndrome |
51084 | Torsade-de-pointes syndrome with short coupling interval |
51188 | Ethylmalonic encephalopathy |
51208 | Formiminoglutamic aciduria |
51608 | Generalized arterial calcification of infancy |
51636 | WHIM syndrome |
51890 | Anterior cutaneous nerve entrapment syndrome |
52022 | Potocki-Shaffer syndrome |
52047 | Braddock syndrome |
52054 | Craniosynostosis-intracranial calcifications syndrome |
52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
52056 | Ulnar/fibula ray defect-brachydactyly syndrome |
52368 | Mohr-Tranebjaerg syndrome |
52416 | Mantle cell lymphoma |
52417 | MALT lymphoma |
52427 | Retinitis punctata albescens |
52429 | Branchiootic syndrome |
52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
52503 | X-linked creatine transporter deficiency |
52530 | Pseudo-von Willebrand disease |
52901 | Isolated follicle stimulating hormone deficiency |
52994 | Orbital leiomyoma |
53035 | Caroli disease |
53271 | Muenke syndrome |
53296 | Familial cutaneous collagenoma |
53347 | Brody myopathy |
53351 | X-linked dystonia-parkinsonism |
53372 | Hereditary geniospasm |
53540 | Goldmann-Favre syndrome |
53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
53689 | Congenital chloride diarrhea |
53690 | Congenital lactase deficiency |
53691 | Congenital cornea plana |
53693 | GRACILE syndrome |
53696 | Arthrogryposis-anterior horn cell disease syndrome |
53697 | Gnathodiaphyseal dysplasia |
53698 | Myosin storage myopathy |
53715 | Familial tumoral calcinosis |
53719 | Wyburn-Mason syndrome |
53721 | Spinal arteriovenous metameric syndrome |
54028 | Plummer-Vinson syndrome |
54057 | Thrombotic thrombocytopenic purpura |
54247 | Posterior cortical atrophy |
54251 | Aseptic abscess syndrome |
54260 | Left ventricular noncompaction |
54272 | Hepatocellular adenoma |
54368 | Sarcocystosis |
54370 | Primary membranoproliferative glomerulonephritis |
54595 | Craniopharyngioma |
55595 | TNP03-related limb-girdle muscular dystrophy D2 |
55596 | HNRNPDL-related limb-girdle muscular dystrophy D3 |
55654 | Hypotrichosis simplex |
55655 | Pneumococcal meningitis |
55880 | Chondrosarcoma |
55881 | Adamantinoma |
56304 | Atelosteogenesis type II |
56305 | Atelosteogenesis type III |
56425 | Cold agglutinin disease |
57145 | SUNCT syndrome |
57196 | Medial condensing osteitis of the clavicle |
57777 | Cirrhotic cardiomyopathy |
57782 | Mazabraud syndrome |
58017 | Classic hairy cell leukemia |
58040 | Osteoblastoma |
59135 | Laing early-onset distal myopathy |
59181 | Sorsby pseudoinflammatory fundus dystrophy |
59298 | Schilder disease |
59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome |
59306 | McLeod neuroacanthocytosis syndrome |
59315 | Rhombencephalosynapsis |
60014 | Argyria |
60015 | Enlarged parietal foramina |
60025 | Pulmonary alveolar microlithiasis |
60026 | Pulmonary nodular lymphoid hyperplasia |
60030 | Loeys-Dietz syndrome |
60032 | Recurrent respiratory papillomatosis |
60033 | Idiopathic bronchiectasis |
60039 | Pudendal nerve entrapment syndrome |
60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome |
60041 | Congenital heart block |
63259 | Iniencephaly |
63260 | Craniorachischisis |
63269 | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis |
63273 | Distal myopathy with posterior leg and anterior hand involvement |
63275 | Pemphigoid gestationis |
63442 | Angel-shaped phalango-epiphyseal dysplasia |
63446 | Acrocapitofemoral dysplasia |
63455 | Paraneoplastic pemphigus |
63862 | Schisis association |
63999 | IgG4-related mediastinitis |
64280 | Childhood absence epilepsy |
64542 | Acrofacial dysostosis, Kennedy-Teebi type |
64545 | Benign idiopathic neonatal seizures |
64686 | Tolosa-Hunt syndrome |
64692 | Bartonella bacilliformis infection |
64694 | Trench fever |
64720 | Leiomyosarcoma |
64722 | Granulomatous mastitis |
64734 | Iridocorneal endothelial syndrome |
64739 | Ovarian hyperstimulation syndrome |
64741 | Pulmonary blastoma |
64742 | Pleuropulmonary blastoma |
64743 | Hepatoportal sclerosis |
64744 | IgG4-related thyroid disease |
64745 | Pruritic urticarial papules and plaques of pregnancy |
64748 | Dejerine-Sottas syndrome |
64751 | Hereditary motor and sensory neuropathy type 5 |
64752 | Hereditary sensory and autonomic neuropathy type 5 |
64753 | Spinocerebellar ataxia with axonal neuropathy type 2 |
64754 | Nevus comedonicus syndrome |
64755 | Becker nevus syndrome |
65282 | Carvajal syndrome |
65283 | Timothy syndrome |
65284 | Biotin-thiamine-responsive basal ganglia disease |
65285 | Lhermitte-Duclos disease |
65286 | 3q29 microdeletion syndrome |
65287 | Beta-ureidopropionase deficiency |
65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
65681 | Vaginal atresia |
65682 | Benign recurrent intrahepatic cholestasis |
65683 | Isolated focal cortical dysplasia |
65684 | Monomelic amyotrophy |
65720 | Arthrogryposis-severe scoliosis syndrome |
65743 | Autosomal dominant multiple pterygium syndrome |
65748 | Multiple self-healing squamous epithelioma |
65759 | Carpenter syndrome |
66518 | Short fifth metacarpals-insulin resistance syndrome |
66529 | Tako-Tsubo cardiomyopathy |
66624 | PANDAS |
66625 | Cerebrooculonasal syndrome |
66627 | Tenosynovial giant cell tumor |
66628 | Obesity due to congenital leptin deficiency |
66629 | Goldberg-Shprintzen megacolon syndrome |
66630 | Congenital pseudoarthrosis of the clavicle |
66631 | CEDNIK syndrome |
66633 | Sensorineural hearing loss-early graying-essential tremor syndrome |
66634 | Dilated cardiomyopathy with ataxia |
66637 | Diaphanospondylodysostosis |
66661 | Mast cell sarcoma |
66662 | Extracutaneous mastocytoma |
67036 | Autosomal dominant optic atrophy and cataract |
67038 | B-cell chronic lymphocytic leukemia |
67039 | Segmental odontomaxillary dysplasia |
67041 | Hyaluronidase deficiency |
67042 | Late-onset retinal degeneration |
67043 | Amoebic keratitis |
67044 | Thrombocytopenia with congenital dyserythropoietic anemia |
67045 | X-linked intellectual disability with isolated growth hormone deficiency |
67046 | 3-methylglutaconic aciduria type 1 |
67047 | 3-methylglutaconic aciduria type 3 |
67048 | 3-methylglutaconic aciduria type 4 |
69061 | Idiopathic steroid-sensitive nephrotic syndrome |
69063 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
69076 | Familial renal glucosuria |
69077 | Rhabdoid tumor |
69078 | Liposarcoma |
69082 | Odonto-tricho-ungual-digito-palmar syndrome |
69083 | Ectodermal dysplasia with natal teeth, Turnpenny type |
69084 | Pure hair and nail ectodermal dysplasia |
69085 | Limb-mammary syndrome |
69087 | Naegeli-Franceschetti-Jadassohn syndrome |
69088 | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome |
69125 | Anonychia with flexural pigmentation |
69126 | PAPA syndrome |
69663 | Low phospholipid-associated cholelithiasis |
69665 | Intrahepatic cholestasis of pregnancy |
69723 | Tyrosinemia type 3 |
69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
69736 | Bilateral acute depigmentation of the iris |
69737 | Bosley-Salih-Alorainy syndrome |
69739 | Athabaskan brainstem dysgenesis syndrome |
69744 | Circumscribed palmoplantar hypokeratosis |
69745 | Warty dyskeratoma |
70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
70475 | Radiation proctitis |
70476 | Vernal keratoconjunctivitis |
70567 | Cholangiocarcinoma |
70568 | Post-transplant lymphoproliferative disease |
70573 | Small cell lung cancer |
70578 | Adult acute respiratory distress syndrome |
70587 | Infant acute respiratory distress syndrome |
70588 | Meconium aspiration syndrome |
70589 | Bronchopulmonary dysplasia |
70590 | Infantile apnea |
70591 | Chronic thromboembolic pulmonary hypertension |
70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
70593 | Immunodeficiency due to selective anti-polysaccharide antibody deficiency |
70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency |
70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome |
70596 | Congenital Epstein-Barr virus infection |
71211 | Neuromyelitis optica spectrum disorder |
71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency |
71213 | Retinal capillary malformation |
71267 | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome |
71271 | Split hand-split foot-deafness syndrome |
71272 | Sandifer syndrome |
71273 | Renal nutcracker syndrome |
71274 | Disseminated peritoneal leiomyomatosis |
71275 | Rh deficiency syndrome |
71276 | Silent sinus syndrome |
71277 | Classic glucose transporter type 1 deficiency syndrome |
71278 | Congenital brain dysgenesis due to glutamine synthetase deficiency |
71279 | CANOMAD syndrome |
71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
71290 | Familial platelet disorder with associated myeloid malignancy |
71493 | Familial thrombocytosis |
71505 | Cancer-associated retinopathy |
71517 | Rapid-onset dystonia-parkinsonism |
71518 | Benign paroxysmal torticollis of infancy |
71519 | Psychogenic movement disorders |
71526 | Obesity due to pro-opiomelanocortin deficiency |
71528 | Obesity due to prohormone convertase I deficiency |
71529 | Obesity due to melanocortin 4 receptor deficiency |
73223 | Global developmental delay-osteopenia-ectodermal defect syndrome |
73224 | Kidney tubulopathy-dilated cardiomyopathy syndrome |
73229 | HANAC syndrome |
73230 | Ossification anomalies-psychomotor developmental delay syndrome |
73245 | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome |
73246 | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome |
73256 | Central neurocytoma |
73260 | Paracoccidioidomycosis |
73263 | Zygomycosis |
73267 | Non-24-hour sleep-wake syndrome |
73271 | Bleeding diathesis due to a collagen receptor defect |
73272 | Growth delay due to insulin-like growth factor type 1 deficiency |
73273 | Growth delay due to insulin-like growth factor I resistance |
73423 | Acute ackee fruit intoxication |
75233 | Wolman disease |
75234 | Cholesteryl ester storage disease |
75249 | Familial isolated restrictive cardiomyopathy |
75325 | Osteosclerosis-ichthyosis-premature ovarian failure syndrome |
75326 | Familial isolated retinal arteriolar tortuosity |
75327 | North Carolina macular dystrophy |
75373 | Progressive bifocal chorioretinal atrophy |
75374 | Bradyopsia |
75376 | Familial drusen |
75377 | Central areolar choroidal dystrophy |
75378 | Oligocone trichromacy |
75381 | Cystoid macular dystrophy |
75382 | Oguchi disease |
75389 | Brain malformation-congenital heart disease-postaxial polydactyly syndrome |
75391 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
75392 | Periodontal Ehlers-Danlos syndrome |
75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome |
75497 | X-linked Ehlers-Danlos syndrome |
75508 | Angioosteohypotrophic syndrome |
75563 | X-linked sideroblastic anemia |
75564 | Acquired idiopathic sideroblastic anemia |
75565 | Tropical endomyocardial fibrosis |
75566 | Loeffler endocarditis |
75567 | Primary progressive freezing gait |
75840 | Ullrich congenital muscular dystrophy |
75857 | 6q terminal deletion syndrome |
75858 | MORM syndrome |
77258 | Trichorhinophalangeal syndrome type 1 |
77259 | Gaucher disease type 1 |
77260 | Gaucher disease type 2 |
77261 | Gaucher disease type 3 |
77292 | Infantile neurovisceral acid sphingomyelinase deficiency |
77293 | Chronic visceral acid sphingomyelinase deficiency |
77295 | Odontoleukodystrophy |
77296 | Morgagni-Stewart-Morel syndrome |
77297 | Majeed syndrome |
77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome |
77299 | Microphthalmia-brain atrophy syndrome |
77300 | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome |
77301 | Monosomy 9q22.3 |
79076 | Juvenile polyposis of infancy |
79078 | IgG4-related dacryoadenitis and sialadenitis |
79083 | PPARG-related familial partial lipodystrophy |
79084 | Familial partial lipodystrophy, Köbberling type |
79085 | AKT2-related familial partial lipodystrophy |
79086 | Acquired generalized lipodystrophy |
79087 | Acquired partial lipodystrophy |
79091 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
79093 | Foix-Alajouanine syndrome |
79094 | Grange syndrome |
79095 | Congenital bile acid synthesis defect type 4 |
79096 | Pyridoxal phosphate-responsive seizures |
79097 | Folinic acid-responsive seizures |
79098 | Sympathetic ophthalmia |
79099 | Interstitial granulomatous dermatitis with arthritis |
79100 | Atrophoderma vermiculata |
79101 | Hyperprolinemia type 2 |
79102 | Thyrotoxic periodic paralysis |
79105 | Myxofibrosarcoma |
79106 | Eiken syndrome |
79107 | Developmental malformations-deafness-dystonia syndrome |
79113 | Mandibulofacial dysostosis-microcephaly syndrome |
79118 | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome |
79126 | Acute interstitial pneumonia |
79127 | Respiratory bronchiolitis-interstitial lung disease syndrome |
79128 | Lymphoid interstitial pneumonia |
79129 | Trichodysplasia-amelogenesis imperfecta syndrome |
79133 | Focal facial dermal dysplasia type I |
79134 | DEND syndrome |
79135 | Episodic ataxia type 3 |
79136 | Episodic ataxia type 4 |
79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome |
79138 | Bickerstaff brainstem encephalitis |
79139 | Japanese encephalitis |
79140 | Cutaneous neuroendocrine carcinoma |
79141 | Hereditary painful callosities |
79143 | Isolated congenital anonychia |
79144 | Isolated congenital onychodysplasia |
79145 | Dowling-Degos disease |
79146 | Familial progressive hyperpigmentation |
79147 | Familial reactive perforating collagenosis |
79148 | Elastosis perforans serpiginosa |
79149 | Dermochondrocorneal dystrophy |
79150 | Linear and whorled nevoid hypermelanosis |
79151 | Acrokeratosis verruciformis of Hopf |
79152 | Disseminated superficial actinic porokeratosis |
79153 | Idiopathic trachyonychia |
79154 | 2-aminoadipic 2-oxoadipic aciduria |
79155 | Hydroxykynureninuria |
79156 | Seizures-intellectual disability due to hydroxylysinuria syndrome |
79157 | 2-methylbutyryl-CoA dehydrogenase deficiency |
79159 | Isobutyryl-CoA dehydrogenase deficiency |
79230 | HJV or HAMP-related hemochromatosis |
79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency |
79234 | Crigler-Najjar syndrome type 1 |
79235 | Crigler-Najjar syndrome type 2 |
79237 | Galactokinase deficiency |
79238 | Galactose epimerase deficiency |
79239 | Classic galactosemia |
79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency |
79241 | Biotinidase deficiency |
79242 | Holocarboxylase synthetase deficiency |
79243 | Pyruvate dehydrogenase E1-alpha deficiency |
79244 | Pyruvate dehydrogenase E2 deficiency |
79246 | Pyruvate dehydrogenase phosphatase deficiency |
79253 | Mild phenylketonuria |
79254 | Classic phenylketonuria |
79255 | GM1 gangliosidosis type 1 |
79256 | GM1 gangliosidosis type 2 |
79257 | GM1 gangliosidosis type 3 |
79258 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib |
79269 | Sanfilippo syndrome type A |
79270 | Sanfilippo syndrome type B |
79271 | Sanfilippo syndrome type C |
79272 | Sanfilippo syndrome type D |
79273 | Hereditary coproporphyria |
79276 | Acute intermittent porphyria |
79277 | Congenital erythropoietic porphyria |
79278 | Autosomal erythropoietic protoporphyria |
79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 |
79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 |
79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 |
79282 | Methylmalonic acidemia with homocystinuria, type cblC |
79283 | Methylmalonic acidemia with homocystinuria, type cblD |
79284 | Methylmalonic acidemia with homocystinuria type cblF |
79292 | Fish-eye disease |
79293 | Familial LCAT deficiency |
79299 | Congenital glucokinase-related hyperinsulinism |
79301 | Congenital bile acid synthesis defect type 1 |
79302 | Congenital bile acid synthesis defect type 3 |
79303 | Congenital bile acid synthesis defect type 2 |
79304 | Progressive familial intrahepatic cholestasis type 2 |
79305 | Progressive familial intrahepatic cholestasis type 3 |
79306 | Progressive familial intrahepatic cholestasis type 1 |
79310 | Vitamin B12-responsive methylmalonic acidemia type cblA |
79311 | Vitamin B12-responsive methylmalonic acidemia type cblB |
79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- |
79314 | L-2-hydroxyglutaric aciduria |
79315 | D-2-hydroxyglutaric aciduria |
79318 | PMM2-CDG |
79319 | MPI-CDG |
79320 | ALG6-CDG |
79321 | ALG3-CDG |
79322 | DPM1-CDG |
79323 | MPDU1-CDG |
79324 | ALG12-CDG |
79325 | ALG8-CDG |
79326 | ALG2-CDG |
79327 | ALG1-CDG |
79328 | ALG9-CDG |
79329 | MGAT2-CDG |
79330 | MOGS-CDG |
79332 | B4GALT1-CDG |
79333 | COG7-CDG |
79345 | Brachytelephalangic chondrodysplasia punctata |
79346 | Chondrodysplasia punctata, tibial-metacarpal type |
79347 | Chondrodysplasia punctata, Toriello type |
79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form |
79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form |
79394 | Congenital ichthyosiform erythroderma |
79395 | Keratoderma hereditarium mutilans with ichthyosis |
79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form |
79397 | Epidermolysis bullosa simplex with mottled pigmentation |
79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form |
79400 | Localized epidermolysis bullosa simplex |
79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement |
79402 | Intermediate generalized junctional epidermolysis bullosa |
79403 | Junctional epidermolysis bullosa with pyloric atresia |
79404 | Severe generalized junctional epidermolysis bullosa |
79405 | Junctional epidermolysis bullosa inversa |
79406 | Late-onset junctional epidermolysis bullosa |
79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
79409 | Recessive dystrophic epidermolysis bullosa inversa |
79410 | Localized dystrophic epidermolysis bullosa, pretibial form |
79411 | Self-improving dystrophic epidermolysis bullosa |
79414 | Woolly hair nevus |
79430 | Hermansky-Pudlak syndrome |
79431 | Oculocutaneous albinism type 1A |
79432 | Oculocutaneous albinism type 2 |
79433 | Oculocutaneous albinism type 3 |
79434 | Oculocutaneous albinism type 1B |
79435 | Oculocutaneous albinism type 4 |
79443 | Pseudohypoparathyroidism type 1A |
79444 | Pseudohypoparathyroidism type 1C |
79445 | Pseudopseudohypoparathyroidism |
79447 | X-linked lethal multiple pterygium syndrome |
79452 | Milroy disease |
79455 | Cutaneous mastocytoma |
79456 | Diffuse cutaneous mastocytosis |
79457 | Maculopapular cutaneous mastocytosis |
79466 | Inflammatory linear verrucous epidermal nevus |
79467 | Verrucous nevus |
79468 | Acanthokeratolytic verrucous nevus |
79473 | Variegate porphyria |
79474 | Atypical Werner syndrome |
79476 | Griscelli syndrome type 1 |
79477 | Griscelli syndrome type 2 |
79478 | Griscelli syndrome type 3 |
79479 | Pemphigus vegetans |
79480 | Pemphigus erythematosus |
79481 | Pemphigus foliaceus |
79483 | Phakomatosis cesioflammea |
79484 | Phakomatosis cesiomarmorata |
79485 | Phakomatosis spilorosea |
79489 | Macrocystic lymphatic malformation |
79490 | Microcystic lymphatic malformation |
79492 | Pili gemini |
79493 | Brooke-Spiegler syndrome |
79495 | X-linked congenital generalized hypertrichosis |
79499 | Autosomal dominant deafness-onychodystrophy syndrome |
79500 | DOORS syndrome |
79501 | Punctate palmoplantar keratoderma type 1 |
79502 | Punctate palmoplantar keratoderma type 2 |
79503 | Ichthyosis hystrix of Curth-Macklin |
79506 | Cholesterol-ester transfer protein deficiency |
79507 | Hypotonia-failure to thrive-microcephaly syndrome |
79643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency |
79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
79651 | Mild hyperphenylalaninemia |
79665 | Gardner syndrome |
83311 | Rocky Mountain spotted fever |
83312 | Rickettsialpox |
83313 | Boutonneuse fever |
83314 | Epidemic typhus |
83315 | Murine typhus |
83316 | Pseudotyphus of California |
83317 | Scrub typhus |
83330 | Proximal spinal muscular atrophy type 1 |
83418 | Proximal spinal muscular atrophy type 2 |
83419 | Proximal spinal muscular atrophy type 3 |
83420 | Proximal spinal muscular atrophy type 4 |
83450 | Regional odontodysplasia |
83451 | Florid cemento-osseous dysplasia |
83452 | Complex regional pain syndrome |
83453 | Vulvovaginal gingival syndrome |
83454 | Glomuvenous malformation |
83461 | Congenital primary aphakia |
83463 | Microtia |
83465 | Narcolepsy type 2 |
83467 | Morvan syndrome |
83468 | Solitary bone cyst |
83469 | Desmoplastic small round cell tumor |
83471 | T-cell immunodeficiency with thymic aplasia |
83472 | CAMOS syndrome |
83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
83476 | West-Nile encephalitis |
83482 | Mycoplasma encephalitis |
83483 | La Crosse encephalitis |
83484 | St. Louis encephalitis |
83593 | Western equine encephalitis |
83594 | Eastern equine encephalitis |
83595 | Colorado tick fever |
83597 | Acute disseminated encephalomyelitis |
83600 | Encephalitis lethargica |
83601 | Steroid-responsive encephalopathy associated with autoimmune thyroiditis |
83616 | Rubella panencephalitis |
83617 | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
83619 | Macrostomia-preauricular tags-external ophthalmoplegia syndrome |
83620 | Enteric anendocrinosis |
83628 | LUMBAR syndrome |
83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome |
83639 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
83642 | Microcytic anemia with liver iron overload |
84064 | Syndromic diarrhea |
84065 | Idiopathic malabsorption due to bile acid synthesis defects |
84081 | Senior-Boichis syndrome |
84085 | Hinman syndrome |
84087 | Collagen type III glomerulopathy |
84090 | Fibronectin glomerulopathy |
84093 | Hereditary thermosensitive neuropathy |
84132 | Desmin-related myopathy with Mallory body-like inclusions |
84142 | Isaacs syndrome |
85110 | Familial encephalopathy with neuroserpin inclusion bodies |
85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
85128 | Bothnia retinal dystrophy |
85136 | Cystic leukoencephalopathy without megalencephaly |
85138 | Addison disease |
85146 | Neurogenic scapuloperoneal syndrome, Kaeser type |
85162 | Facial onset sensory and motor neuronopathy |
85163 | Hypomyelination-congenital cataract syndrome |
85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
85166 | Platyspondylic dysplasia, Torrance type |
85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
85168 | Craniofacial conodysplasia |
85169 | Familial digital arthropathy-brachydactyly |
85170 | Mesomelic dysplasia, Savarirayan type |
85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
85173 | IMAGe syndrome |
85174 | Pseudodiastrophic dysplasia |
85175 | Astley-Kendall dysplasia |
85179 | Infantile osteopetrosis with neuroaxonal dysplasia |
85182 | Diaphyseal medullary stenosis-bone malignancy syndrome |
85184 | Craniometadiaphyseal dysplasia, wormian bone type |
85186 | Endosteal sclerosis-cerebellar hypoplasia syndrome |
85188 | Metaphyseal dysplasia, Braun-Tinschert type |
85191 | Singleton-Merten dysplasia |
85192 | Calvarial doughnut lesions-bone fragility syndrome |
85193 | Idiopathic juvenile osteoporosis |
85194 | Spondylo-ocular syndrome |
85195 | Familial expansile osteolysis |
85197 | Genochondromatosis type 1 |
85198 | Dysspondyloenchondromatosis |
85199 | Craniosynostosis-anal anomalies-porokeratosis syndrome |
85201 | Genitopatellar syndrome |
85202 | Keutel syndrome |
85203 | Acropectoral syndrome |
85212 | Fetal Gaucher disease |
85273 | X-linked intellectual disability, Abidi type |
85274 | Syndromic X-linked intellectual disability 7 |
85275 | Microphthalmia-ankyloblepharon-intellectual disability syndrome |
85276 | X-linked intellectual disability, Armfield type |
85277 | X-linked intellectual disability, Cantagrel type |
85278 | Christianson syndrome |
85279 | KDM5C-related syndromic X-linked intellectual disability |
85280 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome |
85282 | MEHMO syndrome |
85283 | X-linked intellectual disability, Miles-Carpenter type |
85284 | BRESEK syndrome |
85285 | X-linked intellectual disability, Schimke type |
85286 | X-linked intellectual disability, Shashi type |
85287 | X-linked intellectual disability, Siderius type |
85288 | X-linked intellectual disability, Stocco Dos Santos type |
85290 | X-linked intellectual disability, Wilson type |
85292 | X-linked spinocerebellar ataxia type 4 |
85293 | X-linked intellectual disability, Cabezas type |
85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome |
85295 | HSD10 disease, atypical type |
85297 | X-linked spinocerebellar ataxia type 3 |
85317 | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome |
85319 | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome |
85320 | X-linked intellectual disability-macrocephaly-macroorchidism syndrome |
85321 | Deafness-intellectual disability syndrome, Martin-Probst type |
85322 | X-linked intellectual disability, Pai type |
85323 | X-linked intellectual disability, Seemanova type |
85324 | X-linked intellectual disability, Shrimpton type |
85325 | X-linked intellectual disability, Stevenson type |
85326 | X-linked intellectual disability, Stoll type |
85327 | X-linked intellectual disability-acromegaly-hyperactivity syndrome |
85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome |
85332 | X-linked intellectual disability-retinitis pigmentosa syndrome |
85334 | X-linked neurodegenerative syndrome, Bertini type |
85335 | Fried syndrome |
85336 | X-linked neurodegenerative syndrome, Hamel type |
85338 | X-linked intellectual disability-ataxia-apraxia syndrome |
85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
85410 | Oligoarticular juvenile idiopathic arthritis |
85414 | Systemic-onset juvenile idiopathic arthritis |
85435 | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis |
85436 | Psoriasis-related juvenile idiopathic arthritis |
85438 | Enthesitis-related juvenile idiopathic arthritis |
85442 | Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
85443 | AL amyloidosis |
85445 | AA amyloidosis |
85446 | Wild type ABeta2M amyloidosis |
85447 | ATTRV30M amyloidosis |
85448 | AGel amyloidosis |
85450 | Hereditary amyloidosis with primary renal involvement |
85451 | ATTRV122I amyloidosis |
85453 | X-linked reticulate pigmentary disorder |
85458 | Cerebral Amyloid Angiopathy |
86309 | DPAGT1-CDG |
86788 | X-linked severe congenital neutropenia |
86789 | Isolated patella aplasia/hypoplasia |
86797 | Atypical lichen myxedematosus |
86812 | POMT1-related limb-girdle muscular dystrophy R11 |
86813 | Helicoid peripapillary chorioretinal degeneration |
86814 | Benign adult familial myoclonic epilepsy |
86815 | Aplasia of lacrimal and salivary glands |
86816 | Congenital analbuminemia |
86817 | Hemolytic anemia due to adenylate kinase deficiency |
86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
86819 | Atrichia with papular lesions |
86820 | Familial avascular necrosis of femoral head |
86821 | Lissencephaly type 3-familial fetal akinesia sequence syndrome |
86822 | Lissencephaly type 3-metacarpal bone dysplasia syndrome |
86829 | Chronic neutrophilic leukemia |
86830 | Chronic myeloproliferative disease, unclassifiable |
86834 | Juvenile myelomonocytic leukemia |
86839 | Myelodysplastic neoplasm with increased blasts |
86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
86843 | Acute panmyelosis with myelofibrosis |
86845 | Acute myeloid leukaemia with myelodysplasia-related features |
86849 | Acute basophilic leukemia |
86850 | Myeloid sarcoma |
86852 | B-cell prolymphocytic leukemia |
86854 | Splenic marginal zone lymphoma |
86855 | Plasmacytoma |
86861 | Non-amyloid monoclonal immunoglobulin deposition disease |
86864 | Heavy chain disease |
86867 | Nodal marginal zone B-cell lymphoma |
86869 | Lymphomatoid granulomatosis |
86870 | Blastic plasmacytoid dendritic cell neoplasm |
86871 | T-cell prolymphocytic leukemia |
86872 | T-cell large granular lymphocyte leukemia |
86873 | Aggressive NK-cell leukemia |
86875 | Adult T-cell leukemia/lymphoma |
86879 | Extranodal nasal NK/T cell lymphoma |
86880 | Enteropathy-associated T-cell lymphoma |
86882 | Hepatosplenic T-cell lymphoma |
86884 | Subcutaneous panniculitis-like T-cell lymphoma |
86885 | Primary cutaneous peripheral T-cell lymphoma not otherwise specified |
86886 | Angioimmunoblastic T-cell lymphoma |
86893 | Nodular lymphocyte predominant Hodgkin lymphoma |
86896 | Histiocytic sarcoma |
86897 | Langerhans cell sarcoma |
86900 | Interdigitating dendritic cell sarcoma |
86902 | Follicular dendritic cell sarcoma |
86903 | Dendritic cell sarcoma not otherwise specified |
86904 | Methotrexate-associated lymphoproliferative disorders |
86906 | Hypothalamic hamartomas with gelastic seizures |
86908 | Idiopathic hemiconvulsion-hemiplegia syndrome |
86909 | Myoclonic epilepsy of infancy |
86911 | Epilepsy with myoclonic absences |
86913 | Myoclonic epilepsy in non-progressive encephalopathies |
86914 | Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome |
86915 | Lymphedema-atrial septal defects-facial changes syndrome |
86918 | Diffuse palmoplantar keratoderma-acrocyanosis syndrome |
86919 | Keratosis palmaris et plantaris-clinodactyly syndrome |
86920 | Dermatopathia pigmentosa reticularis |
86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type |
87503 | Mal de Meleda |
87876 | Sialidosis type 2 |
87884 | Non-syndromic genetic deafness |
88616 | Autosomal recessive non-syndromic intellectual disability |
88618 | S-adenosylhomocysteine hydrolase deficiency |
88619 | Familial acute necrotizing encephalopathy |
88620 | Isolated congenital anosmia |
88621 | Ichthyosis-prematurity syndrome |
88628 | Posterior column ataxia-retinitis pigmentosa syndrome |
88629 | Tritanopia |
88630 | Terminal osseous dysplasia-pigmentary defects syndrome |
88633 | Superior limbic keratoconjunctivitis |
88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates |
88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
88642 | Congenital insensitivity to pain-anosmia-neuropathic arthropathy |
88643 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
88644 | Autosomal recessive ataxia, Beauce type |
88659 | Autosomal dominant progressive nephropathy with hypertension |
88660 | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor |
88661 | Amelogenesis imperfecta |
88917 | X-linked Alport syndrome |
88918 | Autosomal dominant Alport syndrome |
88919 | Autosomal recessive Alport syndrome |
88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
88938 | Pseudohypoaldosteronism type 2A |
88939 | Pseudohypoaldosteronism type 2B |
88940 | Pseudohypoaldosteronism type 2C |
88949 | MUC1-related autosomal dominant tubulointerstitial kidney disease |
88950 | UMOD-related autosomal dominant tubulointerstitial kidney disease |
89838 | Autosomal recessive generalized epidermolysis bullosa simplex |
89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
89843 | Dystrophic epidermolysis bullosa pruriginosa |
89844 | Lissencephaly syndrome, Norman-Roberts type |
89936 | X-linked hypophosphatemia |
89937 | Autosomal dominant hypophosphatemic rickets |
89938 | Bartter syndrome type 4 |
90000 | Erythema elevatum diutinum |
90001 | X-linked cone dysfunction syndrome with myopia |
90002 | Undifferentiated connective tissue syndrome |
90003 | Inflammatory pseudotumor of the liver |
90020 | Parkinson-dementia complex of Guam |
90021 | Radiation myelitis |
90023 | Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency |
90024 | Deafness with labyrinthine aplasia, microtia, and microdontia |
90026 | Primary erythromelalgia |
90030 | Hemolytic anemia due to glutathione reductase deficiency |
90031 | Non-spherocytic hemolytic anemia due to hexokinase deficiency |
90033 | Autoimmune hemolytic anemia, warm type |
90035 | Paroxysmal cold hemoglobinuria |
90036 | Mixed-type autoimmune hemolytic anemia |
90037 | Drug-induced autoimmune hemolytic anemia |
90038 | Shiga toxin-associated hemolytic uremic syndrome |
90039 | Hemoglobin D disease |
90041 | Gaisböck syndrome |
90042 | Primary familial polycythemia |
90044 | Familial pseudohyperkalemia |
90045 | Hereditary folate malabsorption |
90050 | Retinopathy of prematurity |
90051 | Sepsis in premature infants |
90052 | Recurrent hepatitis C virus induced liver disease in liver transplant recipients |
90053 | Complications after hematopoietic stem cell transplantation |
90056 | Moderate and severe traumatic brain injury |
90058 | Spinal cord injury |
90059 | Sudden sensorineural hearing loss |
90060 | Diffuse alveolar hemorrhage |
90062 | Acute liver failure |
90064 | Acute peripheral arterial occlusion |
90065 | Acquired aneurysmal subarachnoid hemorrhage |
90066 | Pneumonia caused by Pseudomonas aeruginosa infection |
90068 | Cocaine intoxication |
90069 | Systemic monochloroacetate poisoning |
90073 | Hepatitis B reinfection following liver transplantation |
90076 | Partial deep dermal and full thickness burns |
90078 | Invasive infections due to vancomycin-resistant enterococci |
90080 | Scarring in glaucoma filtration surgical procedures |
90081 | AIDS wasting syndrome |
90103 | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome |
90117 | Hereditary motor and sensory neuropathy, Okinawa type |
90118 | Severe early-onset axonal neuropathy due to MFN2 deficiency |
90119 | Hereditary motor and sensory neuropathy with acrodystrophy |
90120 | Hereditary motor and sensory neuropathy type 6 |
90153 | Mandibuloacral dysplasia with type A lipodystrophy |
90154 | Mandibuloacral dysplasia with type B lipodystrophy |
90156 | Centrifugal lipodystrophy |
90157 | Drug-induced localized lipodystrophy |
90158 | Idiopathic localized lipodystrophy |
90159 | Panniculitis-induced localized lipodystrophy |
90160 | Pressure-induced localized lipoatrophy |
90186 | Meige disease |
90280 | Chilblain lupus |
90281 | Discoid lupus erythematosus |
90282 | Hypertrophic or verrucous lupus erythematosus |
90283 | Lupus erythematosus tumidus |
90285 | Lupus erythematosus panniculitis |
90289 | Localized scleroderma |
90291 | Systemic sclerosis |
90301 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
90307 | Parkes Weber syndrome |
90308 | Klippel-Trénaunay syndrome |
90321 | Cockayne syndrome type 1 |
90322 | Cockayne syndrome type 2 |
90324 | Cockayne syndrome type 3 |
90340 | Blau syndrome |
90342 | Xeroderma pigmentosum variant |
90348 | Autosomal dominant cutis laxa |
90349 | Autosomal recessive cutis laxa type 1 |
90354 | Brittle cornea syndrome |
90362 | Primary intestinal lymphangiectasia |
90363 | Secondary intestinal lymphangiectasia |
90368 | Hypotrichosis simplex of the scalp |
90389 | Telangiectasia macularis eruptiva perstans |
90390 | Anonychia-onychodystrophy syndrome |
90393 | Nodular lichen myxedematosus |
90394 | Discrete papular lichen myxedematosus |
90395 | Papular mucinosis of infancy |
90396 | Acral persistent papular mucinosis |
90397 | Self-healing papular mucinosis |
90398 | Localized lichen myxedematosus with mixed features of different subtypes |
90399 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |
90400 | Scleromyxedema without monoclonal gammopathy |
90625 | Rare X-linked non-syndromic sensorineural deafness type DFN |
90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |
90641 | Rare mitochondrial non-syndromic sensorineural deafness |
90646 | Deafness-hypogonadism syndrome |
90647 | Jervell and Lange-Nielsen syndrome |
90650 | Otopalatodigital syndrome type 1 |
90652 | Otopalatodigital syndrome type 2 |
90653 | Stickler syndrome type 1 |
90654 | Stickler syndrome type 2 |
90658 | Charcot-Marie-Tooth disease type 1E |
90673 | Hypothyroidism due to TSH receptor mutations |
90674 | Isolated thyroid-stimulating hormone deficiency |
90695 | Non-acquired panhypopituitarism |
90790 | Congenital lipoid adrenal hyperplasia due to STAR deficency |
90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
90794 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
90796 | 46,XY difference of sex development due to isolated 17,20-lyase deficiency |
90797 | Partial androgen insensitivity syndrome |
91127 | Adenovirus infection in immunocompromised patients |
91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome |
91131 | DK1-CDG |
91132 | Ichthyosis-hypotrichosis syndrome |
91135 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
91136 | Acquired monoclonal Ig light chain-associated Fanconi syndrome |
91138 | Cryoglobulinemic vasculitis |
91139 | Simple cryoglobulinemia |
91140 | Unspecified juvenile idiopathic arthritis |
91347 | TSH-secreting pituitary adenoma |
91348 | Functioning gonadotropic adenoma |
91349 | Non-functioning pituitary adenoma |
91350 | Pituitary deficiency due to Rathke cleft cysts |
91351 | Pituitary dermoid and epidermoid cysts |
91352 | Germinoma of the central nervous system |
91354 | Pituitary deficiency due to empty sella turcica syndrome |
91355 | Sheehan syndrome |
91358 | Congenital esophageal diverticulum |
91359 | Chronic pneumonitis of infancy |
91364 | Non-specific interstitial pneumonia |
91387 | Familial thoracic aortic aneurysm and aortic dissection |
91396 | Isolated cryptophthalmia |
91397 | Isolated ankyloblepharon filiforme adnatum |
91411 | Congenital ptosis |
91412 | Marcus-Gunn syndrome |
91413 | Congenital Horner syndrome |
91414 | Pilomatrixoma |
91416 | Isolated congenital alacrima |
91481 | Ring dermoid of cornea |
91483 | Rieger anomaly |
91489 | Isolated congenital megalocornea |
91490 | Isolated congenital sclerocornea |
91491 | Congenital ectropion uveae |
91492 | Early onset non-syndromic cataract |
91494 | Macular coloboma-cleft palate-hallux valgus syndrome |
91495 | Persistent hyperplastic primary vitreous |
91496 | Snowflake vitreoretinal degeneration |
91498 | Familial congenital palsy of trochlear nerve |
91500 | Tubulointerstitial nephritis and uveitis syndrome |
91546 | Lyme disease |
91547 | Relapsing fever |
92050 | Congenital tufting enteropathy |
93100 | Renal agenesis, unilateral |
93101 | Renal hypoplasia |
93108 | Renal dysplasia |
93109 | Congenital megacalycosis |
93110 | Posterior urethral valve |
93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease |
93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
93126 | Pauci-immune glomerulonephritis |
93160 | Hypocalcemic vitamin D-resistant rickets |
93164 | Transient pseudohypoaldosteronism |
93172 | Renal dysplasia, unilateral |
93173 | Renal dysplasia, bilateral |
93176 | Unilateral congenital megacalycosis |
93177 | Congenital bilateral megacalycosis |
93256 | Fragile X-associated tremor/ataxia syndrome |
93258 | Pfeiffer syndrome type 1 |
93259 | Pfeiffer syndrome type 2 |
93260 | Pfeiffer syndrome type 3 |
93262 | Crouzon syndrome-acanthosis nigricans syndrome |
93267 | Cloverleaf skull-multiple congenital anomalies syndrome |
93268 | Short rib-polydactyly syndrome, Beemer-Langer type |
93269 | Short rib-polydactyly syndrome, Majewski type |
93270 | Short rib-polydactyly syndrome, Saldino-Noonan type |
93271 | Short rib-polydactyly syndrome, Verma-Naumoff type |
93274 | Thanatophoric dysplasia type 2 |
93276 | Polyostotic fibrous dysplasia |
93277 | Monostotic fibrous dysplasia |
93279 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis |
93282 | Spondyloepimetaphyseal dysplasia, PAPSS2 type |
93283 | Spondyloepiphyseal dysplasia, Kimberley type |
93284 | Spondyloepiphyseal dysplasia tarda |
93292 | Adenoma of pancreas |
93293 | Okihiro syndrome |
93296 | Achondrogenesis type 2 |
93297 | Hypochondrogenesis |
93298 | Achondrogenesis type 1B |
93299 | Achondrogenesis type 1A |
93302 | Brachyolmia, Maroteaux type |
93304 | Autosomal dominant brachyolmia |
93307 | Multiple epiphyseal dysplasia type 4 |
93308 | Multiple epiphyseal dysplasia type 1 |
93311 | Multiple epiphyseal dysplasia type 5 |
93314 | Spondylometaphyseal dysplasia, Kozlowski type |
93315 | Spondylometaphyseal dysplasia, 'corner fracture' type |
93316 | Spondylometaphyseal dysplasia, Schmidt type |
93317 | Spondylometaphyseal dysplasia, Sedaghatian type |
93320 | Isolated ulnar hemimelia |
93321 | Isolated radial hemimelia |
93322 | Isolated tibial hemimelia |
93323 | Isolated fibular hemimelia |
93324 | Autosomal recessive Kenny-Caffey syndrome |
93325 | Autosomal dominant Kenny-Caffey syndrome |
93328 | Autosomal dominant omodysplasia |
93329 | Autosomal recessive omodysplasia |
93333 | Pelviscapular dysplasia |
93334 | Postaxial polydactyly type A |
93335 | Postaxial polydactyly type B |
93336 | Polydactyly of a triphalangeal thumb |
93337 | Polydactyly of an index finger |
93338 | Polysyndactyly |
93339 | Polydactyly of a biphalangeal thumb and/or hallux |
93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type |
93347 | Anauxetic dysplasia |
93349 | X-linked spondyloepimetaphyseal dysplasia |
93351 | Spondyloepimetaphyseal dysplasia, Irapa type |
93352 | Spondyloepimetaphyseal dysplasia, Shohat type |
93356 | Spondyloepimetaphyseal dysplasia, Missouri type |
93357 | SPONASTRIME dysplasia |
93358 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
93360 | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type |
93372 | Familial hypocalciuric hypercalcemia type 1 |
93382 | Brachydactyly type A6 |
93383 | Brachydactyly type B |
93384 | Brachydactyly type C |
93387 | Brachydactyly type E |
93388 | Brachydactyly type A1 |
93394 | Brachydactyly type A4 |
93396 | Brachydactyly type A2 |
93397 | Brachydactyly type A7 |
93398 | Genochondromatosis type 2 |
93399 | Juvenile sialidosis type 2 |
93400 | Congenital sialidosis type 2 |
93402 | Syndactyly type 1 |
93403 | Syndactyly type 2 |
93404 | Syndactyly type 3 |
93405 | Syndactyly type 4 |
93406 | Syndactyly type 5 |
93409 | Brachydactyly-syndactyly, Zhao type |
93473 | Hurler syndrome |
93474 | Scheie syndrome |
93476 | Hurler-Scheie syndrome |
93552 | Pediatric systemic lupus erythematosus |
93554 | Mixed cryoglobulinemia type II |
93555 | Mixed cryoglobulinemia type III |
93556 | Heavy chain deposition disease |
93557 | Light and heavy chain deposition disease |
93558 | Light chain deposition disease |
93560 | AApoAI amyloidosis |
93561 | ALys amyloidosis |
93562 | AFib amyloidosis |
93568 | Juvenile polymyositis |
93571 | Dense deposit disease |
93581 | Atypical hemolytic uremic syndrome with anti-factor H antibodies |
93583 | Congenital thrombotic thrombocytopenic purpura |
93585 | Immune-mediated thrombotic thrombocytopenic purpura |
93589 | Late-onset nephronophthisis |
93591 | Infantile nephronophthisis |
93592 | Juvenile nephronophthisis |
93598 | Primary hyperoxaluria type 1 |
93599 | Primary hyperoxaluria type 2 |
93600 | Primary hyperoxaluria type 3 |
93601 | Xanthinuria type I |
93602 | Xanthinuria type II |
93605 | Bartter syndrome type 3 |
93606 | Nephrogenic syndrome of inappropriate antidiuresis |
93607 | Autosomal recessive proximal renal tubular acidosis |
93608 | Autosomal dominant distal renal tubular acidosis |
93610 | Distal renal tubular acidosis with anemia |
93612 | Cystinuria type A |
93613 | Cystinuria type B |
93616 | Hemoglobin H disease |
93622 | Dent disease type 1 |
93623 | Dent disease type 2 |
93672 | Juvenile dermatomyositis |
93685 | Unicentric Castleman disease |
93921 | Full schwannomatosis |
93924 | Lobar holoprosencephaly |
93925 | Alobar holoprosencephaly |
93926 | Midline interhemispheric variant of holoprosencephaly |
93928 | Isolated epispadias |
93929 | Cloacal exstrophy |
93930 | Bladder exstrophy |
93932 | FG syndrome type 1 |
93938 | Laryngotracheoesophageal cleft type 1 |
93939 | Laryngotracheoesophageal cleft type 2 |
93940 | Laryngotracheoesophageal cleft type 3 |
93941 | Laryngotracheoesophageal cleft type 4 |
93945 | X-linked intellectual disability, Porteous type |
93946 | Hamel cerebro-palato-cardiac syndrome |
93947 | X-linked intellectual disability, Golabi-Ito-Hall type |
93950 | X-linked intellectual disability, Sutherland-Haan type |
93952 | X-linked intellectual disability, Hedera type |
93953 | Familial thyroglossal duct cyst |
93958 | Oromandibular dystonia |
93964 | Blepharospasm-oromandibular dystonia syndrome |
93969 | Open spinal dysraphism with a myelomeningocele |
93976 | Anotia |
94056 | Isolated humero-ulnar synostosis |
94058 | Neovascular glaucoma |
94059 | Uremic pruritus |
94063 | 12q14 microdeletion syndrome |
94064 | Deafness-infertility syndrome |
94065 | 15q24 microdeletion syndrome |
94066 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |
94068 | Spondyloepiphyseal dysplasia congenita |
94080 | Non-functioning paraganglioma |
94083 | Partington syndrome |
94086 | Blue diaper syndrome |
94087 | Cytophagic histiocytic panniculitis |
94088 | Hereditary renal hypouricemia |
94089 | Pseudohypoparathyroidism type 1B |
94090 | Pseudohypoparathyroidism type 2 |
94091 | Mills syndrome |
94093 | Neuroleptic malignant syndrome |
94122 | Cerebellar ataxia, Cayman type |
94124 | Spinocerebellar ataxia with axonal neuropathy type 1 |
94125 | Recessive mitochondrial ataxia syndrome |
94147 | Spinocerebellar ataxia type 7 |
94150 | Anonychia congenita totalis |
95159 | Hepatoerythropoietic porphyria |
95232 | Lissencephaly due to LIS1 mutation |
95409 | Acute adrenal insufficiency |
95427 | Secondary short bowel syndrome |
95428 | COG8-CDG |
95429 | Angioma serpiginosum |
95430 | Congenital tracheomalacia |
95431 | Twin to twin transfusion syndrome |
95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |
95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome |
95443 | Mesocardia |
95448 | Congenital aortic valve atresia |
95455 | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum |
95457 | Tricuspid valve agenesis |
95459 | Congenital tricuspid stenosis |
95461 | Straddling or overriding tricuspid valve |
95462 | Accessory tricuspid valve tissue |
95465 | Cleft mitral valve |
95474 | Double-orifice mitral valve |
95486 | Premature closure of the arterial duct |
95491 | Congenital coronary artery aneurysm |
95494 | Combined pituitary hormone deficiencies, genetic forms |
95496 | Pituitary stalk interruption syndrome |
95507 | Congenital anomaly of hepatic vein |
95512 | Adenohypophysitis |
95513 | Panhypophysitis |
95613 | Pituitary apoplexy |
95619 | Post-traumatic pituitary deficiency |
95626 | Acquired arginine vasopressin deficiency |
95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
95700 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
95702 | X-linked adrenal hypoplasia congenita |
95706 | Non-syndromic posterior hypospadias |
95707 | Idiopathic isolated micropenis |
95712 | Thyroid ectopia |
95713 | Athyreosis |
95715 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies |
95716 | Familial thyroid dyshormonogenesis |
95717 | Idiopathic congenital hypothyroidism |
95719 | Thyroid hemiagenesis |
95720 | Thyroid hypoplasia |
95854 | Levocardia |
96055 | Tetrasomy 21 |
96059 | Mosaic trisomy 4 |
96060 | Mosaic trisomy 5 |
96061 | Mosaic trisomy 8 |
96063 | Mosaic trisomy 10 |
96068 | Mosaic trisomy 22 |
96069 | Distal duplication 1p36 |
96070 | Distal duplication 2p |
96071 | Distal duplication 3p |
96072 | 4p16.3 microduplication syndrome |
96074 | Distal duplication 7p |
96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication |
96078 | 16p13.3 microduplication syndrome |
96092 | 8p inverted duplication/deletion syndrome |
96094 | Distal duplication 2q |
96095 | 3q26 microduplication syndrome |
96096 | Distal duplication 4q |
96097 | Distal duplication 5q |
96098 | Distal duplication 6q |
96100 | Distal duplication 8q |
96101 | Distal duplication 9q |
96102 | Distal duplication 10q |
96103 | Distal duplication 11q |
96105 | Distal duplication 13q |
96106 | Distal duplication 16q |
96107 | Distal duplication 20q |
96109 | Distal duplication 22q |
96112 | Non-distal duplication 9q |
96121 | 7q11.23 microduplication syndrome |
96123 | Monosomy 22 |
96125 | Distal deletion 6p |
96126 | Distal deletion 7p |
96129 | Distal deletion 19p |
96145 | Distal deletion 4q |
96147 | Kleefstra syndrome due to 9q34 microdeletion |
96148 | Distal deletion 10q |
96149 | Distal deletion 12q |
96150 | Distal deletion 14q |
96160 | Non-distal deletion 12q |
96167 | Recombinant 8 syndrome |
96168 | Monosomy 13q34 |
96169 | Koolen-De Vries syndrome |
96170 | Emanuel syndrome |
96171 | Ring chromosome 2 syndrome |
96172 | Ring chromosome 3 syndrome |
96173 | Ring chromosome 9 syndrome |
96175 | Ring chromosome 11 syndrome |
96176 | Ring chromosome 13 syndrome |
96177 | Ring chromosome 15 syndrome |
96178 | Ring chromosome 16 syndrome |
96179 | Maternal uniparental disomy of chromosome 2 |
96180 | Maternal uniparental disomy of chromosome 4 |
96181 | Maternal uniparental disomy of chromosome 6 |
96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |
96183 | Maternal uniparental disomy of chromosome 9 |
96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 |
96185 | Maternal uniparental disomy of chromosome 16 |
96186 | Maternal uniparental disomy of chromosome 20 |
96187 | Maternal uniparental disomy of chromosome 21 |
96188 | Maternal uniparental disomy of chromosome 22 |
96190 | Paternal uniparental disomy of chromosome 5 |
96191 | Paternal uniparental disomy of chromosome 6 |
96192 | Paternal uniparental disomy of chromosome 7 |
96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |
96194 | Paternal uniparental disomy of chromosome 20 |
96195 | Paternal uniparental disomy of chromosome 21 |
96201 | X small rings |
96253 | Cushing disease |
96263 | 48,XXXY syndrome |
96264 | 49,XXXXY syndrome |
96265 | Leydig cell hypoplasia due to complete LH resistance |
96266 | Leydig cell hypoplasia due to partial LH resistance |
96269 | Isolated partial vaginal agenesis |
96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 |
97214 | Eisenmenger syndrome |
97229 | Riboflavin transporter deficiency |
97230 | Solar urticaria |
97232 | Fingerprint body myopathy |
97234 | Glycogen storage disease due to phosphoglycerate mutase deficiency |
97238 | Rippling muscle disease |
97239 | Reducing body myopathy |
97240 | Zebra body myopathy |
97244 | Rigid spine syndrome |
97249 | Pontocerebellar hypoplasia type 3 |
97252 | Mega-cisterna magna |
97261 | GRFoma |
97278 | PPoma |
97279 | Insulinoma |
97280 | Glucagonoma |
97282 | VIPoma |
97283 | Somatostatinoma |
97285 | Thyroid lymphoma |
97286 | Carney-Stratakis syndrome |
97287 | Bronchial neuroendocrine tumor |
97289 | Thymic neuroendocrine tumor |
97290 | Familial papillary thyroid carcinoma with renal papillary neoplasia |
97292 | Cardiogenic shock |
97297 | Bohring-Opitz syndrome |
97330 | Thoracic outlet syndrome |
97332 | Kienbock disease |
97335 | Osgood-Schlatter disease |
97336 | Panner disease |
97337 | Sinding-Larsen-Johansson disease |
97338 | Melanoma of soft tissue |
97339 | Dural sinus malformation |
97340 | Hunter-McAlpine syndrome |
97341 | Persistent placoid maculopathy |
97345 | ABri amyloidosis |
97346 | ADan amyloidosis |
97349 | Postencephalitic parkinsonism |
97352 | Pellagra |
97353 | Dementia pugilistica |
97355 | Caribbean parkinsonism |
97360 | Robinow syndrome |
97361 | Renal hypoplasia, unilateral |
97362 | Renal hypoplasia, bilateral |
97363 | Unilateral multicystic dysplastic kidney |
97364 | Bilateral multicystic dysplastic kidney |
97366 | Multiloculated renal cyst |
97367 | Renal tubular dysgenesis due to twin-twin transfusion |
97368 | Drug-related renal tubular dysgenesis |
97369 | Renal tubular dysgenesis of genetic origin |
97548 | Right sided atrial isomerism |
97560 | Primary membranous glomerulonephritis |
97563 | Pauci-immune glomerulonephritis with ANCA |
97564 | Pauci-immune glomerulonephritis without ANCA |
97566 | Non-amyloid fibrillary glomerulopathy |
97567 | Immunotactoid glomerulopathy |
97598 | Congenital renal artery stenosis |
97678 | Maternal uniparental disomy of chromosome 13 |
97685 | 17q11 microdeletion syndrome |
98267 | Genetic non-syndromic obesity |
98434 | Hereditary combined deficiency of vitamin K-dependent clotting factors |
98606 | Syndromic orbital border hypoplasia |
98619 | Rare isolated myopia |
98673 | Autosomal dominant optic atrophy, classic form |
98676 | Autosomal recessive isolated optic atrophy |
98686 | Congenital trochlear nerve palsy |
98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |
98755 | Spinocerebellar ataxia type 1 |
98756 | Spinocerebellar ataxia type 2 |
98757 | Spinocerebellar ataxia type 3 |
98758 | Spinocerebellar ataxia type 6 |
98759 | Spinocerebellar ataxia type 17 |
98760 | Spinocerebellar ataxia type 8 |
98761 | Spinocerebellar ataxia type 10 |
98762 | Spinocerebellar ataxia type 12 |
98763 | Spinocerebellar ataxia type 14 |
98764 | Spinocerebellar ataxia type 27 |
98765 | Spinocerebellar ataxia type 4 |
98766 | Spinocerebellar ataxia type 5 |
98767 | Spinocerebellar ataxia type 11 |
98768 | Spinocerebellar ataxia type 13 |
98769 | Spinocerebellar ataxia type 15/16 |
98771 | Spinocerebellar ataxia type 18 |
98772 | Spinocerebellar ataxia type 19/22 |
98773 | Spinocerebellar ataxia type 21 |
98784 | Autosomal dominant nocturnal frontal lobe epilepsy |
98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |
98793 | Prader-Willi syndrome due to paternal 15q11q13 deletion |
98794 | Angelman syndrome due to maternal 15q11q13 deletion |
98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 |
98797 | Isochromosomy Yp |
98798 | Isochromosomy Yq |
98805 | Primary dystonia, DYT4 type |
98806 | Primary dystonia, DYT6 type |
98807 | Primary dystonia, DYT13 type |
98808 | Autosomal dominant dopa-responsive dystonia |
98809 | Paroxysmal kinesigenic dyskinesia |
98810 | Paroxysmal non-kinesigenic dyskinesia |
98811 | Paroxysmal exertion-induced dyskinesia |
98813 | Hypohidrotic ectodermal dysplasia with immunodeficiency |
98815 | Benign childhood occipital epilepsy, Panayiotopoulos type |
98816 | Benign childhood occipital epilepsy, Gastaut type |
98818 | Landau-Kleffner syndrome |
98819 | Familial temporal lobe epilepsy |
98820 | Familial focal epilepsy with variable foci |
98823 | Chronic myelomonocytic leukemia |
98824 | Atypical chronic myeloid leukemia |
98825 | Unclassified myelodysplastic/myeloproliferative disease |
98826 | Myelodysplastic neoplasm with low blasts |
98827 | Unclassified myelodysplastic syndrome |
98829 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
98831 | Acute myeloid leukemia with 11q23 abnormalities |
98832 | Acute myeloid leukemia with minimal differentiation |
98833 | Acute myeloblastic leukemia without maturation |
98834 | Acute myeloblastic leukemia with maturation |
98835 | Acute undifferentiated leukemia |
98838 | Primary mediastinal large B-cell lymphoma |
98839 | Intravascular large B-cell lymphoma |
98841 | Anaplastic large cell lymphoma |
98842 | Lymphomatoid papulosis |
98843 | Classic Hodgkin lymphoma, nodular sclerosis type |
98844 | Classic Hodgkin lymphoma, mixed cellularity type |
98845 | Classic Hodgkin lymphoma, lymphocyte-rich type |
98846 | Classic Hodgkin lymphoma, lymphocyte-depleted type |
98848 | Indolent systemic mastocytosis |
98849 | Systemic mastocytosis with associated hematologic neoplasm |
98850 | Aggressive systemic mastocytosis |
98851 | Mast cell leukemia |
98852 | Desquamative interstitial pneumonia |
98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy |
98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy |
98856 | Charcot-Marie-Tooth disease type 2B1 |
98863 | X-linked Emery-Dreifuss muscular dystrophy |
98868 | Southeast Asian ovalocytosis |
98869 | Congenital dyserythropoietic anemia type I |
98870 | Congenital dyserythropoietic anemia type III |
98871 | Transient erythroblastopenia of childhood |
98872 | Primary acquired pure red cell aplasia |
98873 | Congenital dyserythropoietic anemia type II |
98878 | Hemophilia A |
98879 | Hemophilia B |
98880 | Familial afibrinogenemia |
98881 | Familial dysfibrinogenemia |
98885 | Bleeding diathesis due to glycoprotein VI deficiency |
98886 | Bleeding diathesis due to integrin alpha2-beta1 deficiency |
98889 | Bilateral perisylvian polymicrogyria |
98890 | Early-onset X-linked optic atrophy |
98892 | Periventricular nodular heterotopia |
98893 | Congenital muscular dystrophy type 1B |
98895 | Becker muscular dystrophy |
98896 | Duchenne muscular dystrophy |
98897 | Oculopharyngodistal myopathy |
98902 | Amish nemaline myopathy |
98904 | Congenital myopathy with excess of thin filaments |
98905 | Congenital multicore myopathy with external ophthalmoplegia |
98907 | Neutral lipid storage disease with ichthyosis |
98908 | Neutral lipid storage disease with myopathy |
98909 | Desminopathy |
98911 | Distal myotilinopathy |
98912 | Late-onset distal myopathy, Markesbery-Griggs type |
98913 | Postsynaptic congenital myasthenic syndromes |
98914 | Presynaptic congenital myasthenic syndromes |
98915 | Synaptic congenital myasthenic syndromes |
98916 | Acute inflammatory demyelinating polyradiculoneuropathy |
98917 | Acute motor and sensory axonal neuropathy |
98918 | Acute motor axonal neuropathy |
98919 | Miller Fisher syndrome |
98920 | Spinal muscular atrophy with respiratory distress type 1 |
98922 | Blake pouch cyst |
98933 | Multiple system atrophy, parkinsonian type |
98934 | Huntington disease-like 2 |
98938 | Colobomatous microphthalmia |
98942 | Coloboma of choroid and retina |
98943 | Coloboma of eye lens |
98944 | Coloboma of iris |
98945 | Coloboma of macula |
98946 | Coloboma of eyelid |
98947 | Coloboma of optic disc |
98948 | Congenital symblepharon |
98949 | Complete cryptophthalmia |
98950 | Partial cryptophthalmia |
98951 | Inverse Marcus-Gunn phenomenon |
98954 | Meesmann corneal dystrophy |
98955 | Lisch epithelial corneal dystrophy |
98956 | Epithelial basement membrane dystrophy |
98957 | Gelatinous drop-like corneal dystrophy |
98958 | Climatic droplet keratopathy |
98959 | Subepithelial mucinous corneal dystrophy |
98960 | Thiel-Behnke corneal dystrophy |
98961 | Reis-Bücklers corneal dystrophy |
98962 | Granular corneal dystrophy type I |
98963 | Granular corneal dystrophy type II |
98964 | Lattice corneal dystrophy type I |
98967 | Schnyder corneal dystrophy |
98969 | Macular corneal dystrophy |
98970 | Fleck corneal dystrophy |
98971 | Posterior amorphous corneal dystrophy |
98972 | Central cloudy dystrophy of François |
98973 | Posterior polymorphous corneal dystrophy |
98974 | Fuchs endothelial corneal dystrophy |
98976 | Congenital glaucoma |
98977 | Juvenile glaucoma |
98978 | Axenfeld anomaly |
98979 | Chandler syndrome |
98980 | Cogan-Reese syndrome |
98981 | Essential iris atrophy |
98984 | Pulverulent cataract |
98985 | Early-onset sutural cataract |
98988 | Early-onset anterior polar cataract |
98989 | Cerulean cataract |
98990 | Coralliform cataract |
98991 | Early-onset nuclear cataract |
98992 | Early-onset partial cataract |
98993 | Early-onset posterior polar cataract |
98994 | Total early-onset cataract |
98995 | Early-onset zonular cataract |
99000 | Adult-onset foveomacular vitelliform dystrophy |
99001 | Butterfly-shaped pigment dystrophy |
99002 | Reticular dystrophy of the retinal pigment epithelium |
99003 | Multifocal pattern dystrophy simulating fundus flavimaculatus |
99004 | Fundus pulverulentus |
99013 | Spastic paraplegia type 7 |
99014 | X-linked Charcot-Marie-Tooth disease type 5 |
99015 | Spastic paraplegia type 2 |
99027 | Adult-onset autosomal dominant leukodystrophy |
99042 | Congenitally uncorrected transposition of the great arteries with coarctation |
99043 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |
99045 | Double outlet right ventricle with subpulmonary ventricular septal defect |
99046 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect |
99048 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |
99049 | Pulmonary artery coming from patent ductus arteriosus |
99050 | Abnormal origin of right or left pulmonary artery from the aorta |
99051 | Discrete fixed membranous subaortic stenosis |
99052 | Discrete fibromuscular subaortic stenosis |
99053 | Tunnel subaortic stenosis |
99054 | Valvular pulmonary stenosis |
99055 | Congenital anomaly of the tricuspid valve chordae |
99056 | Parachute tricuspid valve |
99057 | Congenital mitral stenosis |
99058 | Hypoplasia of the mitral valve annulus |
99059 | Congenital supravalvular mitral ring |
99060 | Congenital unguarded mitral orifice |
99061 | Accessory mitral valve tissue |
99062 | Mitral valve agenesis |
99063 | Shone complex |
99064 | Straddling and/or overriding mitral valve |
99067 | Complete atrioventricular septal defect with ventricular hypoplasia |
99068 | Complete atrioventricular septal defect-tetralogy of Fallot |
99070 | Aorto-right ventricular tunnel |
99071 | Aorto-left ventricular tunnel |
99072 | Congenital patent ductus arteriosus aneurysm |
99075 | Encircling double aortic arch |
99076 | Persistent fifth aortic arch |
99077 | Kommerell diverticulum |
99078 | Neuhauser anomaly |
99079 | Cervical aortic arch |
99081 | Right aortic arch |
99082 | Dysphagia lusoria |
99083 | Pulmonary artery hypoplasia |
99084 | Peripheral pulmonary stenosis |
99087 | Coronary ostial stenosis or atresia |
99089 | Abnormal number of coronary ostia |
99090 | Malposition of a coronary ostium |
99092 | Interventricular septum aneurysm |
99094 | Laubry-Pezzi syndrome |
99095 | Congenital Gerbode defect |
99098 | Cor triatriatum dexter |
99099 | Cor triatriatum sinister |
99100 | Juxtaposition of the atrial appendages |
99101 | Ectasia of the right atrial appendage |
99102 | Ectasia of the left atrial appendage |
99103 | Atrial septal defect, ostium secundum type |
99104 | Atrial septal defect, coronary sinus type |
99105 | Atrial septal defect, sinus venosus type |
99106 | Atrial septal defect, ostium primum type |
99107 | Atrial septal aneurysm |
99109 | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium |
99110 | Right superior vena cava connecting to left-sided atrium |
99111 | Persistent left superior vena cava connecting to the roof of left-sided atrium |
99112 | Absence of innominate vein |
99113 | Subaortic course of innominate vein |
99114 | Agenesis of the superior vena cava |
99117 | Coronary sinus stenosis |
99118 | Coronary sinus atresia |
99119 | Right inferior vena cava connecting to left-sided atrium |
99120 | Persistent eustachian valve |
99121 | Azygos continuation of the inferior vena cava |
99122 | Congenital stenosis of the inferior vena cava |
99123 | Inferior vena cava interruption without azygos continuation |
99124 | Congenital partial pulmonary venous return anomaly |
99125 | Congenital total pulmonary venous return anomaly |
99126 | Congenital pulmonary vein atresia |
99129 | Congenital complete agenesis of pericardium |
99130 | Congenital partial agenesis of pericardium |
99131 | Pleuro-pericardial cyst |
99135 | 6-phosphogluconate dehydrogenase deficiency |
99138 | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
99139 | Unstable hemoglobin disease |
99141 | Lymphedema-posterior choanal atresia syndrome |
99147 | Acquired von Willebrand syndrome |
99169 | Epiblepharon |
99170 | Tarsal kink syndrome |
99171 | Isolated congenital ectropion |
99172 | Euryblepharon |
99176 | Congenital eyelid retraction |
99177 | Isolated distichiasis |
99179 | Kandori fleck retina |
99226 | Monosomy X |
99228 | Mosaic monosomy X |
99324 | Paternal uniparental disomy of chromosome 13 |
99329 | 48,XYYY syndrome |
99330 | 49,XYYYY syndrome |
99361 | Familial medullary thyroid carcinoma |
99413 | Turner syndrome due to structural X chromosome anomalies |
99429 | Complete androgen insensitivity syndrome |
99642 | Spondyloepimetaphyseal dysplasia, Handigodu type |
99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
99657 | Primary dystonia, DYT2 type |
99672 | Fried's tooth and nail syndrome |
99688 | Dermotrichic syndrome |
99701 | Mesial temporal lobe epilepsy with hippocampal sclerosis |
99704 | Early-onset obesity-hyperphagia-severe developmental delay syndrome |
99710 | Punctate acrokeratoderma freckle-like pigmentation |
99718 | Leber plus disease |
99725 | Pituitary gigantism |
99731 | Isolated sulfite oxidase deficiency |
99732 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency |
99734 | Myotonia fluctuans |
99735 | Myotonia permanens |
99736 | Acetazolamide-responsive myotonia |
99741 | King-Denborough syndrome |
99742 | Amish lethal microcephaly |
99745 | Typhoid |
99748 | Pontiac fever |
99749 | Kostmann syndrome |
99750 | Atypical progressive supranuclear palsy syndrome |
99756 | Alveolar rhabdomyosarcoma |
99757 | Embryonal rhabdomyosarcoma |
99771 | Bifid uvula |
99772 | Cleft velum |
99776 | Mosaic trisomy 9 |
99789 | Dentin dysplasia type I |
99791 | Dentin dysplasia type II |
99792 | Dentin dysplasia-sclerotic bones syndrome |
99796 | Subcortical band heterotopia |
99797 | Anodontia |
99798 | Oligodontia |
99802 | Hemimegalencephaly |
99803 | Haddad syndrome |
99806 | Oculootodental syndrome |
99807 | PEHO-like syndrome |
99810 | Familial porencephaly |
99811 | Neuronal intestinal pseudoobstruction |
99812 | LIG4 syndrome |
99818 | Turcot syndrome with polyposis |
99819 | Familial gestational hyperthyroidism |
99824 | Lassa fever |
99825 | Nipah virus disease |
99826 | Marburg hemorrhagic fever |
99827 | Crimean-Congo hemorrhagic fever |
99828 | Dengue fever |
99829 | Yellow fever |
99832 | Resistance to thyrotropin-releasing hormone syndrome |
99842 | Leukocyte adhesion deficiency type I |
99843 | Leukocyte adhesion deficiency type II |
99844 | Leukocyte adhesion deficiency type III |
99845 | Genetic recurrent myoglobinuria |
99846 | Autosomal dominant myoglobinuria |
99849 | Glycogen storage disease due to muscle beta-enolase deficiency |
99852 | Ravine syndrome |
99853 | Ovarioleukodystrophy |
99854 | Cree leukoencephalopathy |
99856 | Primary syringomyelia |
99857 | Secondary syringomyelia |
99858 | Idiopathic syringomyelia |
99860 | Precursor B-cell acute lymphoblastic leukemia |
99861 | Precursor T-cell acute lymphoblastic leukemia |
99865 | Spermatocytic seminoma |
99867 | Thymoma |
99868 | Thymic carcinoma |
99869 | Thymic neuroendocrine carcinoma |
99879 | Familial isolated hyperparathyroidism |
99880 | Hyperparathyroidism-jaw tumor syndrome |
99885 | Isolated permanent neonatal diabetes mellitus |
99886 | Transient neonatal diabetes mellitus |
99887 | Acute megakaryoblastic leukemia in children with Down syndrome |
99889 | Cushing syndrome due to ectopic ACTH secretion |
99898 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency |
99901 | Acyl-CoA dehydrogenase 9 deficiency |
99903 | Spirillary rat-bite fever |
99905 | Streptobacillary rat-bite fever |
99906 | Farmer's lung disease |
99907 | House allergic alveolitis |
99908 | Pigeon-breeder lung disease |
99912 | Ovarian dysgerminoma |
99914 | Gynandroblastoma |
99915 | Malignant granulosa cell tumor of the ovary |
99916 | Malignant Sertoli-Leydig cell tumor of the ovary |
99917 | Theca steroid-producing cell malignant tumor of ovary, not further specified |
99918 | Streptococcal toxic-shock syndrome |
99919 | Staphylococcal toxic-shock syndrome |
99920 | Acute graft versus host disease |
99921 | Chronic graft versus host disease |
99922 | Ocular cicatricial pemphigoid |
99925 | Invasive mole |
99926 | Gestational choriocarcinoma |
99927 | Hydatidiform mole |
99928 | Placental site trophoblastic tumor |
99930 | Secondary pulmonary hemosiderosis |
99931 | Idiopathic pulmonary hemosiderosis |
99932 | Heiner syndrome |
99933 | Pleuropulmonary blastoma type 1 |
99934 | Pleuropulmonary blastoma type 2 |
99935 | Pleuropulmonary blastoma type 3 |
99936 | Autosomal dominant Charcot-Marie-Tooth disease type 2B |
99937 | Autosomal dominant Charcot-Marie-Tooth disease type 2C |
99938 | Autosomal dominant Charcot-Marie-Tooth disease type 2D |
99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E |
99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F |
99941 | Autosomal dominant Charcot-Marie-Tooth disease type 2G |
99942 | Autosomal dominant Charcot-Marie-Tooth disease type 2I |
99943 | Autosomal dominant Charcot-Marie-Tooth disease type 2J |
99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K |
99945 | Autosomal dominant Charcot-Marie-Tooth disease type 2L |
99946 | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
99948 | Charcot-Marie-Tooth disease type 4A |
99949 | Charcot-Marie-Tooth disease type 4C |
99950 | Charcot-Marie-Tooth disease type 4D |
99951 | Charcot-Marie-Tooth disease type 4E |
99952 | Charcot-Marie-Tooth disease type 4F |
99953 | Charcot-Marie-Tooth disease type 4G |
99954 | Charcot-Marie-Tooth disease type 4H |
99955 | Charcot-Marie-Tooth disease type 4B1 |
99956 | Charcot-Marie-Tooth disease type 4B2 |
99960 | Benign recurrent intrahepatic cholestasis type 1 |
99961 | Benign recurrent intrahepatic cholestasis type 2 |
99965 | O'Sullivan-McLeod syndrome |
99966 | Atypical teratoid rhabdoid tumor |
99967 | Myxoid/round cell liposarcoma |
99969 | Pleomorphic liposarcoma |
99970 | Dedifferentiated liposarcoma |
99971 | Well-differentiated liposarcoma |
99976 | Adenocarcinoma of the esophagus |
99977 | Squamous cell carcinoma of the esophagus |
99978 | Klatskin tumor |
99981 | Apnea of prematurity |
99989 | Intermediate DEND syndrome |
99990 | Brill-Zinsser disease |
99991 | Relapsing epidemic typhus |
99994 | Complex regional pain syndrome type 2 |
99995 | Complex regional pain syndrome type 1 |
100000 | Reticular perineurioma |
100001 | Sclerosing perineurioma |
100002 | Extraneural perineurioma |
100003 | Intraneural perineurioma |
100006 | ABeta amyloidosis, Dutch type |
100008 | ACys amyloidosis |
100011 | Lissencephaly with cerebellar hypoplasia type A |
100012 | Lissencephaly with cerebellar hypoplasia type B |
100013 | Lissencephaly with cerebellar hypoplasia type C |
100014 | Lissencephaly with cerebellar hypoplasia type D |
100015 | Lissencephaly with cerebellar hypoplasia type E |
100016 | Lissencephaly with cerebellar hypoplasia type F |
100019 | Myelodysplastic neoplasm with increased blasts type 1 |
100020 | Myelodysplastic neoplasm with increased blasts type 2 |
100021 | Primary plasmacytoma of the bone |
100022 | Extramedullary soft tissue plasmacytoma |
100024 | Mu-heavy chain disease |
100025 | Alpha-heavy chain disease |
100026 | Gamma-heavy chain disease |
100031 | Hypoplastic amelogenesis imperfecta |
100032 | Hypocalcified amelogenesis imperfecta |
100033 | Hypomaturation amelogenesis imperfecta |
100034 | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
100035 | Solitary necrotic nodule of the liver |
100043 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type A |
100044 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B |
100045 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C |
100046 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
100047 | Esophageal duplication cyst |
100048 | Tubular duplication of the esophagus |
100050 | Hereditary angioedema type 1 |
100051 | Hereditary angioedema type 2 |
100054 | F12-related hereditary angioedema with normal C1Inh |
100055 | Acquired angioedema type 2 |
100056 | Acquired angioedema type 1 |
100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema |
100067 | Waterhouse-Friderichsen syndrome |
100069 | Semantic dementia |
100070 | Progressive non-fluent aphasia |
100071 | Mosaic trisomy 3 |
100073 | Neurogenic thoracic outlet syndrome |
100075 | Neuroendocrine tumor of stomach |
100078 | Ileal neuroendocrine tumor |
100079 | Neuroendocrine neoplasm of appendix |
100080 | Neuroendocrine tumor of the colon |
100081 | Neuroendocrine tumor of the rectum |
100082 | Neuroendocrine tumor of anal canal |
100083 | Laryngeal neuroendocrine tumor |
100084 | Middle ear neuroendocrine tumor |
100085 | Primary hepatic neuroendocrine carcinoma |
100086 | Gallbladder neuroendocrine tumor |
100093 | Carcinoid syndrome |
100924 | Porphyria due to ALA dehydratase deficiency |
100973 | FRAXE intellectual disability |
100974 | FRAXF syndrome |
100976 | Bathing suit ichthyosis |
100978 | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome |
100984 | Autosomal dominant spastic paraplegia type 3 |
100985 | Autosomal dominant spastic paraplegia type 4 |
100986 | Autosomal recessive spastic paraplegia type 5A |
100988 | Autosomal dominant spastic paraplegia type 6 |
100989 | Autosomal dominant spastic paraplegia type 8 |
100991 | Autosomal dominant spastic paraplegia type 10 |
100993 | Autosomal dominant spastic paraplegia type 12 |
100994 | Autosomal dominant spastic paraplegia type 13 |
100995 | Autosomal recessive spastic paraplegia type 14 |
100996 | Autosomal recessive spastic paraplegia type 15 |
100997 | X-linked spastic paraplegia type 16 |
100998 | Autosomal dominant spastic paraplegia type 17 |
100999 | Autosomal dominant spastic paraplegia type 19 |
101000 | Autosomal recessive spastic paraplegia type 20 |
101001 | Autosomal recessive spastic paraplegia type 21 |
101003 | Autosomal recessive spastic paraplegia type 23 |
101004 | Autosomal recessive spastic paraplegia type 24 |
101005 | Autosomal recessive spastic paraplegia type 25 |
101006 | Autosomal recessive spastic paraplegia type 26 |
101007 | Autosomal recessive spastic paraplegia type 27 |
101008 | Autosomal recessive spastic paraplegia type 28 |
101009 | Autosomal dominant spastic paraplegia type 29 |
101010 | Autosomal spastic paraplegia type 30 |
101011 | Autosomal dominant spastic paraplegia type 31 |
101016 | Romano-Ward syndrome |
101023 | Cleft hard palate |
101028 | Transaldolase deficiency |
101029 | Sub-cortical nodular heterotopia |
101030 | Subependymal nodular heterotopia |
101039 | Female restricted epilepsy with intellectual disability |
101041 | Familial hypofibrinogenemia |
101043 | Congenital aortic valve dysplasia |
101046 | Autosomal dominant epilepsy with auditory features |
101049 | Familial hypocalciuric hypercalcemia type 2 |
101050 | Familial hypocalciuric hypercalcemia type 3 |
101063 | Situs inversus totalis |
101068 | Congenital stromal corneal dystrophy |
101070 | Bilateral frontoparietal polymicrogyria |
101071 | Unilateral hemispheric polymicrogyria |
101075 | X-linked Charcot-Marie-Tooth disease type 1 |
101076 | X-linked Charcot-Marie-Tooth disease type 2 |
101077 | X-linked Charcot-Marie-Tooth disease type 3 |
101078 | X-linked Charcot-Marie-Tooth disease type 4 |
101081 | Charcot-Marie-Tooth disease type 1A |
101082 | Charcot-Marie-Tooth disease type 1B |
101083 | Charcot-Marie-Tooth disease type 1C |
101084 | Charcot-Marie-Tooth disease type 1D |
101085 | Charcot-Marie-Tooth disease type 1F |
101088 | X-linked hyper-IgM syndrome |
101089 | Hyper-IgM syndrome type 2 |
101090 | Hyper-IgM syndrome type 3 |
101091 | Hyper-IgM syndrome type 4 |
101092 | Hyper-IgM syndrome type 5 |
101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
101101 | Charcot-Marie-Tooth disease type 2B2 |
101102 | Charcot-Marie-Tooth disease type 2H |
101104 | Marin-Amat syndrome |
101108 | Spinocerebellar ataxia type 23 |
101109 | Spinocerebellar ataxia type 28 |
101110 | Spinocerebellar ataxia type 20 |
101111 | Spinocerebellar ataxia type 25 |
101112 | Spinocerebellar ataxia type 26 |
101150 | Autosomal recessive dopa-responsive dystonia |
101206 | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome |
101330 | Porphyria cutanea tarda |
101334 | African tick typhus |
101351 | Familial isolated congenital asplenia |
101685 | Rare non-syndromic intellectual disability |
101932 | Anomaly of the mitral subvalvular apparatus |
102379 | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent |
102381 | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor |
102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation |
103907 | Chronic diarrhea due to glucoamylase deficiency |
103908 | Congenital sodium diarrhea |
103909 | Trehalase deficiency |
103910 | Congenital enterocyte heparan sulfate deficiency |
103918 | Tropical pancreatitis |
103920 | Undetermined colitis |
104075 | Adenocarcinoma of the small intestine |
104076 | Leiomyosarcoma of small intestine |
104077 | Myopathic intestinal pseudoobstruction |
104078 | Unclassified intestinal pseudoobstruction |
137577 | Neonatal hypoxic and ischemic brain injury |
137583 | Vulvar intraepithelial neoplasia |
137593 | Infectious epithelial keratitis |
137596 | Neurotrophic keratopathy |
137599 | Herpes simplex virus stromal keratitis |
137602 | Corneal endotheliitis |
137605 | Legius syndrome |
137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome |
137617 | Nephrogenic systemic fibrosis |
137622 | Intractable diarrhea-choanal atresia-eye anomalies syndrome |
137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
137628 | Cardiac anomalies-heterotaxy syndrome |
137631 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome |
137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome |
137639 | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome |
137667 | Capillary malformation-arteriovenous malformation |
137672 | Pellucid marginal degeneration |
137675 | Histiocytoid cardiomyopathy |
137678 | Spondyloepiphyseal dysplasia with metatarsal shortening |
137681 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
137686 | Asherman syndrome |
137698 | Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk |
137754 | Aminoacylase 1 deficiency |
137776 | Lethal congenital contracture syndrome type 2 |
137783 | Lethal congenital contracture syndrome type 3 |
137810 | Nodular cutaneous amyloidosis |
137814 | Macular amyloidosis |
137817 | Arachnoiditis |
137820 | Extrapelvic endometriosis |
137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome |
137834 | Frank-Ter Haar syndrome |
137839 | Lemierre syndrome |
137867 | Madras motor neuron disease |
137888 | Auriculocondylar syndrome |
137893 | Male infertility due to large-headed multiflagellar polyploid spermatozoa |
137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
137908 | Hypotonia with lactic acidemia and hyperammonemia |
137914 | Choanal atresia |
137917 | Choanal atresia, unilateral |
137920 | Choanal atresia, bilateral |
137926 | Primary laryngeal lymphangioma |
137929 | Neonatal brainstem dysfunction |
137932 | Congenital laryngeal palsy |
137935 | Airway infantile hemangioma |
139396 | X-linked cerebral adrenoleukodystrophy |
139399 | Adrenomyeloneuropathy |
139402 | Drug reaction with eosinophilia and systemic symptoms |
139406 | Encephalopathy due to prosaposin deficiency |
139411 | Carney triad |
139414 | Congenital panfollicular nevus |
139417 | Acute transverse myelitis |
139423 | Idiopathic acute transverse myelitis |
139426 | Perioral myoclonia with absences |
139431 | Epilepsy with eyelid myoclonia |
139436 | Multicentric reticulohistiocytosis |
139441 | Hypomyelination with atrophy of basal ganglia and cerebellum |
139444 | Leukoencephalopathy with bilateral anterior temporal lobe cysts |
139447 | Progressive cavitating leukoencephalopathy |
139450 | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
139455 | Autosomal recessive bestrophinopathy |
139466 | SERKAL syndrome |
139471 | Microphthalmia with brain and digit anomalies |
139474 | 17q11.2 microduplication syndrome |
139480 | Autosomal recessive spastic paraplegia type 39 |
139485 | Autosomal recessive ataxia due to ubiquinone deficiency |
139507 | Dietary iron overload disease |
139512 | Neuropathy with hearing impairment |
139515 | Charcot-Marie-Tooth disease type 4J |
139518 | Distal hereditary motor neuropathy type 1 |
139525 | Distal hereditary motor neuropathy type 2 |
139536 | Distal hereditary motor neuropathy type 5 |
139547 | Distal spinal muscular atrophy type 3 |
139552 | Distal hereditary motor neuropathy, Jerash type |
139557 | X-linked distal spinal muscular atrophy type 3 |
139564 | Hereditary sensory and autonomic neuropathy type 1B |
139573 | Hereditary sensory and autonomic neuropathy with deafness and global delay |
139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia |
139583 | X-linked hereditary sensory and autonomic neuropathy with deafness |
139589 | Distal hereditary motor neuropathy type 7 |
140286 | Secondary hypoparathyroidism due to impaired parathormon secretion |
140436 | Primary intraosseous venous malformation |
140481 | Autosomal dominant slowed nerve conduction velocity |
140896 | Severe acute respiratory syndrome |
140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency |
140908 | Brachydactyly type B2 |
140917 | Stapes ankylosis with broad thumbs and toes |
140922 | Titin-related limb-girdle muscular dystrophy R10 |
140927 | Benign familial neonatal-infantile seizures |
140933 | Linear atrophoderma of Moulin |
140936 | Lelis syndrome |
140941 | Short stature due to primary acid-labile subunit deficiency |
140944 | CLOVES syndrome |
140949 | Low-flow priapism |
140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome |
140957 | Autosomal dominant macrothrombocytopenia |
140963 | Bilateral microtia-deafness-cleft palate syndrome |
140966 | Palmoplantar keratoderma, Nagashima type |
140969 | Saldino-Mainzer syndrome |
140976 | RHYNS syndrome |
140989 | Primary angiitis of the central nervous system |
141000 | Orofaciodigital syndrome type 11 |
141007 | Orofaciodigital syndrome type 9 |
141013 | First branchial cleft anomaly |
141022 | Second branchial cleft anomaly |
141030 | Third branchial cleft anomaly |
141037 | Fourth branchial cleft anomaly |
141046 | Cervical dermoid cyst |
141051 | Facial dermoid cyst |
141061 | Commissural lip fistula |
141064 | Lower lip fistula |
141067 | Cervicofacial fibrochondroma |
141071 | Digestive duplication cyst of the tongue |
141074 | External auditory canal aplasia/hypoplasia |
141077 | Epignathus |
141083 | Nasolacrimal duct cyst |
141091 | Polyrrhinia |
141096 | Supernumerary nostril |
141099 | Proboscis lateralis |
141103 | Nasal dermoid cyst |
141107 | Nasopharyngeal teratoma |
141112 | Nasal glial heterotopia |
141115 | Nasal ganglioglioma |
141118 | Nasal encephalocele |
141121 | Congenital subglottic stenosis |
141124 | Congenital laryngeal cyst |
141127 | Congenital tracheal stenosis |
141132 | Oculo-auriculo-vertebral spectrum |
141145 | Hemifacial hyperplasia |
141148 | Hemifacial myohyperplasia |
141152 | Isolated congenital hypoglossia/aglossia |
141163 | Glossopalatine ankylosis |
141168 | Frontonasal arteriovenous malformation |
141171 | Maxillary arteriovenous malformation |
141174 | Mandibular arteriovenous malformation |
141179 | Non-involuting congenital hemangioma |
141184 | Rapidly involuting congenital hemangioma |
141194 | Cerebrofacial arteriovenous metameric syndrome type 1 |
141199 | Cerebrofacial arteriovenous metameric syndrome type 3 |
141209 | Diffuse lymphatic malformation |
141214 | Isolated congenital syngnathia |
141219 | Nasal dorsum fistula |
141239 | Median cleft of the upper lip and maxilla |
141242 | Paramedian nasal cleft |
141258 | Tessier number 4 facial cleft |
141261 | Tessier number 5 facial cleft |
141265 | Tessier number 6 facial cleft |
141276 | Tessier number 7 facial cleft |
141288 | Midline cervical cleft |
141291 | Cleft lip and alveolus |
141333 | Biemond syndrome type 2 |
155838 | Pinnae fistula or cyst |
155878 | Submucosal cleft palate |
155884 | Coloboma of superior eyelid |
155889 | Coloboma of inferior eyelid |
156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type |
156731 | Dyssegmental dysplasia, Rolland-Desbuquois type |
157215 | Hereditary hypophosphatemic rickets with hypercalciuria |
157713 | Congenital or early infantile CACH syndrome |
157716 | Late infantile CACH syndrome |
157719 | Juvenile or adult CACH syndrome |
157769 | Situs ambiguus |
157791 | Epithelioid hemangioendothelioma |
157794 | Hereditary mixed polyposis syndrome |
157798 | Serrated polyposis syndrome |
157801 | Mesoaxial synostotic syndactyly with phalangeal reduction |
157808 | Isolated pseudoarthrosis of the limbs |
157820 | Cold-induced sweating syndrome |
157823 | Klüver-Bucy syndrome |
157826 | Congenital epulis |
157832 | Craniorhiny |
157835 | Paroxysmal hemicrania |
157846 | Neuroferritinopathy |
157850 | Pantothenate kinase-associated neurodegeneration |
157941 | Huntington disease-like 1 |
157946 | Huntington disease-like 3 |
157949 | Combined immunodeficiency with granulomatosis |
157954 | ANE syndrome |
157962 | Oculoauricular syndrome, Schorderet type |
157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome |
157973 | Congenital muscular dystrophy due to LMNA mutation |
157991 | Generalized eruptive histiocytosis |
157997 | Benign cephalic histiocytosis |
158000 | Juvenile xanthogranuloma |
158003 | Xanthoma disseminatum |
158008 | Papular xanthoma |
158011 | Necrobiotic xanthogranuloma |
158014 | Rosaï-Dorfman disease |
158019 | Indeterminate cell histiocytosis |
158022 | Progressive nodular histiocytosis |
158025 | Hereditary progressive mucinous histiocytosis |
158029 | Sea-blue histiocytosis |
158048 | Hemophagocytic syndrome associated with an infection |
158057 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease |
158061 | Macrophage activation syndrome |
158668 | Ectodermal dysplasia-skin fragility syndrome |
158673 | Localized dystrophic epidermolysis bullosa, acral form |
158676 | Localized dystrophic epidermolysis bullosa, nails only |
158681 | Epidermolysis bullosa simplex with circinate migratory erythema |
158684 | Epidermolysis bullosa simplex with pyloric atresia |
158687 | Lethal acantholytic erosive disorder |
158766 | Typical urticaria pigmentosa |
158769 | Plaque-form urticaria pigmentosa |
158772 | Nodular urticaria pigmentosa |
158775 | Smoldering systemic mastocytosis |
158778 | Isolated bone marrow mastocytosis |
160148 | Cap polyposis |
162516 | Isolated congenital nasal pyriform aperture stenosis |
162526 | Isolated congenital auditory ossicle malformation |
163525 | Subacute cutaneous lupus erythematosus |
163596 | Hb Bart's hydrops fetalis |
163634 | Maffucci syndrome |
163649 | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome |
163654 | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome |
163662 | Spondyloepiphyseal dysplasia, Reardon type |
163665 | Spondyloepiphyseal dysplasia tarda, Kohn type |
163668 | Spondyloepiphyseal dysplasia, MacDermot type |
163681 | CNTNAP2-related developmental and epileptic encephalopathy |
163684 | Leukoencephalopathy-dystonia-motor neuropathy syndrome |
163690 | Hypotonia-cystinuria syndrome |
163693 | 2p21 microdeletion syndrome |
163696 | Action myoclonus-renal failure syndrome |
163699 | Alveolar soft tissue sarcoma |
163703 | Febrile infection-related epilepsy syndrome |
163708 | Cryptogenic late-onset epileptic spasms |
163717 | Benign familial mesial temporal lobe epilepsy |
163721 | Rolandic epilepsy-speech dyspraxia syndrome |
163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease |
163921 | Posttransplant acute limbic encephalitis |
163927 | Pustulosis palmaris et plantaris |
163931 | Acrodermatitis continua of Hallopeau |
163934 | Atopic keratoconjunctivitis |
163937 | X-linked intellectual disability, Najm type |
163956 | X-linked intellectual disability, Nascimento type |
163961 | X-linked cerebral-cerebellar-coloboma syndrome |
163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
163971 | X-linked intellectual disability, Cilliers type |
163976 | X-linked intellectual disability, Van Esch type |
163979 | X-linked intellectual disability-craniofacioskeletal syndrome |
163985 | Hyperekplexia-epilepsy syndrome |
164726 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation |
164736 | Familial advanced sleep-phase syndrome |
165805 | Familial mesial temporal lobe epilepsy with febrile seizures |
165955 | Wound myiasis |
165958 | Cavitary myiasis |
165991 | Exercise-induced hyperinsulinism |
166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly |
166016 | Multiple epiphyseal dysplasia, Lowry type |
166024 | Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome |
166029 | Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome |
166032 | Multiple epiphyseal dysplasia-miniepiphyses syndrome |
166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome |
166038 | Metaphyseal chondrodysplasia, Kaitila type |
166063 | Pontocerebellar hypoplasia type 4 |
166073 | Pontocerebellar hypoplasia type 6 |
166078 | Von Willebrand disease type 1 |
166081 | Von Willebrand disease type 2 |
166084 | Von Willebrand disease type 2A |
166087 | Von Willebrand disease type 2B |
166090 | Von Willebrand disease type 2M |
166093 | Von Willebrand disease type 2N |
166096 | Von Willebrand disease type 3 |
166100 | Autosomal dominant otospondylomegaepiphyseal dysplasia |
166105 | FASTKD2-related infantile mitochondrial encephalomyopathy |
166108 | Intellectual disability, Birk-Barel type |
166113 | Bazex syndrome |
166119 | Isolated osteopoikilosis |
166260 | Dentinogenesis imperfecta type 2 |
166265 | Dentinogenesis imperfecta type 3 |
166272 | Odontochondrodysplasia |
166277 | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
166282 | Familial sick sinus syndrome |
166286 | Porokeratotic eccrine ostial and dermal duct nevus |
166291 | Dirofilariasis |
166299 | Benign partial epilepsy of infancy with complex partial seizures |
166302 | Benign partial epilepsy with secondarily generalized seizures in infancy |
166305 | Benign infantile seizures associated with mild gastroenteritis |
166308 | Benign infantile focal epilepsy with midline spikes and waves during sleep |
166409 | Photosensitive epilepsy |
166412 | Hot water reflex epilepsy |
166415 | Audiogenic seizures |
166418 | Eating reflex epilepsy |
166421 | Orgasm-induced seizures |
166424 | Thinking seizures |
166427 | Startle epilepsy |
166430 | Micturation-induced seizures |
166433 | Reading seizures |
167635 | Scleromyxedema |
168443 | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome |
168451 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome |
168454 | Spondyloepimetaphyseal dysplasia, Geneviève type |
168544 | Spondylometaphyseal dysplasia, Golden type |
168549 | Axial spondylometaphyseal dysplasia |
168552 | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
168555 | Spondylometaphyseal dysplasia, A4 type |
168558 | 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency |
168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome |
168566 | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
168569 | H syndrome |
168572 | Native American myopathy |
168577 | Hereditary cryohydrocytosis with reduced stomatin |
168583 | Hereditary North American Indian childhood cirrhosis |
168588 | Hyperandrogenism due to cortisone reductase deficiency |
168593 | Sudden infant death-dysgenesis of the testes syndrome |
168598 | Methionine adenosyltransferase I/III deficiency |
168601 | Congenital enteropathy due to enteropeptidase deficiency |
168606 | Seborrhea-like dermatitis with psoriasiform elements |
168612 | Congenital deficiency in alpha-fetoprotein |
168615 | Hereditary persistence of alpha-fetoprotein |
168621 | Dysplasia of head of femur, Meyer type |
168624 | Familial scaphocephaly syndrome, McGillivray type |
168629 | Autosomal thrombocytopenia with normal platelets |
168632 | Generalized basaloid follicular hamartoma syndrome |
168782 | Childhood disintegrative disorder |
168796 | Heart-hand syndrome, Slovenian type |
168811 | Malignant peritoneal mesothelioma |
168816 | Peritoneal inclusion cyst |
168829 | Primary peritoneal carcinoma |
168940 | Chronic eosinophilic leukemia |
168947 | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement |
168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
168960 | Refractory anemia with excess blasts in transformation |
168966 | Composite lymphoma |
168984 | CLAPO syndrome |
168999 | Malignant melanoma of the mucosa |
169079 | Cernunnos-XLF deficiency |
169082 | Combined immunodeficiency due to CD3gamma deficiency |
169085 | Susceptibility to respiratory infections associated with CD8alpha chain mutation |
169090 | Combined immunodeficiency due to CRAC channel dysfunction |
169095 | Severe combined immunodeficiency due to FOXN1 deficiency |
169100 | Immunodeficiency due to CD25 deficiency |
169105 | Good syndrome |
169110 | Immunoglobulin heavy chain deficiency |
169139 | Transient hypogammaglobulinemia of infancy |
169142 | Recurrent infections due to specific granule deficiency |
169147 | Immunodeficiency due to a classical component pathway complement deficiency |
169150 | Immunodeficiency due to a late component of complement deficiency |
169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
169157 | T-B+ severe combined immunodeficiency due to CD45 deficiency |
169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
169186 | Autosomal recessive centronuclear myopathy |
169189 | Autosomal dominant centronuclear myopathy |
169464 | Primary CD59 deficiency |
169467 | Recurrent Neisseria infections due to factor D deficiency |
169793 | Severe hemophilia B |
169796 | Moderate hemophilia B |
169799 | Mild hemophilia B |
169802 | Severe hemophilia A |
169805 | Moderate hemophilia A |
169808 | Mild hemophilia A |
171220 | Rectal duplication |
171430 | Severe congenital nemaline myopathy |
171433 | Intermediate nemaline myopathy |
171436 | Typical nemaline myopathy |
171439 | Childhood-onset nemaline myopathy |
171442 | Adult-onset nemaline myopathy |
171445 | Muscle filaminopathy |
171607 | X-linked spastic paraplegia type 34 |
171612 | Autosomal dominant spastic paraplegia type 37 |
171617 | Autosomal dominant spastic paraplegia type 38 |
171622 | Autosomal recessive spastic paraplegia type 32 |
171629 | Autosomal recessive spastic paraplegia type 35 |
171673 | Limbal stem cell deficiency |
171680 | Lissencephaly due to TUBA1A mutation |
171684 | Idiopathic bilateral vestibulopathy |
171690 | Metabolic myopathy due to lactate transporter defect |
171695 | Parkinsonian-pyramidal syndrome |
171700 | Diffuse panbronchiolitis |
171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome |
171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency |
171709 | Male infertility due to globozoospermia |
171719 | Cutis laxa-Marfanoid syndrome |
171723 | White sponge nevus |
171829 | 6q16 microdeletion syndrome |
171839 | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome |
171844 | Blindness-scoliosis-arachnodactyly syndrome |
171848 | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
171851 | MEDNIK syndrome |
171863 | Autosomal dominant spastic paraplegia type 42 |
171866 | Spondyloepimetaphyseal dysplasia, aggrecan type |
171871 | Renal pseudohypoaldosteronism type 1 |
171876 | Generalized pseudohypoaldosteronism type 1 |
171881 | Cap myopathy |
171886 | Cylindrical spirals myopathy |
171889 | Myopathy with hexagonally cross-linked tubular arrays |
171929 | Trisomy 10p |
177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 |
177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 |
177907 | Prader-Willi syndrome due to translocation |
177910 | Prader-Willi syndrome due to imprinting mutation |
177926 | Bleeding disorder in hemophilia A carriers |
177929 | Bleeding disorder in hemophilia B carriers |
178029 | Arginine vasopressin deficiency |
178145 | Moderate multiminicore disease with hand involvement |
178148 | Antenatal multiminicore disease with arthrogryposis multiplex congenita |
178303 | 8q22.1 microdeletion syndrome |
178307 | Reticulate acropigmentation of Kitamura |
178311 | Isolated sternocostoclavicular hyperostosis |
178315 | Undifferentiated embryonal sarcoma of the liver |
178320 | Acute lung injury |
178333 | Åland Islands eye disease |
178338 | UV-sensitive syndrome |
178342 | Inflammatory myofibroblastic tumor |
178345 | Aromatase excess syndrome |
178355 | Smith-McCort dysplasia |
178364 | Syndromic microphthalmia type 5 |
178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome |
178382 | Congenital vertical talus |
178389 | Osteopetrosis-hypogammaglobulinemia syndrome |
178396 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation |
178400 | Distal myopathy with anterior tibial onset |
178461 | X-linked myopathy with postural muscle atrophy |
178464 | Hereditary myopathy with early respiratory failure |
178469 | Autosomal dominant non-syndromic intellectual disability |
178475 | Wound botulism |
178478 | Infant botulism |
178481 | Intestinal botulism |
178487 | Adult intestinal botulism |
178506 | Brain calcification, Rajab type |
178509 | Perry syndrome |
178512 | Folliculotropic mycosis fungoides |
178517 | Localized pagetoid reticulosis |
178522 | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma |
178528 | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma |
178533 | Primary cutaneous gamma/delta-positive T-cell lymphoma |
178536 | Primary cutaneous marginal zone B-cell lymphoma |
178540 | Primary cutaneous follicle center lymphoma |
178544 | Primary cutaneous diffuse large B-cell lymphoma, leg type |
179490 | Obesity due to congenital leptin resistance |
179494 | Obesity due to leptin receptor gene deficiency |
180074 | True unicornuate uterus |
180079 | Pseudounicornuate uterus |
180086 | Didelphys uterus |
180106 | Bicervical bicornuate uterus and blind hemivagina |
180111 | Bicervical bicornuate uterus with patent cervix and vagina |
180114 | Unicervical bicornuate uterus |
180126 | Complete septate uterus |
180129 | Partial septate uterus |
180139 | Uterine hypoplasia |
180142 | Absence of uterine body |
180145 | Uterine cervical aplasia and agenesis |
180154 | Septate vagina |
180157 | Longitudinal vaginal septum |
180160 | Transverse vaginal septum |
180176 | Familial juvenile hypertrophy of the breast |
180182 | Supernumerary breasts |
180188 | Isolated congenital breast hypoplasia/aplasia |
180226 | Embryonal carcinoma |
180229 | Polyembryoma |
180234 | Mixed germ cell tumor |
180237 | Benign tumor of fallopian tubes |
180242 | Malignant tumor of fallopian tubes |
180247 | Vaginal carcinoma |
180261 | Phyllodes tumor of the breast |
180267 | Giant adenofibroma of the breast |
180275 | Paget disease of the nipple |
182050 | MYH9-related disease |
182127 | Extragonadal germinoma |
183663 | Hyper-IgM syndrome with susceptibility to opportunistic infections |
183666 | Hyper-IgM syndrome without susceptibility to opportunistic infections |
183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency |
183678 | Hermansky-Pudlak syndrome due to AP-3 deficiency |
183707 | Infantile LAD-like disease due to RAC2 deficiency |
183713 | Bacterial susceptibility due to TLR signaling pathway deficiency |
189427 | Cushing syndrome due to bilateral macronodular adrenocortical disease |
189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion |
199241 | Pulmonary capillary hemangiomatosis |
199244 | Nelson syndrome |
199247 | Corticosteroid-binding globulin deficiency |
199251 | Ledderhose disease |
199260 | Calcifying aponeurotic fibroma |
199267 | Infantile digital fibromatosis |
199276 | Familial multiple lipomatosis |
199279 | Familial angiolipomatosis |
199282 | Harlequin syndrome |
199285 | Hereditary hypercarotenemia and vitamin A deficiency |
199293 | Congenital microgastria |
199296 | Congenital isolated ACTH deficiency |
199299 | Late-onset isolated ACTH deficiency |
199302 | Isolated cleft lip |
199306 | Cleft lip/palate |
199310 | Tetragametic chimerism |
199315 | Familial clubfoot with or without associated lower limb anomalies |
199318 | 15q13.3 microdeletion syndrome |
199323 | Endophthalmitis |
199326 | Isolated autosomal dominant hypomagnesemia, Glaudemans type |
199329 | Congenital myopathy, Paradas type |
199332 | Endocrine-cerebro-osteodysplasia syndrome |
199337 | Pancreatic insufficiency-anemia-hyperostosis syndrome |
199340 | Muscular dystrophy, Selcen type |
199343 | EAST syndrome |
199348 | Thiamine-responsive encephalopathy |
199351 | Adult-onset dystonia-parkinsonism |
199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
199627 | Atypical autism |
199630 | Isolated cerebellar vermis hypoplasia |
199642 | Isolated congenital microcephaly |
199647 | Isolated encephalocele |
200418 | Immunodeficiency with factor I anomaly |
200421 | Immunodeficiency with factor H anomaly |
206436 | Infantile Krabbe disease |
206443 | Late-infantile/juvenile Krabbe disease |
206448 | Adult Krabbe disease |
206470 | Cystadenoma of childhood |
206484 | Gonadoblastoma |
206489 | Malignant germ cell tumor of the vagina |
206492 | Vulvovaginal rhabdomyosarcoma |
206538 | Malignant non-dysgerminomatous germ cell tumor of ovary |
206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers |
206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 |
206554 | Fukutin-related limb-girdle muscular dystrophy R13 |
206559 | POMT2-related limb-girdle muscular dystrophy R14 |
206564 | POMGNT1-related limb-girdle muscular dystrophy R15 |
206569 | Immune-mediated necrotizing myopathy |
206572 | Overlap myositis |
206575 | Rippling muscle disease with myasthenia gravis |
206580 | Autosomal recessive lower motor neuron disease with childhood onset |
206583 | Adult polyglucosan body disease |
206586 | Neurolymphomatosis |
206594 | Subacute inflammatory demyelinating polyneuropathy |
206599 | Isolated asymptomatic elevation of creatine phosphokinase |
206991 | Viral myositis |
206994 | Bacterial myositis |
207000 | Fungal myositis |
208441 | Bilateral parasagittal parieto-occipital polymicrogyria |
208444 | Bilateral frontal polymicrogyria |
208447 | Bilateral generalized polymicrogyria |
208513 | Spinocerebellar ataxia type 29 |
208524 | Herpetiform pemphigus |
208989 | Non-paraneoplastic sensory ganglionopathy |
208999 | Paraneoplastic sensory ganglionopathy |
209004 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy |
209335 | Autosomal dominant adult-onset proximal spinal muscular atrophy |
209341 | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
209370 | Severe neonatal-onset encephalopathy with microcephaly |
209867 | Autosomal dominant rhegmatogenous retinal detachment |
209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
209905 | Brain-lung-thyroid syndrome |
209908 | Isolated childhood apraxia of speech |
209916 | Extraskeletal myxoid chondrosarcoma |
209919 | Idiopathic copper-associated cirrhosis |
209932 | Cone dystrophy with supernormal rod response |
209943 | IRVAN syndrome |
209951 | Autosomal spastic paraplegia type 18 |
209956 | Idiopathic uveal effusion syndrome |
209959 | Phacoanaphylactic uveitis |
209964 | Solitary rectal ulcer syndrome |
209967 | Episodic ataxia type 6 |
209970 | Episodic ataxia type 7 |
209973 | Benign nocturnal alternating hemiplegia of childhood |
209981 | IRIDA syndrome |
209989 | Non-papillary transitional cell carcinoma of the bladder |
210110 | Intermediate osteopetrosis |
210115 | Sterile multifocal osteomyelitis with periostitis and pustulosis |
210122 | Congenital alveolar capillary dysplasia |
210128 | Urocanic aciduria |
210133 | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome |
210136 | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome |
210141 | Inherited congenital spastic tetraplegia |
210144 | Lethal polymalformative syndrome, Boissel type |
210159 | Adult hepatocellular carcinoma |
210163 | Congenital lethal myopathy, Compton-North type |
210272 | Mal de débarquement |
210548 | Macrocephaly-intellectual disability-autism syndrome |
210571 | Dystonia 16 |
210576 | Congenital temporomandibular joint ankylosis |
210584 | Spindle cell hemangioma |
211017 | Spinocerebellar ataxia type 30 |
211067 | Episodic ataxia type 5 |
213504 | Adenocarcinoma of ovary |
213512 | Malignant mixed Müllerian tumor of the ovary |
213528 | Rare adenocarcinoma of the breast |
213531 | Metaplastic carcinoma of the breast |
213557 | Salivary gland type cancer of the breast |
213600 | Adenosarcoma of the corpus uteri |
213605 | Carcinofibroma of the corpus uteri |
213610 | Carcinosarcoma of the corpus uteri |
213615 | Rhabdomyosarcoma of the corpus uteri |
213625 | Leiomyosarcoma of the corpus uteri |
213630 | Primitive neuroectodermal tumor of the corpus uteri |
213711 | Endometrial stromal sarcoma |
213716 | Squamous cell carcinoma of the corpus uteri |
213721 | Undifferentiated carcinoma of the corpus uteri |
213726 | Serous carcinoma of the corpus uteri |
213731 | High-grade neuroendocrine carcinoma of the corpus uteri |
213736 | Low-grade neuroendocrine tumor of the corpus uteri |
213746 | Transitional cell carcinoma of the corpus uteri |
213751 | Malignant germ cell tumor of the corpus uteri |
213767 | Squamous cell carcinoma of the cervix uteri |
213772 | Adenocarcinoma of the cervix uteri |
213777 | High-grade neuroendocrine carcinoma of the cervix uteri |
213787 | Carcinosarcoma of the cervix uteri |
213792 | Adenosarcoma of the cervix uteri |
213802 | Rhabdomyosarcoma of the cervix uteri |
213807 | Leiomyosarcoma of the cervix uteri |
213812 | Primitive neuroectodermal tumor of the cervix uteri |
213823 | Adenoid cystic carcinoma of the cervix uteri |
213828 | Adenoid basal carcinoma of the cervix uteri |
213833 | Glassy cell carcinoma of the cervix uteri |
213837 | Malignant germ cell tumor of the cervix uteri |
216694 | Congenitally corrected transposition of the great arteries |
216718 | Isolated congenitally uncorrected transposition of the great arteries |
216729 | Congenitally uncorrected transposition of the great arteries with cardiac malformation |
216796 | Osteogenesis imperfecta type 1 |
216804 | Osteogenesis imperfecta type 2 |
216812 | Osteogenesis imperfecta type 3 |
216820 | Osteogenesis imperfecta type 4 |
216828 | Osteogenesis imperfecta type 5 |
216866 | Classic pantothenate kinase-associated neurodegeneration |
216873 | Atypical pantothenate kinase-associated neurodegeneration |
216972 | Niemann-Pick disease type C, severe perinatal form |
216975 | Niemann-Pick disease type C, severe early infantile neurologic onset |
216978 | Niemann-Pick disease type C, late infantile neurologic onset |
216981 | Niemann-Pick disease type C, juvenile neurologic onset |
216986 | Niemann-Pick disease type C, adult neurologic onset |
217008 | Bockenheimer syndrome |
217012 | Spinocerebellar ataxia type 31 |
217017 | Zechi-Ceide syndrome |
217026 | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type |
217055 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A |
217059 | Isolated nail clubbing |
217064 | 5-fluorouracil poisoning |
217067 | Pouchitis |
217080 | Pulmonary fungal infections in patients deemed at risk |
217085 | Mucopolysaccharidosis type 2, severe form |
217093 | Mucopolysaccharidosis type 2, attenuated form |
217253 | NMDA receptor encephalitis |
217260 | Progressive multifocal leukoencephalopathy |
217266 | BNAR syndrome |
217330 | REN-related autosomal dominant tubulointerstitial kidney disease |
217335 | RIN2 syndrome |
217340 | 17q21.31 microduplication syndrome |
217346 | 19q13.11 microdeletion syndrome |
217371 | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
217377 | Microduplication Xp11.22p11.23 syndrome |
217382 | Neurodegenerative syndrome due to cerebral folate transport deficiency |
217385 | 17p13.3 microduplication syndrome |
217390 | Combined immunodeficiency due to DOCK8 deficiency |
217396 | Progressive polyneuropathy with bilateral striatal necrosis |
217399 | Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation |
217407 | Hereditary hypotrichosis with recurrent skin vesicles |
217467 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
217557 | Pulmonary interstitial glycogenosis |
217560 | Neuroendocrine cell hyperplasia of infancy |
217563 | Neonatal acute respiratory distress due to SP-B deficiency |
217566 | Chronic respiratory distress with surfactant metabolism deficiency |
217622 | Sensorineural deafness with dilated cardiomyopathy |
217656 | Inherited isolated arrhythmogenic cardiomyopathy |
220295 | Xeroderma pigmentosum-Cockayne syndrome complex |
220386 | Semilobar holoprosencephaly |
220393 | Diffuse cutaneous systemic sclerosis |
220402 | Limited cutaneous systemic sclerosis |
220407 | Limited systemic sclerosis |
220436 | Quebec platelet disorder |
220443 | Bleeding diathesis due to thromboxane synthesis deficiency |
220448 | Macrothrombocytopenia with mitral valve insufficiency |
220460 | Attenuated familial adenomatous polyposis |
220465 | Laron syndrome with immunodeficiency |
220493 | Joubert syndrome with ocular defect |
220497 | Joubert syndrome with renal defect |
221008 | Rothmund-Thomson syndrome type 1 |
221016 | Rothmund-Thomson syndrome type 2 |
221039 | Hereditary sclerosing poikiloderma, Weary type |
221043 | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome |
221046 | Poikiloderma with neutropenia |
221054 | Acrocephalopolydactyly |
221061 | Familial cerebral cavernous malformation |
221074 | Marchiafava-Bignami disease |
221078 | Combined hyperactive dysfunction syndrome of the cranial nerves |
221083 | Hemifacial spasm |
221091 | Trigeminal neuralgia |
221098 | Glossopharyngeal neuralgia |
221117 | Gerstmann syndrome |
221120 | Pseudoaminopterin syndrome |
221126 | Fowler vasculopathy |
221139 | Combined immunodeficiency with facio-oculo-skeletal anomalies |
221142 | Confetti-like macular atrophy |
221145 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
225123 | TFR2-related hemochromatosis |
225147 | Sporadic infantile bilateral striatal necrosis |
225154 | Familial infantile bilateral striatal necrosis |
226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function |
226313 | Congenital hypothyroidism due to maternal intake of antithyroid drugs |
226316 | Genetic transient congenital hypothyroidism |
227510 | Multiple system atrophy, cerebellar type |
227535 | Hereditary breast cancer |
227796 | Fundus albipunctatus |
227972 | Toxic oil syndrome |
227976 | Autosomal recessive optic atrophy, OPA7 type |
227982 | Autoimmune polyendocrinopathy type 3 |
227990 | Autoimmune polyendocrinopathy type 4 |
228000 | Idiopathic CD4 lymphocytopenia |
228003 | Severe combined immunodeficiency due to CORO1A deficiency |
228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome |
228113 | Anal fistula |
228116 | Hughes-Stovin syndrome |
228119 | Fusariosis |
228123 | Coccidioidomycosis |
228140 | Idiopathic ventricular fibrillation, non Brugada type |
228157 | Marburg acute multiple sclerosis |
228165 | Baló concentric sclerosis |
228169 | Autosomal dominant striatal neurodegeneration |
228174 | Autosomal dominant Charcot-Marie-Tooth disease type 2N |
228179 | Autosomal dominant Charcot-Marie-Tooth disease type 2M |
228190 | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome |
228227 | Late-onset focal dermal elastosis |
228236 | Linear focal elastosis |
228240 | Elastoderma |
228243 | Elastofibroma dorsi |
228247 | Acquired pseudoxanthoma elasticum |
228254 | Elastoma |
228264 | Papular elastorrhexis |
228272 | Primary anetoderma |
228277 | Familial anetoderma |
228285 | Acquired cutis laxa |
228290 | White fibrous papulosis of the neck |
228293 | Pseudoxanthoma elasticum-like papillary dermal elastolysis |
228299 | Mid-dermal elastolysis |
228302 | Carnitine palmitoyl transferase II deficiency, myopathic form |
228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form |
228308 | Carnitine palmitoyl transferase II deficiency, neonatal form |
228329 | CLN1 disease |
228337 | CLN10 disease |
228343 | CLN4 disease |
228346 | CLN3 disease |
228349 | CLN2 disease |
228354 | CLN8 disease |
228360 | CLN5 disease |
228363 | CLN6 disease |
228366 | CLN7 disease |
228371 | Foodborne botulism |
228374 | Charcot-Marie-Tooth disease type 2B5 |
228379 | Virus-associated trichodysplasia spinulosa |
228384 | 5q14.3 microdeletion syndrome |
228387 | Spondylo-megaepiphyseal-metaphyseal dysplasia |
228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome |
228396 | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
228399 | 8q12 microduplication syndrome |
228402 | 2q23.1 microdeletion syndrome |
228410 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome |
228415 | 5q35 microduplication syndrome |
228423 | GATA2 deficiency spectrum |
228426 | Syndromic multisystem autoimmune disease due to Itch deficiency |
229717 | Isolated agammaglobulinemia |
230800 | Toxin-mediated infectious botulism |
230839 | Classical-like Ehlers-Danlos syndrome type 1 |
230851 | Cardiac-valvular Ehlers-Danlos syndrome |
230857 | Ehlers-Danlos/osteogenesis imperfecta syndrome |
231013 | Congenital trigeminal anesthesia |
231031 | Erythema palmare hereditarium |
231040 | Familial generalized lentiginosis |
231080 | High-grade dysplasia in patients with Barrett esophagus |
231108 | Rhabdoid tumor predisposition syndrome |
231111 | Drug-induced lupus erythematosus |
231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 |
231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation |
231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion |
231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion |
231137 | Silver-Russell syndrome due to 7p11.2p13 microduplication |
231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 |
231144 | Silver-Russell syndrome due to 11p15 microduplication |
231147 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 |
231154 | Combined immunodeficiency due to partial RAG1 deficiency |
231160 | Familial cerebral saccular aneurysm |
231169 | Usher syndrome type 1 |
231178 | Usher syndrome type 2 |
231183 | Usher syndrome type 3 |
231214 | Beta-thalassemia major |
231222 | Beta-thalassemia intermedia |
231226 | Dominant beta-thalassemia |
231237 | Delta-beta-thalassemia |
231242 | Hemoglobin C-beta-thalassemia syndrome |
231249 | Hemoglobin E-beta-thalassemia syndrome |
231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome |
231401 | Alpha-thalassemia-myelodysplastic syndrome |
231426 | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome |
231445 | Paraparetic variant of Guillain-Barré syndrome |
231450 | Acute pure sensory neuropathy |
231457 | Acute pandysautonomia |
231466 | Acute sensory ataxic neuropathy |
231500 | Hermansky-Pudlak syndrome due to BLOC-3 deficiency |
231512 | Hermansky-Pudlak syndrome due to BLOC-2 deficiency |
231531 | Hermansky-Pudlak syndrome due to BLOC-1 deficiency |
231556 | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome |
231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa |
231573 | Congenital erosive and vesicular dermatosis |
231580 | Primary unilateral adrenal hyperplasia |
231625 | Adrenocortical carcinoma with pure aldosterone hypersecretion |
231632 | Ectopic aldosterone-producing tumor |
231662 | Isolated growth hormone deficiency type IA |
231671 | Isolated growth hormone deficiency type IB |
231679 | Isolated growth hormone deficiency type II |
231692 | Isolated growth hormone deficiency type III |
231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome |
231736 | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome |
231742 | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome |
238269 | AApoAII amyloidosis |
238305 | Infundibulo-neurohypophysitis |
238329 | Severe X-linked mitochondrial encephalomyopathy |
238446 | 15q11q13 microduplication syndrome |
238455 | Infantile dystonia-parkinsonism |
238459 | SLC35A1-CDG |
238468 | Hypohidrotic ectodermal dysplasia |
238475 | Familial hypercholanemia |
238505 | Combined immunodeficiency due to CD27 deficiency |
238523 | Atypical hypotonia-cystinuria syndrome |
238557 | Chuvash erythrocytosis |
238569 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
238578 | Familial clubfoot due to 17q23.1q23.2 microduplication |
238583 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
238593 | IgG4-related mesenteritis |
238606 | Primary orthostatic tremor |
238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation |
238621 | Ileal pouch anal anastomosis related faecal incontinence |
238624 | Idiopathic intracranial hypertension |
238637 | Megacystis-megaureter syndrome |
238642 | Primary megaureter, adult-onset form |
238646 | Congenital primary megaureter, obstructed form |
238650 | Congenital primary megaureter, refluxing form |
238654 | Congenital primary megaureter, nonrefluxing and unobstructed form |
238666 | Isolated congenital hypogonadotropic hypogonadism |
238670 | Isolated thyrotropin-releasing hormone deficiency |
238688 | Neonatal iodine exposure |
238722 | Familial congenital mirror movements |
238744 | Mammary-digital-nail syndrome |
238750 | 4q21 microdeletion syndrome |
238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
238769 | 1q44 microdeletion syndrome |
240071 | Classic progressive supranuclear palsy syndrome |
240085 | Progressive supranuclear palsy-predominant parkinsonism syndrome |
240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
240103 | Progressive supranuclear palsy-corticobasal syndrome |
240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome |
240760 | Nijmegen breakage syndrome-like disorder |
243343 | Dimethylglycine dehydrogenase deficiency |
243367 | Acute fatty liver of pregnancy |
244242 | HELLP syndrome |
244275 | De novo thrombotic microangiopathy after kidney transplantation |
244283 | Biliary atresia with splenic malformation syndrome |
244305 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
244310 | RFT1-CDG |
247165 | Infantile mercury poisoning |
247198 | Progressive cerebello-cerebral atrophy |
247203 | Collecting duct carcinoma |
247234 | Sporadic adult-onset ataxia of unknown etiology |
247245 | Superficial siderosis |
247257 | Inhalational anthrax |
247262 | Hyperphosphatasia-intellectual disability syndrome |
247353 | Generalized pustular psoriasis |
247378 | Autosomal recessive secondary polycythemia not associated with VHL gene |
247511 | Autosomal dominant secondary polycythemia |
247522 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome |
247525 | Citrullinemia type I |
247546 | Acute neonatal citrullinemia type I |
247573 | Late-onset citrullinemia type I |
247585 | Citrullinemia type II |
247598 | Neonatal intrahepatic cholestasis due to citrin deficiency |
247604 | Juvenile primary lateral sclerosis |
247623 | Perinatal lethal hypophosphatasia |
247638 | Prenatal benign hypophosphatasia |
247651 | Infantile hypophosphatasia |
247667 | Childhood-onset hypophosphatasia |
247676 | Adult hypophosphatasia |
247685 | Odontohypophosphatasia |
247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
247698 | Multiple endocrine neoplasia type 2A |
247709 | Multiple endocrine neoplasia type 2B |
247718 | Inflammatory myopathy with abundant macrophages |
247724 | Idiopathic eosinophilic myositis |
247762 | Lipoblastoma |
247768 | Müllerian aplasia and hyperandrogenism |
247775 | Mayer-Rokitansky-Küster-Hauser syndrome type 1 |
247790 | FTH1-related iron overload |
247794 | Juvenile cataract-microcornea-renal glucosuria syndrome |
247798 | MUTYH-related attenuated familial adenomatous polyposis |
247806 | APC-related attenuated familial adenomatous polyposis |
247815 | Autosomal recessive ataxia due to PEX10 deficiency |
247820 | Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome |
247827 | Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome |
247834 | Occult macular dystrophy |
247868 | NLRP12-associated hereditary periodic fever syndrome |
248111 | Juvenile Huntington disease |
248340 | Isolated delta-storage pool disease |
248408 | Familial hypodysfibrinogenemia |
250831 | Logopenic progressive aphasia |
250923 | Isolated aniridia |
250932 | Autosomal dominant optic atrophy and peripheral neuropathy |
250972 | Polymicrogyria with optic nerve hypoplasia |
250977 | AICA-ribosiduria |
250984 | Autosomal recessive Stickler syndrome |
250989 | 1q21.1 microdeletion syndrome |
250994 | 1q21.1 microduplication syndrome |
250999 | 1q41q42 microdeletion syndrome |
251004 | Paternal uniparental disomy of chromosome 1 |
251009 | Maternal uniparental disomy of chromosome 1 |
251014 | 2q31.1 microdeletion syndrome |
251019 | 2q32q33 microdeletion syndrome |
251028 | SATB2-associated syndrome due to a chromosomal rearrangement |
251038 | 3q29 microduplication syndrome |
251043 | Ring chromosome 5 syndrome |
251046 | 6p22 microdeletion syndrome |
251056 | 6q25.2q25.3 microdeletion syndrome |
251061 | 7q31 microdeletion syndrome |
251066 | 8p11.2 deletion syndrome |
251071 | 8p23.1 microdeletion syndrome |
251076 | 8p23.1 duplication syndrome |
251262 | Familial osteochondritis dissecans |
251274 | Familial hyperaldosteronism type III |
251279 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
251282 | Autosomal dominant spastic ataxia type 1 |
251287 | Benign concentric annular macular dystrophy |
251290 | Parietal foramina with clavicular hypoplasia |
251295 | Pigmented paravenous retinochoroidal atrophy |
251304 | Infantile onset panniculitis with uveitis and systemic granulomatosis |
251307 | Idiopathic recurrent pericarditis |
251325 | Drug-induced vasculitis |
251328 | Unclassified vasculitis |
251332 | Unexplained long-lasting fever/inflammatory syndrome |
251347 | Ataxia-telangiectasia-like disorder |
251359 | Sickle cell-beta-thalassemia disease syndrome |
251365 | Sickle cell-hemoglobin C disease syndrome |
251370 | Sickle cell-hemoglobin D disease syndrome |
251375 | Sickle cell-hemoglobin E disease syndrome |
251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
251383 | CK syndrome |
251393 | Localized junctional epidermolysis bullosa |
251510 | 46,XY partial gonadal dysgenesis |
251515 | Distal arthrogryposis type 10 |
251523 | Hyperzincemia and hypercalprotectinemia |
251576 | Gliosarcoma |
251579 | Giant cell glioblastoma |
251582 | Gliomatosis cerebri |
251589 | Anaplastic astrocytoma |
251595 | Diffuse astrocytoma |
251598 | Protoplasmic astrocytoma |
251601 | Fibrillary astrocytoma |
251604 | Gemistocytic astrocytoma |
251607 | Pleomorphic xanthoastrocytoma |
251612 | Pilocytic astrocytoma |
251615 | Pilomyxoid astrocytoma |
251618 | Subependymal giant cell astrocytoma |
251623 | Pituicytoma |
251627 | Oligodendroglioma |
251630 | Anaplastic oligodendroglioma |
251636 | Ependymoma |
251639 | Subependymoma |
251643 | Myxopapillary ependymoma |
251646 | Anaplastic ependymoma |
251656 | Oligoastrocytoma |
251663 | Anaplastic oligoastrocytoma |
251671 | Angiocentric glioma |
251674 | Chordoid glioma |
251679 | Astroblastoma |
251855 | Anaplastic/large cell medulloblastoma |
251858 | Medulloblastoma with extensive nodularity |
251863 | Desmoplastic/nodular medulloblastoma |
251867 | Classic medulloblastoma |
251877 | Ganglioneuroblastoma |
251899 | Choroid plexus carcinoma |
251902 | Atypical papilloma of choroid plexus |
251909 | Pineoblastoma |
251912 | Pineocytoma |
251915 | Papillary tumor of the pineal region |
251919 | Pineal parenchymal tumor of intermediate differentiation |
251927 | Extraventricular neurocytoma |
251931 | Cerebellar liponeurocytoma |
251937 | Gangliocytoma |
251940 | Desmoplastic infantile astrocytoma/ganglioglioma |
251946 | Dysembryoplastic neuroepithelial tumor |
251949 | Ganglioglioma |
251957 | Anaplastic ganglioglioma |
251962 | Papillary glioneuronal tumor |
251975 | Rosette-forming glioneuronal tumor |
251992 | Ganglioneuroma |
252006 | Yolk sac tumor of central nervous system |
252015 | Choriocarcinoma of the central nervous system |
252018 | Teratoma of the central nervous system |
252021 | Mixed germ cell tumor of central nervous system |
252031 | Diffuse leptomeningeal melanocytosis |
252046 | Meningeal melanocytoma |
252050 | Primary melanoma of the central nervous system |
252054 | Hemangioblastoma |
252128 | Malignant peripheral nerve sheath tumor with perineurial differentiation |
252164 | Benign schwannoma |
252175 | Vestibular schwannoma |
252183 | Neurofibroma |
252202 | Constitutional mismatch repair deficiency syndrome |
252206 | Melanoma and neural system tumor syndrome |
252212 | Malignant triton tumor |
254334 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
254346 | 19p13.12 microdeletion syndrome |
254351 | Distal 7q11.23 microdeletion syndrome |
254361 | Plectin-related limb-girdle muscular dystrophy R17 |
254379 | Linear lichen planus |
254395 | Actinic lichen planus |
254411 | Annular atrophic lichen planus |
254424 | Annular lichen planus |
254449 | Atrophic lichen planus |
254463 | Lichen planus pigmentosus |
254478 | Lichen planus pemphigoides |
254492 | Frontal fibrosing alopecia |
254504 | Inhalational botulism |
254509 | Iatrogenic botulism |
254516 | Temple syndrome |
254519 | Kagami-Ogata syndrome |
254525 | Temple syndrome due to paternal 14q32.2 microdeletion |
254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion |
254531 | Temple syndrome due to paternal 14q32.2 hypomethylation |
254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation |
254688 | Complete hydatidiform mole |
254693 | Partial hydatidiform mole |
254698 | Epithelioid trophoblastic tumor |
254704 | Genetic hyperferritinemia without iron overload |
254851 | Mitochondrial DNA-related dystonia |
254854 | Pure mitochondrial myopathy |
254857 | Lethal infantile mitochondrial myopathy |
254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
254875 | Mitochondrial DNA depletion syndrome, myopathic form |
254881 | Spinocerebellar ataxia with epilepsy |
254886 | Autosomal recessive progressive external ophthalmoplegia |
254892 | Autosomal dominant progressive external ophthalmoplegia |
254898 | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
254902 | Renal tubulopathy-encephalopathy-liver failure syndrome |
254905 | Isolated cytochrome C oxidase deficiency |
254913 | Isolated ATP synthase deficiency |
254920 | Combined oxidative phosphorylation defect type 2 |
254925 | Combined oxidative phosphorylation defect type 4 |
254930 | Combined oxidative phosphorylation defect type 7 |
255132 | Adult-onset autosomal recessive sideroblastic anemia |
255138 | Pyruvate dehydrogenase E1-beta deficiency |
255182 | Pyruvate dehydrogenase E3-binding protein deficiency |
255210 | Mitochondrial DNA-associated Leigh syndrome |
255229 | Navajo neurohepatopathy |
255235 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy |
260305 | Autosomal recessive sideroblastic anemia |
261102 | Distal 7q11.23 microduplication syndrome |
261112 | Monosomy 9p |
261120 | 14q11.2 microdeletion syndrome |
261144 | FOXG1 syndrome due to 14q12 microdeletion |
261183 | 15q11.2 microdeletion syndrome |
261190 | Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion |
261197 | Proximal 16p11.2 microdeletion syndrome |
261204 | 16p11.2p12.2 microduplication syndrome |
261211 | 16p11.2p12.2 microdeletion syndrome |
261222 | Distal 16p11.2 microdeletion syndrome |
261229 | 14q11.2 microduplication syndrome |
261236 | 16p13.11 microdeletion syndrome |
261243 | 16p13.11 microduplication syndrome |
261250 | 16q24.3 microdeletion syndrome |
261257 | Distal 17p13.3 microdeletion syndrome |
261265 | 17q12 microdeletion syndrome |
261272 | 17q12 microduplication syndrome |
261279 | 17q23.1q23.2 microdeletion syndrome |
261290 | Trisomy 17p |
261295 | 20p12.3 microdeletion syndrome |
261304 | Paternal 20q13.2q13.3 microdeletion syndrome |
261311 | 20q13.33 microdeletion syndrome |
261318 | Trisomy 20p |
261323 | 21q22.11q22.12 microdeletion syndrome |
261330 | Distal 22q11.2 microdeletion syndrome |
261337 | Distal 22q11.2 microduplication syndrome |
261344 | Trisomy 1q |
261349 | 2p15p16.1 microdeletion syndrome |
261476 | Xp21 deletion syndrome |
261483 | Xq27.3q28 duplication syndrome |
261494 | Kleefstra syndrome |
261501 | Atypical Norrie disease due to Xp11.3 microdeletion |
261519 | Maternal uniparental disomy of chromosome X |
261524 | Paternal uniparental disomy of chromosome X |
261529 | Ring chromosome Y syndrome |
261534 | 49,XXXYY syndrome |
261537 | Mowat-Wilson syndrome due to monosomy 2q22 |
261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation |
261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion |
261600 | Alagille syndrome due to 20p12 microdeletion |
261619 | Alagille syndrome due to a JAG1 point mutation |
261629 | Alagille syndrome due to a NOTCH2 point mutation |
261638 | Okihiro syndrome due to 20q13 microdeletion |
261647 | Okihiro syndrome due to a point mutation |
261652 | Kleefstra syndrome due to a point mutation |
263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
263310 | Thymoma type A |
263317 | Thymoma type B |
263324 | Thymoma type AB |
263331 | Well-differentiated thymic neuroendocrine carcinoma |
263335 | Moderately-differentiated thymic neuroendocrine carcinoma |
263339 | Poorly differentiated thymic neuroendocrine carcinoma |
263347 | MRCS syndrome |
263352 | Postcardiotomy right ventricular failure |
263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome |
263413 | Angiosarcoma |
263425 | Nevus of Ota |
263432 | Nevus of Ito |
263435 | Congenital smooth muscle hamartoma |
263455 | Congenital hyperinsulinism due to HNF4A deficiency |
263458 | Hyperinsulinism due to INSR deficiency |
263463 | CHST3-related skeletal dysplasia |
263479 | Fuchs heterochromic iridocyclitis |
263482 | Spondyloepimetaphyseal dysplasia, Maroteaux type |
263487 | COG5-CDG |
263494 | DPM3-CDG |
263501 | COG4-CDG |
263508 | COG1-CDG |
263516 | Progressive myoclonic epilepsy type 3 |
263524 | Acute necrotizing encephalopathy of childhood |
263534 | Acral peeling skin syndrome |
263543 | Generalized peeling skin syndrome |
263548 | Peeling skin syndrome type A |
263553 | Peeling skin syndrome type B |
263662 | Familial multiple meningioma |
263665 | NK-cell enteropathy |
264200 | 14q22q23 microdeletion syndrome |
264450 | Trisomy 8p |
264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency |
264675 | Hereditary pulmonary alveolar proteinosis |
264688 | Congenital chylothorax |
264691 | Isolated pulmonary capillaritis |
264978 | Drug or radiation exposure-related interstitial lung disease |
268114 | RAS-associated autoimmune leukoproliferative disease |
268129 | Spheroid body myopathy |
268139 | Intraocular medulloepithelioma |
268145 | Classic maple syrup urine disease |
268162 | Intermediate maple syrup urine disease |
268173 | Intermittent maple syrup urine disease |
268184 | Thiamine-responsive maple syrup urine disease |
268249 | Mycophenolate mofetil embryopathy |
268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
268316 | Complication in hemodialysis |
268322 | Hereditary thrombocytopenia with normal platelets |
268363 | Open iniencephaly |
268366 | Closed iniencephaly |
268810 | Isolated posterior meningocele |
268820 | Cranial meningocele |
268823 | Occipital encephalocele |
268826 | Parietal encephalocele |
268829 | Basal encephalocele |
268861 | Primary tethered cord syndrome |
268865 | Neurenteric cyst |
268868 | Isolated amyelia |
268882 | Arnold-Chiari malformation type I |
268920 | Isolated megalencephaly |
268936 | Isolated arhinencephaly |
268940 | Bilateral polymicrogyria |
268943 | Unilateral polymicrogyria |
268947 | Unilateral focal polymicrogyria |
268961 | Isolated focal cortical dysplasia type I |
268973 | Isolated focal cortical dysplasia type Ia |
268980 | Isolated focal cortical dysplasia type Ib |
268987 | Isolated focal cortical dysplasia type Ic |
268994 | Isolated focal cortical dysplasia type II |
269001 | Isolated focal cortical dysplasia type IIa |
269008 | Isolated focal cortical dysplasia type IIb |
269197 | Glioependymal/ependymal cyst |
269203 | Isolated cerebellar vermis agenesis |
269206 | Isolated total cerebellar vermis agenesis |
269209 | Isolated partial cerebellar vermis agenesis |
269212 | Isolated Dandy-Walker malformation with hydrocephalus |
269215 | Isolated Dandy-Walker malformation without hydrocephalus |
269218 | Isolated unilateral hemispheric cerebellar hypoplasia |
269221 | Isolated bilateral hemispheric cerebellar hypoplasia |
269229 | Pontine tegmental cap dysplasia |
269505 | Congenital communicating hydrocephalus |
269510 | Congenital non-communicating hydrocephalus |
271861 | Hereditary ATTR amyloidosis |
275517 | Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency |
275523 | Dianzani autoimmune lymphoproliferative disease |
275543 | L1 syndrome |
275555 | Preeclampsia |
275761 | Lysosomal acid lipase deficiency |
275766 | Idiopathic pulmonary arterial hypertension |
275777 | Heritable pulmonary arterial hypertension |
275864 | Behavioral variant of frontotemporal dementia |
275872 | Frontotemporal dementia with motor neuron disease |
275944 | Hemolytic disease of the newborn with Kell alloimmunization |
276066 | Bile acid CoA ligase deficiency and defective amidation |
276145 | Malignant epithelial tumor of salivary glands |
276148 | Benign epithelial tumor of salivary glands |
276152 | Multiple endocrine neoplasia type 4 |
276174 | Idiopathic recurrent stupor |
276183 | Spinocerebellar ataxia type 32 |
276193 | Spinocerebellar ataxia type 35 |
276198 | Spinocerebellar ataxia type 36 |
276212 | Mucopolysaccharidosis type 6, rapidly progressing |
276223 | Mucopolysaccharidosis type 6, slowly progressing |
276234 | Non-syndromic male infertility due to sperm motility disorder |
276238 | Machado-Joseph disease type 1 |
276241 | Machado-Joseph disease type 2 |
276244 | Machado-Joseph disease type 3 |
276280 | Hemihyperplasia-multiple lipomatosis syndrome |
276399 | Familial multinodular goiter |
276405 | Hyperbiliverdinemia |
276413 | 10q22.3q23.3 microdeletion syndrome |
276422 | 10q22.3q23.3 microduplication syndrome |
276429 | Hypnic headache |
276432 | Ogden syndrome |
276435 | Lower motor neuron syndrome with late-adult onset |
276556 | Hyperinsulinism due to UCP2 deficiency |
276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency |
276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
276598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
276608 | Non-insulinoma pancreatogenous hypoglycemia syndrome |
276621 | Sporadic pheochromocytoma/secreting paraganglioma |
276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers |
279882 | Spasmus nutans |
279888 | Acute endophthalmitis |
279891 | Chronic endophthalmitis |
279894 | Toxic maculopathy due to antimalarial drugs |
279897 | Primary oculocerebral lymphoma |
279904 | Primary intraocular lymphoma |
279914 | Intermediate uveitis |
279919 | Infectious posterior uveitis |
279922 | Infectious anterior uveitis |
279925 | Infectious panuveitis |
279928 | Paraneoplastic uveitis |
279934 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
279943 | Hereditary neutrophilia |
279947 | Postorgasmic illness syndrome |
280062 | Calciphylaxis |
280065 | Calciphylaxis cutis |
280068 | Visceral calciphylaxis |
280071 | ALG11-CDG |
280133 | Complement component 3 deficiency |
280142 | Severe combined immunodeficiency due to LCK deficiency |
280183 | Methylmalonic aciduria due to transcobalamin receptor defect |
280195 | Septopreoptic holoprosencephaly |
280200 | Microform holoprosencephaly |
280205 | Laryngotracheoesophageal cleft type 0 |
280210 | Pelizaeus-Merzbacher disease, connatal form |
280219 | Pelizaeus-Merzbacher disease, classic form |
280224 | Pelizaeus-Merzbacher disease, transitional form |
280229 | Pelizaeus-Merzbacher disease in female carriers |
280234 | Null syndrome |
280270 | Pelizaeus-Merzbacher-like disease |
280282 | Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
280288 | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation |
280293 | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation |
280302 | Autoimmune pancreatitis type 1 |
280315 | Autoimmune pancreatitis type 2 |
280325 | Distal deletion 12p |
280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 |
280356 | PLIN1-related familial partial lipodystrophy |
280365 | Autosomal semi-dominant severe lipodystrophic laminopathy |
280379 | Erythropoietic uroporphyria associated with myeloid malignancy |
280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
280397 | Familial Alzheimer-like prion disease |
280403 | Familial omphalocele syndrome with facial dysmorphism |
280406 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
280553 | Fatal infantile hypertonic myofibrillar myopathy |
280558 | Warsaw breakage syndrome |
280576 | Nestor-Guillermo progeria syndrome |
280586 | Chondrodysplasia with joint dislocations, gPAPP type |
280598 | Hereditary sensorimotor neuropathy with hyperelastic skin |
280615 | Hemoglobinopathy Toms River |
280620 | Progressive myoclonic epilepsy type 6 |
280628 | Familial progressive hyper- and hypopigmentation |
280633 | Multiple congenital anomalies-hypotonia-seizures syndrome |
280640 | Occipital pachygyria and polymicrogyria |
280654 | Autosomal recessive nail dysplasia |
280671 | Megaconial congenital muscular dystrophy |
280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome |
280763 | Severe intellectual disability and progressive spastic paraplegia |
280774 | Generalized essential telangiectasia |
280779 | Cutaneous collagenous vasculopathy |
280785 | Bullous diffuse cutaneous mastocytosis |
280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis |
280802 | Intralobar congenital pulmonary sequestration |
280811 | Extralobar congenital pulmonary sequestration |
280821 | Communicating congenital bronchopulmonary-foregut malformation |
280827 | Congenital pulmonary airway malformation type 0 |
280832 | Congenital pulmonary airway malformation type 1 |
280840 | Congenital pulmonary airway malformation type 2 |
280847 | Congenital pulmonary airway malformation type 3 |
280854 | Congenital pulmonary airway malformation type 4 |
280917 | Idiopathic posterior uveitis |
280921 | Idiopathic panuveitis |
281090 | Syndromic recessive X-linked ichthyosis |
281122 | Self-improving collodion baby |
281127 | Acral self-healing collodion baby |
281139 | Annular epidermolytic ichthyosis |
281190 | Congenital reticular ichthyosiform erythroderma |
281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
282166 | Inherited Creutzfeldt-Jakob disease |
284139 | Larsen-like syndrome, B3GAT3 type |
284149 | Craniosynostosis-dental anomalies |
284160 | 8q21.11 microdeletion syndrome |
284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
284180 | Xp22.13p22.2 duplication syndrome |
284227 | TEMPI syndrome |
284232 | Autosomal dominant Charcot-Marie-Tooth disease type 2O |
284247 | Familial retinal arterial macroaneurysm |
284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
284282 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency |
284289 | Adult-onset autosomal recessive cerebellar ataxia |
284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
284332 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia |
284339 | Pontocerebellar hypoplasia type 7 |
284343 | DICER1 tumor-predisposition syndrome |
284362 | Fetal lung interstitial tumor |
284388 | Reversible cerebral vasoconstriction syndrome |
284395 | Well-differentiated fetal adenocarcinoma of the lung |
284400 | Small cell carcinoma of the bladder |
284411 | Glycerol kinase deficiency, juvenile form |
284414 | Glycerol kinase deficiency, adult form |
284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form |
284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
284435 | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
284448 | CLIPPERS |
284454 | Acute zonal occult outer retinopathy |
284460 | Acute annular outer retinopathy |
284963 | Marfan syndrome type 1 |
284973 | Marfan syndrome type 2 |
284979 | Neonatal Marfan syndrome |
284984 | Aneurysm-osteoarthritis syndrome |
289157 | Hypocalcemic vitamin D-dependent rickets |
289176 | Autosomal recessive hypophosphatemic rickets |
289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation |
289290 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency |
289307 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
289326 | Tropical spastic paraparesis |
289347 | Infective dermatitis associated with HTLV-1 |
289356 | Primary non-gestational choriocarcinoma of ovary |
289362 | Non-central nervous system-localized embryonal carcinoma |
289365 | Familial vesicoureteral reflux |
289377 | Early-onset myopathy with fatal cardiomyopathy |
289380 | Myosclerosis |
289385 | Malignancy diagnosed during pregnancy |
289390 | Primary Sjögren syndrome |
289465 | Isolated congenital adermatoglyphia |
289478 | PASH syndrome |
289483 | Intellectual disability-alacrima-achalasia syndrome |
289494 | 4H leukodystrophy |
289499 | Congenital cataract microcornea with corneal opacity |
289504 | Combined malonic and methylmalonic acidemia |
289513 | 12q15q21.1 microdeletion syndrome |
289522 | Microtriplication 11q24.1 |
289539 | BAP1-related tumor predisposition syndrome |
289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency |
289553 | Dysmorphism-conductive hearing loss-heart defect syndrome |
289560 | Mitochondrial membrane protein-associated neurodegeneration |
289586 | Exfoliative ichthyosis |
289596 | Juvenile nasopharyngeal angiofibroma |
289601 | Hereditary arterial and articular multiple calcification syndrome |
289661 | Epstein-Barr virus-positive diffuse large B-cell lymphoma |
289666 | Plasmablastic lymphoma |
289682 | Lymphoepithelial-like carcinoma |
289685 | Myopericytoma |
289846 | Glutathione synthetase deficiency with 5-oxoprolinuria |
289849 | Glutathione synthetase deficiency without 5-oxoprolinuria |
289857 | Neonatal glycine encephalopathy |
289860 | Infantile glycine encephalopathy |
289863 | Atypical glycine encephalopathy |
289877 | Transient hyperammonemia of the newborn |
289891 | Hypermethioninemia due to glycine N-methyltransferase deficiency |
289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 |
293144 | Familial clubfoot due to 5q31 microdeletion |
293150 | Familial clubfoot due to PITX1 point mutation |
293165 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
293168 | Infantile-onset ascending hereditary spastic paralysis |
293173 | Acute generalized exanthematous pustulosis |
293181 | Malignant migrating focal seizures of infancy |
293199 | Pleomorphic rhabdomyosarcoma |
293202 | Epithelioid sarcoma |
293208 | Celiac artery compression syndrome |
293284 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria |
293375 | Grayson-Wilbrandt corneal dystrophy |
293381 | Epithelial recurrent erosion dystrophy |
293462 | Pre-Descemet corneal dystrophy |
293603 | Congenital hereditary endothelial dystrophy type II |
293621 | X-linked endothelial corneal dystrophy |
293633 | PYCR1-related De Barsy syndrome |
293707 | Blepharophimosis-intellectual disability syndrome, MKB type |
293725 | Blepharophimosis-intellectual disability syndrome, Verloes type |
293807 | Ketamine-induced biliary dilatation |
293812 | Fixed drug eruption |
293822 | MITF-related melanoma and renal cell carcinoma predisposition syndrome |
293825 | Congenital dyserythropoietic anemia type IV |
293843 | 3MC syndrome |
293864 | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome |
293888 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant |
293899 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant |
293910 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant |
293925 | Lethal occipital encephalocele-skeletal dysplasia syndrome |
293936 | EDICT syndrome |
293939 | Distal Xq28 microduplication syndrome |
293948 | 1p21.3 microdeletion syndrome |
293955 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
293958 | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy |
293967 | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome |
293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome |
293987 | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome |
294016 | Microcephaly-capillary malformation syndrome |
294023 | Neonatal inflammatory skin and bowel disease |
294026 | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication |
294415 | Renal-hepatic-pancreatic dysplasia |
294422 | Chronic intestinal failure |
294967 | Isolated amelia of upper limb |
294969 | Isolated amelia of lower limb |
294971 | Isolated tetra-amelia |
294973 | Isolated humeral agenesis/hypoplasia |
294975 | Isolated absence of upper arm and forearm with hand present |
294977 | Isolated absence of thigh and lower leg with foot present |
294979 | Isolated absence of both forearm and hand |
294981 | Isolated absence of both lower leg and foot |
294983 | Isolated acheiria |
294986 | Isolated apodia |
294988 | Isolated hypoplasia of thumb |
295000 | Amniotic band syndrome |
295002 | Isolated hyperphalangy |
295004 | Central polydactyly |
295012 | Syndactyly type 6 |
295014 | Familial isolated clinodactyly of fingers |
295016 | Camptodactyly of fingers |
295018 | Congenital pseudoarthrosis of the tibia |
295020 | Congenital pseudoarthrosis of the femur |
295022 | Congenital pseudoarthrosis of the fibula |
295024 | Congenital pseudoarthrosis of the radius |
295026 | Congenital pseudoarthrosis of the ulna |
295028 | Isolated tibio-fibular synostosis |
295030 | True congenital shoulder dislocation |
295032 | Isolated congenital radial head dislocation |
295034 | Congenital knee dislocation |
295036 | Congenital patella dislocation |
295044 | Macrodactyly of fingers |
295047 | Macrodactyly of toes |
295049 | Upper limb hypertrophy |
295051 | Lower limb hypertrophy |
295187 | Zygodactyly type 1 |
295189 | Zygodactyly type 2 |
295191 | Zygodactyly type 3 |
295193 | Zygodactyly type 4 |
295195 | Synpolydactyly type 1 |
295197 | Synpolydactyly type 2 |
295199 | Synpolydactyly type 3 |
295201 | Congenital vertical talus, unilateral |
295203 | Congenital vertical talus, bilateral |
295225 | Congenital elbow dislocation, unilateral |
295227 | Congenital elbow dislocation, bilateral |
295229 | Congenital genu recurvatum |
295232 | Congenital genu flexum |
295239 | Macrodactyly of fingers, unilateral |
295241 | Macrodactyly of fingers, bilateral |
295243 | Macrodactyly of toes, unilateral |
295245 | Macrodactyly of toes, bilateral |
300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
300284 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
300293 | Transient infantile hypertriglyceridemia and hepatosteatosis |
300298 | Severe congenital hypochromic anemia with ringed sideroblasts |
300305 | 11p15.4 microduplication syndrome |
300313 | Congenital cataract-hearing loss-severe developmental delay syndrome |
300319 | Charcot-Marie-Tooth disease type 2P |
300324 | Persistent polyclonal B-cell lymphocytosis |
300333 | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome |
300345 | Autosomal systemic lupus erythematosus |
300359 | PLCG2-associated antibody deficiency and immune dysregulation |
300373 | X-linked acrogigantism |
300382 | Progeroid and marfanoid aspect-lipodystrophy syndrome |
300385 | Pituitary carcinoma |
300493 | Sagliker syndrome |
300496 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
300501 | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome |
300504 | Onychocytic matricoma |
300512 | Onychomatricoma |
300525 | Pseudohypoaldosteronism type 2D |
300530 | Pseudohypoaldosteronism type 2E |
300536 | DDOST-CDG |
300547 | Autosomal recessive infantile hypercalcemia |
300552 | Follicular cholangitis and pancreatitis |
300557 | Carcinoma of the ampulla of Vater |
300564 | Combined pulmonary fibrosis-emphysema syndrome |
300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
300573 | Polymicrogyria due to TUBB2B mutation |
300576 | Oligodontia-cancer predisposition syndrome |
300605 | Juvenile amyotrophic lateral sclerosis |
300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
300849 | Diffuse large B-cell lymphoma of the central nervous system |
300857 | T-cell/histiocyte rich large B cell lymphoma |
300865 | Primary cutaneous anaplastic large cell lymphoma |
300869 | Splenic diffuse red pulp small B-cell lymphoma |
300878 | Hairy cell leukemia variant |
300888 | Diffuse large B-cell lymphoma with chronic inflammation |
300895 | ALK-positive anaplastic large cell lymphoma |
300903 | ALK-negative anaplastic large cell lymphoma |
306431 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies |
306504 | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome |
306511 | Autosomal recessive spastic paraplegia type 48 |
306516 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis |
306527 | Isolated hereditary congenital facial paralysis |
306530 | Congenital hereditary facial paralysis-variable hearing loss syndrome |
306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
306547 | Porencephaly-microcephaly-bilateral congenital cataract syndrome |
306550 | FADD-related immunodeficiency |
306553 | Myospherulosis |
306558 | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
306577 | Hereditary sodium channelopathy-related small fibers neuropathy |
306617 | X-linked complicated spastic paraplegia type 1 |
306644 | Complication after organ transplantation |
306658 | Familial normophosphatemic tumoral calcinosis |
306661 | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome |
306669 | Hemiparkinsonism-hemiatrophy syndrome |
306674 | Kufor-Rakeb syndrome |
306682 | Manganese poisoning |
306686 | Delayed encephalopathy due to carbon monoxide poisoning |
306692 | Cyanide-induced parkinsonism-dystonia |
306731 | Sydenham chorea |
306734 | Primary dystonia, DYT21 type |
306741 | Hemidystonia-hemiatrophy syndrome |
306776 | Sporadic hyperekplexia |
307766 | Curly hair-acral keratoderma-caries syndrome |
307936 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome |
308013 | Focal acral hyperkeratosis |
308380 | Methylcobalamin deficiency type cblDv1 |
308386 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
308393 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
308400 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |
308410 | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
308425 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
308442 | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 |
308473 | Erythrocyte galactose epimerase deficiency |
308487 | Generalized galactose epimerase deficiency |
308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset |
308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form |
308655 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form |
308670 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form |
308684 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form |
308698 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form |
308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form |
309015 | Familial lipoprotein lipase deficiency |
309020 | Familial apolipoprotein C-II deficiency |
309025 | Mevalonate kinase deficiency |
309031 | Pancreatic triacylglycerol lipase deficiency |
309108 | Pancreatic colipase deficiency |
309111 | Combined pancreatic lipase-colipase deficiency |
309147 | Hyper-beta-alaninemia |
309155 | Sandhoff disease, infantile form |
309162 | Sandhoff disease, juvenile form |
309169 | Sandhoff disease, adult form |
309178 | Tay-Sachs disease, infantile form |
309185 | Tay-Sachs disease, juvenile form |
309192 | Tay-Sachs disease, adult form |
309246 | GM2 gangliosidosis, AB variant |
309252 | Atypical Gaucher disease due to saposin C deficiency |
309256 | Metachromatic leukodystrophy, late infantile form |
309263 | Metachromatic leukodystrophy, juvenile form |
309271 | Metachromatic leukodystrophy, adult form |
309282 | Alpha-mannosidosis, infantile form |
309288 | Alpha-mannosidosis, adult form |
309297 | Mucopolysaccharidosis type 4A |
309310 | Mucopolysaccharidosis type 4B |
309324 | Free sialic acid storage disease, infantile form |
309331 | Intermediate severe Salla disease |
309334 | Salla disease |
309789 | Rhizomelic chondrodysplasia punctata type 1 |
309796 | Rhizomelic chondrodysplasia punctata type 2 |
309803 | Rhizomelic chondrodysplasia punctata type 3 |
309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome |
313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome |
313781 | 20p13 microdeletion syndrome |
313795 | Jawad syndrome |
313800 | Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
313808 | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
313838 | Coats plus syndrome |
313846 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome |
313850 | Infantile cerebellar-retinal degeneration |
313855 | FGFR2-related bent bone dysplasia |
313884 | 12p12.1 microdeletion syndrome |
313892 | Developmental and speech delay due to SOX5 deficiency |
313906 | Congenital pancreatic cyst |
313920 | Epstein-Barr virus-associated gastric carcinoma |
313936 | PENS syndrome |
313947 | 2q23.1 microduplication syndrome |
314002 | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome |
314017 | Idiopathic linear interstitial keratitis |
314022 | Gastric adenocarcinoma and proximal polyposis of the stomach |
314029 | High bone mass osteogenesis imperfecta |
314034 | 7p22.1 microduplication syndrome |
314041 | Marfanoid habitus-inguinal hernia-advanced bone age syndrome |
314051 | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
314373 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity |
314376 | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
314381 | Hereditary sensory and autonomic neuropathy type 6 |
314389 | Xq12-q13.3 duplication syndrome |
314394 | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
314399 | Autosomal dominant aplasia and myelodysplasia |
314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
314419 | Ameloblastoma |
314422 | Ameloblastic carcinoma |
314432 | Spigelian hernia-cryptorchidism syndrome |
314451 | Meigs syndrome |
314459 | Pseudo-Meigs syndrome |
314466 | Atypical Meigs syndrome |
314473 | Ovarian fibroma |
314478 | Ovarian fibrothecoma |
314485 | Young adult-onset distal hereditary motor neuropathy |
314555 | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome |
314566 | Primary progressive apraxia of speech |
314572 | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
314575 | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome |
314585 | 15q overgrowth syndrome |
314588 | Distal triplication 15q |
314597 | Chudley-McCullough syndrome |
314603 | Autosomal recessive spastic ataxia with leukoencephalopathy |
314613 | Growing teratoma syndrome |
314621 | Duplication of the pituitary gland |
314629 | CLN11 disease |
314632 | CLN12 disease |
314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
314647 | Non-progressive cerebellar ataxia with intellectual disability |
314652 | Variant ABeta2M amyloidosis |
314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
314662 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
314667 | TMEM165-CDG |
314679 | Cerebrofacioarticular syndrome |
314684 | Primary bone lymphoma |
314689 | Combined immunodeficiency due to STK4 deficiency |
314697 | Acquired porencephaly |
314701 | Primary systemic amyloidosis |
314709 | Primary localized amyloidosis |
314718 | Lethal arteriopathy syndrome due to fibulin-4 deficiency |
314721 | Atypical dentin dysplasia due to SMOC2 deficiency |
314769 | Somatomammotropinoma |
314777 | Familial isolated pituitary adenoma |
314786 | Silent pituitary adenoma |
314790 | Null pituitary adenoma |
314795 | SHOX-related short stature |
314802 | Short stature due to partial GHR deficiency |
314811 | Short stature due to GHSR deficiency |
314889 | Autosomal dominant proximal renal tubular acidosis |
314911 | Severe Canavan disease |
314918 | Mild Canavan disease |
314950 | Primary hypereosinophilic syndrome |
314962 | Secondary hypereosinophilic syndrome |
314970 | Lymphocytic hypereosinophilic syndrome |
314978 | X-linked non progressive cerebellar ataxia |
314993 | Cataract-congenital heart disease-neural tube defect syndrome |
315306 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
315311 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
317425 | Severe combined immunodeficiency due to DNA-PKcs deficiency |
317428 | Combined immunodeficiency due to ORAI1 deficiency |
317430 | Combined immunodeficiency due to STIM1 deficiency |
317473 | Pancytopenia due to IKZF1 mutations |
317476 | XMEN |
319160 | Congenital myopathy with internal nuclei and atypical cores |
319171 | Distal 17p13.1 microdeletion syndrome |
319182 | Wiedemann-Steiner syndrome |
319189 | Familial cortical myoclonus |
319192 | Diencephalic-mesencephalic junction dysplasia |
319195 | Chondroectodermal dysplasia with night blindness |
319199 | Autosomal recessive spastic paraplegia type 53 |
319205 | Bilateral massive adrenal hemorrhage |
319213 | Lujo hemorrhagic fever |
319218 | Ebola hemorrhagic fever |
319223 | Argentine hemorrhagic fever |
319229 | Bolivian hemorrhagic fever |
319234 | Venezuelan hemorrhagic fever |
319239 | Brazilian hemorrhagic fever |
319244 | Chapare hemorrhagic fever |
319247 | Hantavirus pulmonary syndrome |
319251 | Rift valley fever |
319254 | Kyasanur forest disease |
319266 | Omsk hemorrhagic fever |
319276 | Clear cell renal carcinoma |
319287 | Multilocular cystic renal neoplasm of low malignant potential |
319298 | Papillary renal cell carcinoma |
319303 | Chromophobe renal cell carcinoma |
319308 | MiT family translocation renal cell carcinoma |
319319 | Renal medullary carcinoma |
319322 | Mucinous tubular and spindle cell renal carcinoma |
319325 | Tubulocystic renal cell carcinoma |
319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita |
319340 | Carney complex-trismus-pseudocamptodactyly syndrome |
319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
319465 | Inherited acute myeloid leukemia |
319480 | Acute myeloid leukemia with CEBPA somatic mutations |
319487 | Familial papillary or follicular thyroid carcinoma |
319504 | Combined oxidative phosphorylation defect type 8 |
319509 | Combined oxidative phosphorylation defect type 9 |
319514 | Combined oxidative phosphorylation defect type 13 |
319519 | Combined oxidative phosphorylation defect type 14 |
319524 | Combined oxidative phosphorylation defect type 15 |
319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
319558 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
319563 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
319569 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
319581 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
319589 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
319595 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency |
319605 | X-linked mendelian susceptibility to mycobacterial diseases |
319612 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency |
319623 | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
319635 | Amyloidosis cutis dyschromia |
319640 | Retinal macular dystrophy type 2 |
319646 | PGM1-CDG |
319651 | Constitutional megaloblastic anemia with severe neurologic disease |
319667 | Primary lymphoma of the conjunctiva |
319671 | Alazami syndrome |
319675 | Microcephalic primordial dwarfism, Dauber type |
319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
320355 | Autosomal dominant spastic paraplegia type 41 |
320360 | MT-ATP6-related mitochondrial spastic paraplegia |
320365 | Autosomal dominant spastic paraplegia type 36 |
320370 | Autosomal recessive spastic paraplegia type 43 |
320375 | Autosomal recessive spastic paraplegia type 55 |
320380 | Autosomal recessive spastic paraplegia type 54 |
320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
320391 | Autosomal recessive spastic paraplegia type 46 |
320396 | Autosomal recessive spastic paraplegia type 45 |
320401 | Autosomal recessive spastic paraplegia type 44 |
320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome |
320411 | Autosomal recessive spastic paraplegia type 56 |
324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency |
324290 | Early-onset Lafora body disease |
324294 | T-cell immunodeficiency with epidermodysplasia verruciformis |
324299 | Multiple paragangliomas associated with polycythemia |
324307 | Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome |
324313 | 9p13 microdeletion syndrome |
324321 | Sinoatrial node dysfunction and deafness |
324353 | Congenital achiasma |
324364 | Mixed sclerosing bone dystrophy with extra-skeletal manifestations |
324381 | Hereditary inclusion body myopathy type 4 |
324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
324416 | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome |
324422 | ALG13-CDG |
324442 | Autosomal recessive axonal neuropathy with neuromyotonia |
324525 | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation |
324530 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
324535 | Combined oxidative phosphorylation defect type 11 |
324540 | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome |
324561 | Hypopigmentation-punctate palmoplantar keratoderma syndrome |
324569 | Pontocerebellar hypoplasia type 8 |
324575 | Hyperinsulinism due to HNF1A deficiency |
324581 | Benign Samaritan congenital myopathy |
324585 | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain |
324588 | Familial dyskinesia and facial myokymia |
324601 | X-linked cleft palate and ankyloglossia |
324604 | Classic multiminicore myopathy |
324611 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation |
324625 | Chikungunya |
324632 | Hendra virus infection |
324636 | Autoerythrocyte sensitization syndrome |
324648 | Invasive non-typhoidal salmonellosis |
324703 | ABetaL34V amyloidosis |
324708 | ABeta amyloidosis, Iowa type |
324713 | ABeta amyloidosis, Italian type |
324718 | ABetaA21G amyloidosis |
324723 | ABeta amyloidosis, Arctic type |
324737 | SRD5A3-CDG |
324964 | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis |
324972 | MAGIC syndrome |
324977 | Proteasome-associated autoinflammatory syndrome |
325124 | Testicular agenesis |
325345 | 46,XY ovotesticular difference of sex development |
325448 | Leydig cell hypoplasia due to LHB deficiency |
325524 | Classic congenital lipoid adrenal hyperplasia due to STAR deficency |
325529 | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
329173 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
329191 | Tall stature-long halluces-multiple extra-epiphyses syndrome |
329195 | Developmental delay with autism spectrum disorder and gait instability |
329211 | Autosomal dominant neovascular inflammatory vitreoretinopathy |
329217 | Cerebral sinovenous thrombosis |
329224 | Schuurs-Hoeijmakers syndrome |
329228 | Microcephalic primordial dwarfism due to ZNF335 deficiency |
329235 | X-linked central congenital hypothyroidism with late-onset testicular enlargement |
329242 | Congenital chronic diarrhea with protein-losing enteropathy |
329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
329258 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
329284 | Beta-propeller protein-associated neurodegeneration |
329308 | Fatty acid hydroxylase-associated neurodegeneration |
329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency |
329319 | Thrombocythemia with distal limb defects |
329324 | Inverse Klippel-Trénaunay syndrome |
329329 | Autosomal recessive frontotemporal pachygyria |
329332 | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome |
329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
329457 | Distal arthrogryposis type 5D |
329466 | Autosomal dominant focal dystonia, DYT25 type |
329469 | Acute megakaryoblastic leukemia in children without Down syndrome |
329475 | Spastic paraplegia-Paget disease of bone syndrome |
329478 | Adult-onset distal myopathy due to VCP mutation |
329481 | Lipoprotein glomerulopathy |
329802 | 5p13 microduplication syndrome |
329813 | Mosaic genome-wide paternal uniparental disomy |
329874 | Idiopathic giant cell myocarditis |
329883 | Non-hypoproteinemic hypertrophic gastropathy |
329894 | Juvenile overlap myositis |
329903 | Immunoglobulin-mediated membranoproliferative glomerulonephritis |
329918 | C3 glomerulopathy |
329931 | C3 glomerulonephritis |
329942 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency |
329967 | Intermittent hydrarthrosis |
329971 | Generalized juvenile polyposis/juvenile polyposis coli |
329977 | Classic neuroendocrine tumor of appendix |
329984 | Goblet cell carcinoma |
330001 | Wild type ATTR amyloidosis |
330012 | High altitude pulmonary edema |
330015 | Lead poisoning |
330021 | Mercury poisoning |
330029 | Hypotrichosis-deafness syndrome |
330032 | Hemoglobin Lepore-beta-thalassemia syndrome |
330041 | Hemoglobin M disease |
330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
330058 | Hydroa vacciniforme |
330061 | Actinic prurigo |
330064 | Chronic actinic dermatitis |
331176 | Severe congenital neutropenia due to G6PC3 deficiency |
331187 | Immunodeficiency due to MASP-2 deficiency |
331190 | Immunodeficiency due to ficolin3 deficiency |
331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency |
331226 | Susceptibility to infection due to TYK2 deficiency |
331235 | Selective IgM deficiency |
352328 | MEGDEL syndrome |
352333 | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
352403 | Spectrin-associated autosomal recessive cerebellar ataxia |
352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome |
352470 | DNA2-related mitochondrial DNA deletion syndrome |
352479 | ISPD-related limb-girdle muscular dystrophy R20 |
352490 | Autism spectrum disorder due to AUTS2 deficiency |
352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
352540 | Oncogenic osteomalacia |
352563 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
352577 | Bainbridge-Ropers syndrome |
352582 | Familial infantile myoclonic epilepsy |
352587 | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
352596 | Progressive myoclonic epilepsy with dystonia |
352629 | 16q24.1 microdeletion syndrome |
352636 | Phalangeal microgeodic syndrome |
352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity |
352649 | Brain dopamine-serotonin vesicular transport disease |
352654 | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
352657 | Hereditary benign intraepithelial dyskeratosis |
352662 | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion |
352670 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F |
352675 | X-linked Charcot-Marie-Tooth disease type 6 |
352682 | Cobblestone lissencephaly without muscular or ocular involvement |
352709 | CLN13 disease |
352712 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
352718 | Progressive retinal dystrophy due to retinol transport defect |
352723 | Attenuated Chédiak-Higashi syndrome |
352731 | Oculocutaneous albinism type 1 |
352734 | Minimal pigment oculocutaneous albinism type 1 |
352737 | Temperature-sensitive oculocutaneous albinism type 1 |
352745 | Oculocutaneous albinism type 7 |
352763 | Scleredema |
353217 | Epileptic encephalopathy with global cerebral demyelination |
353220 | Familial primary localized cutaneous amyloidosis |
353253 | Burning mouth syndrome |
353277 | Rubinstein-Taybi syndrome due to CREBBP mutations |
353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
353298 | Roifman syndrome |
353308 | Pyruvate carboxylase deficiency, infantile type |
353314 | Pyruvate carboxylase deficiency, severe neonatal type |
353320 | Pyruvate carboxylase deficiency, benign type |
353327 | Congenital myasthenic syndromes with glycosylation defect |
353334 | Congenital retinal arteriovenous communication |
353344 | Idiopathic macular telangiectasia type 1 |
353351 | Idiopathic macular telangiectasia type 3 |
353356 | Vasoproliferative tumor of the retina |
356947 | 3q26q27 microdeletion syndrome |
356961 | SLC35A2-CDG |
356978 | D,L-2-hydroxyglutaric aciduria |
356996 | ANK3-related intellectual disability-sleep disturbance syndrome |
357001 | 19p13.13 microdeletion syndrome |
357008 | Hemolytic uremic syndrome with DGKE deficiency |
357027 | Hereditary retinoblastoma |
357034 | Non-hereditary retinoblastoma |
357043 | Amyotrophic lateral sclerosis type 4 |
357058 | Autosomal recessive cutis laxa type 2A |
357064 | Autosomal recessive cutis laxa type 2B |
357074 | Autosomal recessive cutis laxa type 2, classic type |
357107 | Arterial thoracic outlet syndrome |
357131 | Venous thoracic outlet syndrome |
357154 | Oral submucous fibrosis |
357158 | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome |
357175 | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome |
357220 | Primary essential cutis verticis gyrata |
357225 | Primary non-essential cutis verticis gyrata |
357237 | Combined immunodeficiency due to CARD11 deficiency |
357329 | Combined immunodeficiency due to IL21R deficiency |
357332 | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome |
363396 | High myopia-sensorineural deafness syndrome |
363400 | Severe neurodegenerative syndrome with lipodystrophy |
363409 | Fetal akinesia-cerebral and retinal hemorrhage syndrome |
363412 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
363417 | Temtamy preaxial brachydactyly syndrome |
363424 | Multiple mitochondrial dysfunctions syndrome type 3 |
363429 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency |
363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
363447 | Autosomal dominant childhood-onset proximal spinal muscular atrophy |
363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
363478 | Paratesticular adenocarcinoma |
363483 | Testicular teratoma |
363489 | Sex cord-stromal tumor of testis |
363494 | Non-seminomatous germ cell tumor of testis |
363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
363528 | Intellectual disability-strabismus syndrome |
363534 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form |
363540 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion |
363558 | New-onset refractory status epilepticus |
363611 | CTCF-related neurodevelopmental disorder |
363618 | LMNA-related cardiocutaneous progeria syndrome |
363623 | GMPPB-related limb-girdle muscular dystrophy R19 |
363649 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
363654 | X-linked parkinsonism-spasticity syndrome |
363659 | 20q11.2 microduplication syndrome |
363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome |
363677 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
363680 | 2p13.2 microdeletion syndrome |
363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
363694 | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
363705 | Craniofaciofrontodigital syndrome |
363710 | Spinocerebellar ataxia type 37 |
363717 | Alexander disease type I |
363722 | Alexander disease type II |
363727 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
363741 | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome |
363746 | Balint syndrome |
363958 | 17q21.31 microdeletion syndrome |
363965 | Koolen-De Vries syndrome due to a point mutation |
363969 | Autosomal recessive cerebral atrophy |
363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
363976 | Giant cell tumor of bone |
363981 | Charcot-Marie-Tooth disease type 4B3 |
363989 | Familial benign flecked retina |
363992 | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
363999 | Non-immune hydrops fetalis |
364013 | Immune hydrops fetalis |
364028 | X-linked intellectual disability due to GRIA3 mutations |
364033 | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood |
364039 | Hydroa vacciniforme-like lymphoma |
364043 | ALK-positive large B-cell lymphoma |
364055 | Severe early-childhood-onset retinal dystrophy |
364063 | Infantile epileptic-dyskinetic encephalopathy |
364198 | Bipartite talus |
364577 | Intellectual disability-brachydactyly-Pierre Robin syndrome |
369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 |
369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome |
369852 | Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
369861 | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
369867 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
369873 | Obesity due to SIM1 deficiency |
369881 | 2p21 microdeletion syndrome without cystinuria |
369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency |
369897 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
369913 | Combined oxidative phosphorylation defect type 17 |
369920 | Pontocerebellar hypoplasia type 9 |
369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome |
369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
369942 | CADDS |
369950 | Intellectual disability-seizures-macrocephaly-obesity syndrome |
369955 | Methylmalonic acidemia with homocystinuria, type cblJ |
369962 | Methylmalonic acidemia with homocystinuria, type cblX |
369970 | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome |
369979 | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome |
369992 | Severe dermatitis-multiple allergies-metabolic wasting syndrome |
369999 | Diffuse palmoplantar keratoderma with painful fissures |
370002 | Focal palmoplantar keratoderma with joint keratoses |
370010 | Intellectual disability-facial dysmorphism-hand anomalies syndrome |
370015 | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type |
370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome |
370026 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
370034 | Familial syringomyelia |
370039 | Angora hair nevus |
370046 | Didymosis aplasticosebacea |
370052 | SCALP syndrome |
370059 | NEVADA syndrome |
370076 | Fetal carbamazepine syndrome |
370079 | Proximal 16p11.2 microduplication syndrome |
370088 | Acute infantile liver failure-multisystemic involvement syndrome |
370091 | Oculocutaneous albinism type 5 |
370097 | Oculocutaneous albinism type 6 |
370103 | Primary dystonia, DYT17 type |
370109 | Ataxia-telangiectasia variant |
370127 | Medich giant platelet syndrome |
370131 | White platelet syndrome |
370334 | Extraskeletal Ewing sarcoma |
370348 | Peripheral primitive neuroectodermal tumor |
370396 | Small cell carcinoma of the ovary |
370921 | STT3A-CDG |
370924 | STT3B-CDG |
370927 | SSR4-CDG |
370930 | XYLT1-CDG |
370933 | GM3 synthase deficiency |
370943 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome |
370959 | Congenital muscular dystrophy with cerebellar involvement |
370968 | Congenital muscular dystrophy with intellectual disability |
370980 | Congenital muscular dystrophy without intellectual disability |
370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy |
371007 | Congenital muscular dystrophy with hyperlaxity |
371364 | Hypotonia-speech impairment-severe cognitive delay syndrome |
371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum |
391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
391311 | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency |
391316 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
391320 | East Texas bleeding disorder |
391327 | X-linked calvarial hyperostosis |
391330 | X-linked osteoporosis with fractures |
391343 | Fatal post-viral neurodegenerative disorder |
391348 | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
391351 | SURF1-related Charcot-Marie-Tooth disease type 4 |
391366 | Growth retardation-mild developmental delay-chronic hepatitis syndrome |
391372 | FOXP1 Syndrome |
391376 | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
391384 | Familial episodic pain syndrome |
391389 | Familial episodic pain syndrome with predominantly upper body involvement |
391392 | Familial episodic pain syndrome with predominantly lower limb involvement |
391397 | Hereditary sensory and autonomic neuropathy type 7 |
391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
391411 | Atypical juvenile parkinsonism |
391417 | HSD10 disease |
391428 | HSD10 disease, infantile type |
391457 | HSD10 disease, neonatal type |
391474 | Frontorhiny |
391487 | STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome |
391490 | Adult-onset myasthenia gravis |
391497 | Juvenile myasthenia gravis |
391504 | Transient neonatal myasthenia gravis |
391641 | Feingold syndrome type 1 |
391646 | Feingold syndrome type 2 |
391651 | Glomus tumor |
391655 | Off-periods in Parkinson disease not responding to oral treatment |
391665 | Homozygous familial hypercholesterolemia |
391673 | Necrotizing enterocolitis |
391677 | Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
391723 | Mucinous adenocarcinoma of the appendix |
394529 | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
394532 | Multiple acyl-CoA dehydrogenase deficiency, mild type |
397587 | Deep dermatophytosis |
397590 | Silver-Russell syndrome due to a point mutation |
397593 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
397596 | Activated PI3K-delta syndrome |
397606 | PrP systemic amyloidosis |
397612 | Macrocephaly-developmental delay syndrome |
397615 | Obesity due to CEP19 deficiency |
397618 | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome |
397623 | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
397685 | Familial hyperprolactinemia |
397692 | Hereditary isolated aplastic anemia |
397695 | 3q27.3 microdeletion syndrome |
397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome |
397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
397725 | COASY protein-associated neurodegeneration |
397735 | Autosomal dominant Charcot-Marie-Tooth disease type 2U |
397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
397750 | Periodic paralysis with later-onset distal motor neuropathy |
397755 | Periodic paralysis with transient compartment-like syndrome |
397758 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
397787 | Severe combined immunodeficiency due to IKK2 deficiency |
397922 | Ferro-cerebro-cutaneous syndrome |
397927 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
397937 | Polyglucosan body myopathy type 1 |
397941 | MAN1B1-CDG |
397946 | Autosomal spastic paraplegia type 58 |
397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome |
397959 | TCR-alpha-beta-positive T-cell deficiency |
397964 | Combined immunodeficiency due to MALT1 deficiency |
397968 | Charcot-Marie-Tooth disease type 2R |
397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome |
398053 | Adenocarcinoma of the penis |
398058 | Squamous cell carcinoma of the penis |
398063 | Refractory celiac disease |
398069 | MAGEL2-related Prader-Willi-like syndrome |
398079 | SIM1-related Prader-Willi-like syndrome |
398088 | Hereditary cryohydrocytosis with normal stomatin |
398097 | Neonatal antiphospholipid syndrome |
398109 | Neonatal autoimmune hemolytic anemia |
398117 | Neonatal dermatomyositis |
398124 | Neonatal lupus erythematosus |
398127 | Neonatal scleroderma |
398147 | Persistent idiopathic facial pain |
398156 | Oculoauriculofrontonasal syndrome |
398166 | Focal facial dermal dysplasia |
398173 | Focal facial dermal dysplasia type II |
398189 | Focal facial dermal dysplasia type IV |
398961 | Mucinous adenocarcinoma of ovary |
398971 | Clear cell adenocarcinoma of the ovary |
398987 | Malignant teratoma of ovary |
399058 | Alpha-B crystallin-related late-onset myopathy |
399081 | KLHL9-related early-onset distal myopathy |
399086 | Finnish upper limb-onset distal myopathy |
399096 | Distal anoctaminopathy |
399103 | Distal nebulin myopathy |
399175 | Traumatic avascular necrosis |
399180 | Secondary non-traumatic avascular necrosis |
399293 | Osteonecrosis of the jaw |
399307 | Idiopathic avascular necrosis |
399329 | Epiphysiolysis of the hip |
399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation |
399808 | Male infertility with teratozoospermia due to single gene mutation |
401764 | Pancytopenia-developmental delay syndrome |
401768 | Proximal myopathy with extrapyramidal signs |
401777 | Optic atrophy-intellectual disability syndrome |
401780 | Autosomal recessive spastic paraplegia type 61 |
401785 | Autosomal recessive spastic paraplegia type 62 |
401795 | Autosomal recessive spastic paraplegia type 59 |
401800 | Autosomal recessive spastic paraplegia type 60 |
401805 | Autosomal recessive spastic paraplegia type 63 |
401810 | Autosomal recessive spastic paraplegia type 64 |
401815 | Autosomal recessive spastic paraplegia type 66 |
401820 | Autosomal recessive spastic paraplegia type 67 |
401830 | Autosomal recessive spastic paraplegia type 69 |
401835 | Autosomal recessive spastic paraplegia type 70 |
401840 | Autosomal recessive spastic paraplegia type 71 |
401849 | Autosomal spastic paraplegia type 72 |
401859 | Lipoic acid synthetase deficiency |
401862 | Lipoyl transferase 1 deficiency |
401866 | Childhood-onset spasticity with hyperglycinemia |
401869 | Multiple mitochondrial dysfunctions syndrome type 1 |
401874 | Multiple mitochondrial dysfunctions syndrome type 2 |
401901 | Huntington disease-like syndrome due to C9ORF72 expansions |
401911 | AXIN2-related attenuated familial adenomatous polyposis |
401920 | Fibrolamellar hepatocellular carcinoma |
401923 | 9q31.1q31.3 microdeletion syndrome |
401935 | 14q24.1q24.3 microdeletion syndrome |
401942 | Familial median cleft of the upper and lower lips |
401945 | Moyamoya disease with early-onset achalasia |
401948 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
401953 | Episodic ataxia with slurred speech |
401959 | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
401964 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons |
401973 | MEND syndrome |
401979 | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type |
401986 | 1p31p32 microdeletion syndrome |
401996 | Karyomegalic interstitial nephritis |
402003 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering |
402014 | Acute myeloid leukemia with t(6;9)(p23;q34) |
402017 | Acute myeloid leukemia with t(9;11)(p22;q23) |
402020 | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
402023 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) |
402026 | Acute myeloid leukemia with NPM1 somatic mutations |
402035 | Eosinophilic colitis |
402041 | Autosomal recessive distal renal tubular acidosis |
402075 | Familial bicuspid aortic valve |
402082 | Progressive myoclonic epilepsy type 5 |
402364 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
402823 | Hepatitis delta |
404437 | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome |
404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
404443 | Tatton-Brown-Rahman syndrome |
404448 | ADNP syndrome |
404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome |
404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome |
404463 | Multisystemic smooth muscle dysfunction syndrome |
404466 | Female infertility due to zona pellucida defect |
404473 | Severe intellectual disability-progressive spastic diplegia syndrome |
404476 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome |
404493 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency |
404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency |
404507 | Chondromyxoid fibroma |
404511 | Clear cell papillary renal cell carcinoma |
404514 | Acquired cystic disease-associated renal cell carcinoma |
404521 | Spinal muscular atrophy with respiratory distress type 2 |
404546 | DITRA |
404553 | Adenosine deaminase 2 deficiency |
404560 | Familial atypical multiple mole melanoma syndrome |
411493 | Pontocerebellar hypoplasia type 10 |
411501 | Williams-Campbell syndrome |
411511 | Angelman syndrome due to a point mutation |
411515 | Angelman syndrome due to imprinting defect in 15q11-q13 |
411527 | Central retinal vein occlusion |
411536 | Mild phosphoribosylpyrophosphate synthetase superactivity |
411543 | Severe phosphoribosylpyrophosphate synthetase superactivity |
411590 | Wolfram-like syndrome |
411593 | Insulin autoimmune syndrome |
411602 | Hereditary late-onset Parkinson disease |
411629 | Infantile nephropathic cystinosis |
411634 | Juvenile nephropathic cystinosis |
411641 | Ocular cystinosis |
411696 | Proton-pump inhibitor-responsive esophageal eosinophilia |
411703 | Pulmonary non-tuberculous mycobacterial infection |
411709 | Renal agenesis |
411712 | Maternal riboflavin deficiency |
411777 | Generalized eruptive keratoacanthoma |
411788 | Familial isolated trichomegaly |
411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
412022 | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
412035 | 13q12.3 microdeletion syndrome |
412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments |
412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
412181 | Epidermolysis bullosa simplex due to BP230 deficiency |
412189 | Epidermolysis bullosa simplex due to exophilin 5 deficiency |
412206 | Primary failure of tooth eruption |
412217 | Dystonia-aphonia syndrome |
418945 | Carcinoma of esophagus, salivary gland type |
418951 | Undifferentiated carcinoma of esophagus |
418959 | Squamous cell carcinoma of the stomach |
420179 | Malan overgrowth syndrome |
420259 | Secondary pulmonary alveolar proteinosis |
420402 | Semicircular canal dehiscence syndrome |
420429 | Glycogen storage disease due to acid maltase deficiency, late-onset |
420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement |
420492 | Adult-onset cervical dystonia, DYT23 type |
420556 | Visual snow syndrome |
420561 | Temple-Baraitser syndrome |
420566 | Bleeding disorder due to CalDAG-GEFI deficiency |
420573 | Severe combined immunodeficiency due to CTPS1 deficiency |
420584 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
420611 | Transient myeloproliferative syndrome |
420686 | Woolly hair-palmoplantar keratoderma syndrome |
420699 | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency |
420702 | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
420728 | Combined oxidative phosphorylation defect type 20 |
420733 | Combined oxidative phosphorylation defect type 21 |
420741 | RIDDLE syndrome |
420789 | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea |
420794 | Cono-spondylar dysplasia |
422526 | Hereditary clear cell renal cell carcinoma |
423275 | Spinocerebellar ataxia type 40 |
423296 | Spinocerebellar ataxia type 38 |
423306 | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
423384 | Severe congenital neutropenia due to JAGN1 deficiency |
423454 | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
423461 | Mucolipidosis type III alpha/beta |
423470 | Mucolipidosis type III gamma |
423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency |
423693 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect |
423712 | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy |
423717 | Cutaneous larva migrans |
423786 | Undifferentiated carcinoma of stomach |
423894 | Microcephaly-complex motor and sensory axonal neuropathy syndrome |
423968 | Squamous cell carcinoma of the small intestine |
423994 | Squamous cell carcinoma of the colon |
424002 | Squamous cell carcinoma of the rectum |
424016 | Adenocarcinoma of the anal canal |
424019 | Squamous cell carcinoma of the anal canal |
424027 | Progressive myoclonic epilepsy type 8 |
424039 | Squamous cell carcinoma of pancreas |
424046 | Acinar cell carcinoma of pancreas |
424053 | Mucinous cystadenocarcinoma of the pancreas |
424058 | Intraductal papillary mucinous carcinoma of pancreas |
424065 | Solid pseudopapillary carcinoma of pancreas |
424073 | Serous cystadenocarcinoma of pancreas |
424080 | Undifferentiated carcinoma with osteoclast-like giant cells of pancreas |
424099 | Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
424107 | Congenital myopathy with myasthenic-like onset |
424261 | TOR1AIP1-related limb-girdle muscular dystrophy |
424943 | Adenocarcinoma of the liver and intrahepatic biliary tract |
424970 | Undifferentiated carcinoma of liver and intrahepatic biliary tract |
424975 | Squamous cell carcinoma of liver and intrahepatic biliary tract |
424982 | Biliary cystadenocarcinoma |
424991 | Adenocarcinoma of the gallbladder and extrahepatic biliary tract |
424996 | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract |
425120 | STING-associated vasculopathy with onset in infancy |
431140 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome |
431149 | Combined immunodeficiency due to OX40 deficiency |
431166 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
431255 | Scapuloperoneal spinal muscular atrophy |
431272 | X-linked scapuloperoneal muscular dystrophy |
431329 | Autosomal recessive spastic paraplegia type 57 |
431341 | Patent urachus |
431344 | Urachal sinus |
431347 | Urachal diverticulum |
431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency |
434179 | Orofaciodigital syndrome type 14 |
435329 | Familial ossifying fibroma |
435372 | Anterior urethral valve |
435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y |
435438 | Progressive myoclonic epilepsy type 7 |
435628 | Keppen-Lubinsky syndrome |
435638 | 3p25.3 microdeletion syndrome |
435651 | CIDEC-related familial partial lipodystrophy |
435660 | LIPE-related familial partial lipodystrophy |
435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome |
435819 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
435845 | Lethal neonatal spasticity-epileptic encephalopathy syndrome |
435930 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
435934 | COG2-CDG |
435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
435953 | Progeroid features-hepatocellular carcinoma predisposition syndrome |
435988 | Chronic atrial and intestinal dysrhythmia syndrome |
435998 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D |
436003 | Contractures-developmental delay-Pierre Robin syndrome |
436141 | HIDEA syndrome |
436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome |
436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome |
436159 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
436166 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
436169 | Thrombomodulin-related bleeding disorder |
436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
436182 | Microcephalic primordial dwarfism-insulin resistance syndrome |
436242 | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease |
436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
436252 | Combined immunodeficiency-enteropathy spectrum |
436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa |
437552 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
438075 | Ketoacidosis due to monocarboxylate transporter-1 deficiency |
438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy |
438117 | Steel syndrome |
438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome |
438159 | STAT3-related early-onset multisystem autoimmune disease |
438178 | Fatty acyl-CoA reductase 1 deficiency |
438207 | Severe autosomal recessive macrothrombocytopenia |
438213 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
438266 | Progressive encephalomyelitis with rigidity and myoclonus |
438274 | GCGR-related hyperglucagonemia |
438279 | Human infection by orthopoxvirus |
439167 | Placental insufficiency |
439175 | Pediatric arterial ischemic stroke |
439196 | Zinc-responsive necrolytic acral erythema |
439202 | Non-recovering obstetric brachial plexus lesion |
439212 | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
439218 | KCNQ2-related epileptic encephalopathy |
439224 | ALECT2 amyloidosis |
439232 | AApoAIV amyloidosis |
439254 | ITM2B amyloidosis |
439729 | Cutaneous polyarteritis nodosa |
439737 | Primary polyarteritis nodosa |
439746 | Secondary polyarteritis nodosa |
439755 | Single-organ polyarteritis nodosa |
439762 | Systemic polyarteritis nodosa |
439822 | PDE4D haploinsufficiency syndrome |
439854 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
439881 | Plastic bronchitis |
439897 | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
440221 | Congenital oculomotor nerve palsy |
440233 | Congenital abducens nerve palsy |
440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
440368 | Necrotizing soft tissue infection |
440392 | Interstitial lung disease due to SP-C deficiency |
440402 | Interstitial lung disease due to ABCA3 deficiency |
440427 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
440437 | Familial colorectal cancer Type X |
440706 | Ribose-5-P isomerase deficiency |
440713 | Isolated sedoheptulokinase deficiency |
440724 | Extensive peripapillary myelinated nerve fibers |
440727 | Combined hamartoma of the retina and retinal pigment epithelium |
440731 | L-ferritin deficiency |
440987 | Isolated agenesis of gallbladder |
441447 | Early-onset posterior subcapsular cataract |
441452 | Early-onset lamellar cataract |
442582 | AH amyloidosis |
442835 | Non-specific early-onset epileptic encephalopathy |
443057 | Sporadic porphyria cutanea tarda |
443062 | Familial porphyria cutanea tarda |
443070 | Hemicrania continua |
443073 | Charcot-Marie-Tooth disease type 2S |
443079 | Central serous chorioretinopathy |
443084 | Baroreflex failure |
443087 | 46,XY difference of sex development due to testicular 17,20-desmolase deficiency |
443098 | Hyperostosis cranialis interna |
443101 | Hypothalamic adipsic hypernatraemia syndrome |
443159 | Lymphoplasmacytic lymphoma without IgM production |
443162 | NDE1-related microhydranencephaly |
443167 | NUT midline carcinoma |
443173 | Postpartum psychosis |
443180 | Spontaneous intracranial hypotension |
443192 | Classic stiff person syndrome |
443197 | X-linked erythropoietic protoporphyria |
443227 | Paratyphoid fever |
443236 | Postural orthostatic tachycardia syndrome due to NET deficiency |
443291 | HIV-associated cancer |
443804 | Focal stiff limb syndrome |
443811 | PGM3-CDG |
443950 | DNAJB2-related Charcot-Marie-Tooth disease type 2 |
443988 | Ventriculomegaly-cystic kidney disease |
443995 | Mandibulofacial dysostosis with alopecia |
444002 | 11q22.2q22.3 microdeletion syndrome |
444013 | Combined oxidative phosphorylation defect type 23 |
444048 | 46,XX ovarian dysgenesis-short stature syndrome |
444051 | 20q11.2 microdeletion syndrome |
444069 | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
444072 | Cerebellar-facial-dental syndrome |
444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
444092 | Autoimmune interstitial lung disease-arthritis syndrome |
444099 | Autosomal dominant spastic paraplegia type 73 |
444138 | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
444316 | Idiopathic phalangeal acro-osteolysis |
444458 | Combined oxidative phosphorylation defect type 24 |
444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency |
444490 | Familial chylomicronemia syndrome |
445018 | Combined immunodeficiency due to LRBA deficiency |
445038 | 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome |
445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
445110 | Limb-girdle muscular dystrophy due to POMK deficiency |
447731 | NIK deficiency |
447737 | Combined immunodeficiency due to DOCK2 deficiency |
447740 | Susceptibility to localized juvenile periodontitis |
447753 | Autosomal dominant spastic paraplegia type 9A |
447757 | Autosomal dominant spastic paraplegia type 9B |
447760 | Autosomal recessive spastic paraplegia type 9B |
447764 | IgG4-related sclerosing cholangitis |
447774 | Secondary sclerosing cholangitis |
447777 | Keratocystic odontogenic tumor |
447784 | Mitochondrial pyruvate carrier deficiency |
447788 | Cerebral visual impairment |
447795 | Lipoyl transferase 2 deficiency |
447877 | Polymerase proofreading-related adenomatous polyposis |
447881 | Idiopathic dropped head syndrome |
447893 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome |
447896 | Tremor-ataxia-central hypomyelination syndrome |
447954 | Combined oxidative phosphorylation defect type 25 |
447961 | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
447964 | Autosomal dominant Charcot-Marie-Tooth disease type 2V |
447974 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
447977 | Progressive scapulohumeroperoneal distal myopathy |
447980 | 19p13.3 microduplication syndrome |
447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
448010 | CAD-CDG |
448237 | Zika virus disease |
448242 | Autosomal recessive brachyolmia |
448251 | Progressive autosomal recessive ataxia-deafness syndrome |
448264 | Isolated focal non-epidermolytic palmoplantar keratoderma |
448267 | Regressive spondylometaphyseal dysplasia |
448270 | Ectopia cordis |
449266 | Pleural empyema |
449280 | Scedosporiosis |
449285 | Snakebite envenomation |
449291 | Symptomatic form of fragile X syndrome in female carriers |
449395 | IgG4-related kidney disease |
449400 | IgG4-related aortitis |
449427 | IgG4-related pachymeningitis |
449432 | IgG4-related submandibular gland disease |
449563 | IgG4-related ophthalmic disease |
449566 | Eosinophilic angiocentric fibrosis |
450322 | Polyclonal hyperviscosity syndrome |
451602 | Primary cutaneous plasmacytosis |
451607 | Cutaneous pseudolymphoma |
451612 | Familial congenital nasolacrimal duct obstruction |
453499 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome |
453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation |
453510 | Congenital insensitivity to pain with severe intellectual disability |
453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
453533 | Polyendocrine-polyneuropathy syndrome |
454706 | Progressive muscular atrophy |
454710 | Anti-p200 pemphigoid |
454714 | Plasma cell leukemia |
454718 | Holmes-Adie syndrome |
454723 | Endometrioid carcinoma of ovary |
454742 | Variably protease-sensitive prionopathy |
454745 | Kuru |
454750 | Isolated tracheoesophageal fistula |
454821 | Pleomorphic salivary gland adenoma |
454831 | Acute radiation syndrome |
454836 | Avian influenza |
454840 | NTHL1-related attenuated familial adenomatous polyposis |
454887 | Corticobasal syndrome |
456298 | 1p35.2 microdeletion syndrome |
456312 | Infantile multisystem neurologic-endocrine-pancreatic disease |
456318 | Hereditary sensory neuropathy-deafness-dementia syndrome |
456328 | X-linked myotubular myopathy-abnormal genitalia syndrome |
456333 | Hereditary neuroendocrine tumor of small intestine |
456369 | Polyglucosan body myopathy type 2 |
457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance |
457077 | TAFRO syndrome |
457083 | Isolated splenogonadal fusion |
457088 | Predisposition to invasive fungal disease due to CARD9 deficiency |
457095 | Actinomycosis |
457185 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
457205 | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome |
457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
457223 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
457240 | X-linked intellectual disability-short stature-overweight syndrome |
457246 | Clear cell sarcoma of kidney |
457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome |
457265 | Progressive myoclonic epilepsy type 9 |
457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome |
457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome |
457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
457365 | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome |
457375 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
457378 | Complex lethal osteochondrodysplasia |
457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome |
457406 | Multiple mitochondrial dysfunctions syndrome type 4 |
457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
458718 | Idiopathic spontaneous coronary artery dissection |
458758 | Composite hemangioendothelioma |
458763 | Retiform hemangioendothelioma |
458768 | Papillary intralymphatic angioendothelioma |
458785 | Partially involuting congenital hemangioma |
458792 | Mixed cystic lymphatic malformation |
458798 | Spinocerebellar ataxia type 41 |
458803 | Spinocerebellar ataxia type 42 |
459033 | Ataxia-oculomotor apraxia type 4 |
459051 | Spondyloepiphyseal dysplasia, Stanescu type |
459056 | Autosomal recessive spastic paraplegia type 75 |
459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome |
459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
459074 | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome |
464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome |
464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome |
464306 | DYRK1A-related intellectual disability syndrome |
464311 | Intellectual disability syndrome due to a DYRK1A point mutation |
464318 | Verrucous hemangioma |
464321 | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
464329 | Kaposiform lymphangiomatosis |
464336 | BENTA disease |
464343 | Catastrophic antiphospholipid syndrome |
464359 | Benign metanephric tumor |
464366 | NEK9-related lethal skeletal dysplasia |
464370 | Neonatal alloimmune neutropenia |
464440 | Primary dystonia, DYT27 type |
464443 | COG6-CGD |
464453 | Acquired methemoglobinemia |
464458 | Paracetamol poisoning |
464724 | Fever-associated acute infantile liver failure syndrome |
464738 | Basel-Vanagaite-Smirin-Yosef syndrome |
464756 | Familial gastric type 1 neuroendocrine tumor |
464760 | Familial cavitary optic disc anomaly |
465508 | Symptomatic form of HFE-related hemochromatosis |
465824 | Fetal encasement syndrome |
466026 | Class I glucose-6-phosphate dehydrogenase deficiency |
466650 | Exercise-induced malignant hyperthermia |
466670 | Cyanide poisoning |
466677 | Scorpion envenomation |
466682 | Euthyroid Graves orbitopathy |
466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
466695 | Supratip dysplasia |
466703 | TMEM199-CDG |
466718 | Martinique crinkled retinal pigment epitheliopathy |
466722 | Autosomal recessive spastic paraplegia type 77 |
466729 | Familial patent arterial duct |
466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
466775 | Autosomal recessive Charcot-Marie-Tooth disease type 2X |
466784 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome |
466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
466806 | Autosomal dominant thrombocytopenia with platelet secretion defect |
466921 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome |
466926 | Seizures-scoliosis-macrocephaly syndrome |
466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy |
466943 | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome |
466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
466962 | SMARCA4-deficient sarcoma of thorax |
467166 | Tubulinopathy-associated dysgyria |
467176 | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
468620 | Intellectual disability-epilepsy-extrapyramidal syndrome |
468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency |
468635 | Cryptogenic multifocal ulcerous stenosing enteritis |
468641 | Chronic enteropathy associated with SLCO2A1 gene |
468661 | Autosomal recessive spastic paraplegia type 74 |
468666 | Isolated generalized anhidrosis with normal sweat glands |
468672 | Colobomatous macrophthalmia-microcornea syndrome |
468678 | White-Sutton syndrome |
468684 | CCDC115-CDG |
468699 | SLC39A8-CDG |
468717 | Rhizomelic chondrodysplasia punctata type 5 |
468726 | Severe primary trimethylaminuria |
476084 | BVES-related limb-girdle muscular dystrophy |
476093 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome |
476096 | Erythrokeratodermia-cardiomyopathy syndrome |
476113 | Combined immunodeficiency due to TFRC deficiency |
476119 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome |
476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
476394 | PMP2-related Charcot-Marie-Tooth disease type 1 |
476406 | Congenital generalized hypercontractile muscle stiffness syndrome |
477650 | Fibroblastic rheumatism |
477661 | IL21-related infantile inflammatory bowel disease |
477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome |
477684 | Combined oxidative phosphorylation defect type 26 |
477738 | Pediatric multiple sclerosis |
477742 | Nodular fasciitis |
477749 | Pontine autosomal dominant microangiopathy with leukoencephalopathy |
477774 | Combined oxidative phosphorylation defect type 27 |
477781 | Primary condylar hyperplasia |
477787 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
477814 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
477817 | PMP22-RAI1 contiguous gene duplication syndrome |
477831 | Kosaki overgrowth syndrome |
477857 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
478029 | Combined oxidative phosphorylation defect type 29 |
478042 | Combined oxidative phosphorylation defect type 30 |
478049 | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
478664 | Hereditary sensory and autonomic neuropathy type 8 |
480476 | Progressive familial intrahepatic cholestasis type 5 |
480483 | Progressive familial intrahepatic cholestasis type 4 |
480491 | MYO5B-related progressive familial intrahepatic cholestasis |
480501 | Choledochal cyst |
480506 | Primary intrahepatic lithiasis |
480512 | Idiopathic ductopenia |
480520 | Caroli syndrome |
480524 | Idiopathic peliosis hepatis |
480528 | Lethal hydranencephaly-diaphragmatic hernia syndrome |
480531 | Congenital portosystemic shunt |
480536 | MSH3-related attenuated familial adenomatous polyposis |
480541 | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement |
480553 | Aneurysmal bone cyst |
480556 | Isolated neonatal sclerosing cholangitis |
480682 | POGLUT1-related limb-girdle muscular dystrophy R21 |
480701 | Facial diplegia with paresthesias |
480851 | Hereditary thrombocytopenia with early-onset myelofibrosis |
480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome |
480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome |
481152 | PYCR2-related microcephaly-progressive leukoencephalopathy |
481662 | Familial Chilblain lupus |
481665 | USP18 deficiency |
481986 | Familial schizencephaly |
482077 | HTRA1-related autosomal dominant cerebral small vessel disease |
482601 | Adenylosuccinate synthetase-like 1-related distal myopathy |
482606 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome |
485275 | Acquired schizencephaly |
485350 | CLCN4-related X-linked intellectual disability syndrome |
485358 | Propylthiouracil embryofetopathy |
485405 | 16p12.1p12.3 triplication syndrome |
485418 | EMILIN-1-related connective tissue disease |
485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
485426 | Isolated congenital hepatic fibrosis |
486811 | Prenatal-onset spinal muscular atrophy with congenital bone fractures |
486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
487796 | Takenouchi-Kosaki syndrome |
487809 | Pediatric collagenous gastritis |
487814 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
487825 | Pierpont syndrome |
488168 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
488191 | Female infertility due to oocyte meiotic arrest |
488197 | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
488232 | Split-foot malformation-mesoaxial polydactyly syndrome |
488239 | Acute macular neuroretinopathy |
488265 | Osteofibrous dysplasia |
488280 | 14q32 duplication syndrome |
488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W |
488434 | Camptodactyly syndrome, Guadalajara type 3 |
488437 | SIX2-related frontonasal dysplasia |
488586 | Congenital amyoplasia |
488594 | Autosomal recessive spastic paraplegia type 76 |
488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
488618 | Transketolase deficiency |
488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
488632 | TBCK-related intellectual disability syndrome |
488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome |
488642 | TELO2-related intellectual disability-neurodevelopmental disorder |
488647 | DDX41-related hematologic malignancy predisposition syndrome |
488650 | Distal myopathy, Tateyama type |
493342 | Vibratory urticaria |
494344 | RERE-related neurodevelopmental syndrome |
494418 | Vulvar carcinoma |
494421 | Sacrococcygeal teratoma |
494424 | Extracranial carotid artery aneurysm |
494428 | Idiopathic pleuroparenchymal fibroelastosis |
494433 | MIRAGE syndrome |
494439 | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
494444 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
494448 | Vulvar squamous cell carcinoma |
494451 | Vulvar basal cell carcinoma |
494454 | Vulvar adenocarcinoma |
494526 | Infantile-onset generalized dyskinesia with orofacial involvement |
494541 | Childhood-onset benign chorea with striatal involvement |
494547 | Squamous cell carcinoma of the hypopharynx |
494550 | Squamous cell carcinoma of the larynx |
495274 | Charcot-Marie-Tooth disease type 2T |
495818 | 9q33.3q34.11 microdeletion syndrome |
495844 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy |
495875 | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
495879 | Congenital agenesis of the scrotum |
495930 | Familial monosomy 7 syndrome |
496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
496686 | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome |
496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome |
496693 | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome |
496751 | EVEN-plus syndrome |
496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome |
496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome |
497188 | Diffuse intrinsic pontine glioma |
497737 | Epidermolytic nevus |
497757 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
497764 | Spinocerebellar ataxia type 43 |
497906 | Childhood-onset basal ganglia degeneration syndrome |
498228 | Phyllodes tumor of the prostate |
498251 | Menstrual cycle-dependent periodic fever |
498359 | Aquagenic palmoplantar keratoderma |
498474 | Hyaline fibromatosis syndrome |
498481 | LRP5-related primary osteoporosis |
498485 | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome |
498488 | Overgrowth syndrome with 2q37 translocation |
498494 | Mirror-image polydactyly |
498497 | Short rib-polydactyly syndrome type 5 |
498602 | Sugarman brachydactyly |
498693 | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
499009 | Congenital syphilis |
499085 | Chronic relapsing inflammatory optic neuritis |
499096 | Isolated optic neuritis |
499103 | Recurrent idiopathic neuroretinitis |
499107 | Idiopathic optic perineuritis |
499182 | Pilomatrix carcinoma |
500055 | Hao-Fountain syndrome due to 16p13.2 microdeletion |
500062 | Infantile-onset periodic fever-panniculitis-dermatosis syndrome |
500095 | Tall stature-intellectual disability-renal anomalies syndrome |
500135 | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom |
500163 | Witteveen-Kolk syndrome |
500166 | SIN3-related intellectual disability syndrome due to a point mutation |
500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
500188 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
500464 | Squamous cell carcinoma of the nasal cavity and paranasal sinuses |
500478 | Squamous cell carcinoma of the oropharynx |
500481 | Squamous cell carcinoma of salivary glands |
500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
500548 | Osteosclerotic metaphyseal dysplasia |
502305 | Cochleovestibular malformation |
502318 | Cochlear nerve deficiency |
502363 | Squamous cell carcinoma of the oral cavity |
502366 | Squamous cell carcinoma of the lip |
502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
502430 | Weiss-Kruszka Syndrome |
502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome |
502437 | 4q25 proximal deletion syndrome |
502444 | Alkaline ceramidase 3 deficiency |
502499 | Erythema multiforme major |
504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
504523 | Severe combined immunodeficiency due to LAT deficiency |
504530 | Combined immunodeficiency due to Moesin deficiency |
505208 | 3-methylglutaconic aciduria type 8 |
505216 | 3-methylglutaconic aciduria type 9 |
505227 | Combined immunodeficiency due to GINS1 deficiency |
505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome |
505242 | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
505395 | Ventilator-induced diaphragmatic dysfunction |
505652 | CDKL5-deficiency disorder |
506075 | Non-functioning neuroendocrine tumor of pancreas |
506090 | Serotonin-producing neuroendocrine tumor of pancreas |
506098 | Neuroendocrine carcinoma of pancreas |
506112 | Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas |
506136 | Neuroendocrine neoplasm of esophagus |
506307 | Stromme syndrome |
506334 | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
506358 | Gabriele-de Vries syndrome |
506784 | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome |
508093 | MEPAN syndrome |
508410 | Familial intestinal malrotation |
508476 | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
508488 | 8q24.3 microdeletion syndrome |
508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
508501 | Oral-facial-digital syndrome with short stature and brachymesophalangy |
508512 | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome |
508523 | Hyperphenylalaninemia due to DNAJC12 deficiency |
508529 | Intermediate epidermolysis bullosa simplex with cardiomyopathy |
508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome |
508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome |
512017 | Chronic lymphoproliferative disorder of natural killer cells |
512103 | Autosomal recessive epidermolytic ichthyosis |
512260 | Congenital cerebellar ataxia due to RNU12 mutation |
513436 | Autosomal recessive spastic paraplegia type 78 |
513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
514352 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome |
519384 | Congenital cystic eye |
519386 | Isolated congenital entropion |
519388 | Autosomal recessive anterior segment dysgenesis |
519390 | Isolated blepharochalasis |
519392 | Isolated iridoschisis |
519396 | Isolated microspherophakia |
519398 | Isolated foveal hypoplasia |
519400 | Peripapillary staphyloma |
519402 | Isolated megalopapilla |
519404 | Optic disc pit |
519406 | Thygeson superficial punctate keratitis |
519408 | Mooren ulcer |
519410 | Terrien marginal degeneration |
519930 | Fungal keratitis |
521123 | Radiation-induced plexopathy |
521127 | Osteoradionecrosis of the mandible |
521219 | Mirizzi syndrome |
521258 | Xq25 microduplication syndrome |
521305 | Proximal myopathy with focal depletion of mitochondria |
521308 | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome |
521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome |
521406 | Dystonia-parkinsonism-hypermanganesemia syndrome |
521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect |
521414 | Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
521426 | PLAA-associated neurodevelopmental disorder |
521432 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome |
521438 | Congenital vertebral-cardiac-renal anomalies syndrome |
521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome |
521450 | LAMA5-related multisystemic syndrome |
522037 | Primary autoimmune enteropathy |
522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
525731 | Pediatric-onset Graves disease |
525738 | Prepubertal anorexia nervosa |
527276 | Encephalopathy due to mitochondrial and peroxisomal fission defect |
527450 | Severe myopia-generalized joint laxity-short stature syndrome |
527468 | Diaphragmatic hernia-short bowel-asplenia syndrome |
527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
528084 | Non-specific syndromic intellectual disability |
528091 | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
528105 | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome |
528623 | Hereditary angioedema with C1Inh deficiency |
528647 | Hereditary angioedema with normal C1Inh |
528663 | Acquired angioedema with C1Inh deficiency |
529468 | Monoclonal mast cell activation syndrome |
529574 | Duane retraction syndrome with congenital deafness |
529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome |
529799 | Acute bilirubin encephalopathy |
529808 | Chronic bilirubin encephalopathy |
529831 | Letrozole toxicity |
529852 | Combined hepatocellular carcinoma and cholangiocarcinoma |
529864 | Secondary erythromelalgia |
529962 | 17q24.2 microdeletion syndrome |
529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome |
529970 | Male infertility due to acephalic spermatozoa |
529977 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome |
529980 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome |
530033 | Dermoid or epidermoid cyst of the central nervous system |
530298 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies |
530303 | Progressive dementia with neuroserpin inclusion bodies |
530792 | RELA fusion-positive ependymoma |
530838 | KRT1-related diffuse nonepidermolytic keratoderma |
530849 | Familial apolipoprotein A5 deficiency |
530983 | Lamb-Shaffer syndrome |
530995 | Mixed phenotype acute leukemia |
531151 | 9q21.13 microdeletion syndrome |
535453 | Familial lipase maturation factor 1 deficiency |
535458 | Familial GPIHBP1 deficiency |
536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
536471 | Spondylodysplastic Ehlers-Danlos syndrome |
536516 | Myopathic Ehlers-Danlos syndrome |
536532 | Classical-like Ehlers-Danlos syndrome type 2 |
536545 | Kyphoscoliotic Ehlers-Danlos syndrome |
537072 | PLG-related hereditary angioedema with normal C1Inh |
538096 | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
538101 | Congenital axonal neuropathy with encephalopathy |
538574 | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome |
538756 | Familial multiple discoid fibromas |
538863 | Classic pyoderma gangrenosum |
538866 | Pustular pyoderma gangrenosum |
538869 | Bullous pyoderma gangrenosum |
538872 | Vegetative pyoderma gangrenosum |
538931 | X-linked lymphoproliferative disease due to SAP deficiency |
538934 | X-linked lymphoproliferative disease due to XIAP deficiency |
538958 | Combined immunodeficiency due to CD70 deficiency |
538963 | Combined immunodeficiency due to ITK deficiency |
541423 | Growth delay-intellectual disability-hepatopathy syndrome |
541443 | Anomalous aortic origin of the left coronary artery |
541454 | Anomalous aortic origin of the right coronary artery |
541507 | Anomalous origin of coronary artery from the pulmonary artery |
542301 | Combined immunodeficiency due to CARMIL2 deficiency |
542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome |
542310 | Leukoencephalopathy with calcifications and cysts |
542323 | CAR T cell therapy-associated cytokine release syndrome |
542568 | Quadricuspid aortic valve |
542585 | Auditory neuropathy-optic atrophy syndrome |
542592 | Necrobiosis lipoidica |
542643 | Livedoid vasculopathy |
542657 | Isolated hyperchlorhidrosis |
543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
544254 | SYNGAP1-related developmental and epileptic encephalopathy |
544469 | PRUNE1-related neurological syndrome |
544472 | Atypical hemolytic uremic syndrome with complement gene abnormality |
544482 | Infection-related hemolytic uremic syndrome |
544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome |
544493 | Streptococcus pneumoniae-associated hemolytic uremic syndrome |
544503 | RNF13-related severe early-onset epileptic encephalopathy |
544578 | Congenital primary megaureter, refluxing and obstructed form |
544602 | Congenital myopathy with reduced type 2 muscle fibers |
544628 | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome |
555402 | NAD(P)HX dehydratase deficiency |
555407 | NAD(P)HX epimerase deficiency |
555434 | Fibrohistiocytic inflammatory pseudotumor of the liver |
555437 | Lymphoplasmacytic inflammatory pseudotumor of the liver |
555874 | Congenital tricuspid valve dysplasia |
555877 | FLNA-related X-linked myxomatous valvular dysplasia |
555905 | IgA pemphigus |
556030 | Early-onset familial hypoaldosteronism |
556037 | Late-onset familial hypoaldosteronism |
556955 | Pancreatic agenesis-holoprosencephaly syndrome |
556985 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia |
557003 | Oculoskeletodental syndrome |
557056 | Spastic ataxia-dysarthria due to glutaminase deficiency |
557064 | Neonatal epileptic encephalopathy due to glutaminase deficiency |
558411 | Idiopathic gastroparesis |
561854 | FOXG1 syndrome |
562509 | Heme oxygenase-1 deficiency |
562528 | Congenital limbs-face contractures-hypotonia-developmental delay syndrome |
562538 | Autosomal recessive extra-oral halitosis |
562559 | Anterior maxillary protrusion-strabismus-intellectual disability syndrome |
562569 | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
562639 | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
563576 | Autoimmune hepatitis type 1 |
563581 | Autoimmune hepatitis type 2 |
563589 | Seronegative autoimmune hepatitis |
563609 | Isolated anencephaly |
563612 | Isolated exencephaly |
563666 | Serous cystadenoma of childhood |
563671 | Mucinous cystadenoma of childhood |
563676 | Seromucinous cystadenoma of childhood |
563684 | Furuncular myiasis due to Dermatobia hominis |
563687 | Furuncular myiasis due to Cordylobia anthropophaga |
563690 | Furuncular myiasis due to Cordylobia rodhaini |
563708 | Syndromic congenital sodium diarrhea |
563951 | Isolated congenital aglossia |
563954 | Isolated congenital hypoglossia |
563991 | Osteochondrosis of the tarsal bone |
564003 | Osteochondrosis of the metatarsal bone |
564178 | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome |
565612 | Primary triglyceride deposit cardiomyovasculopathy |
565624 | Combined oxidative phosphorylation defect type 39 |
565641 | Primary desmosis coli |
565782 | Methotrexate toxicity |
565788 | Infantile inflammatory bowel disease with neurological involvement |
565837 | Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 |
565858 | Craniosynostosis-microretrognathia-severe intellectual disability syndrome |
565899 | POMGNT2-related limb-girdle muscular dystrophy R24 |
565909 | Calpain-3-related limb-girdle muscular dystrophy D4 |
566067 | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
566175 | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
566192 | Congenital autosomal recessive small-platelet thrombocytopenia |
566231 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha |
566243 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
566393 | Acute mast cell leukemia |
566396 | Chronic mast cell leukemia |
566841 | Liver adenomatosis |
566847 | Aprosencephaly/atelencephaly spectrum |
566852 | Atelencephaly |
566857 | Aprosencephaly |
566862 | Left sided atrial isomerism |
566943 | Mueller-Weiss syndrome |
567502 | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
567544 | Idiopathic non-lupus full-house nephropathy |
567546 | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
567548 | Idiopathic steroid-resistant nephrotic syndrome |
567550 | Idiopathic multidrug-resistant nephrotic syndrome |
567552 | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy |
567983 | Parenteral nutrition-associated cholestasis |
568051 | GJC2-related late-onset primary lymphedema |
568056 | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome |
568062 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
568065 | EPHB4-related lymphatic-related hydrops fetalis |
569164 | Angiomatoid fibrous histiocytoma |
569248 | Microcystic stromal tumor |
569274 | Multiple mitochondrial dysfunctions syndrome type 5 |
569290 | Multiple mitochondrial dysfunctions syndrome type 6 |
569816 | CELSR1-related late-onset primary lymphedema |
569821 | Congenital primary lymphedema of Gordon |
570371 | Bartter syndrome type 5 |
570422 | Galactose mutarotase deficiency |
570431 | Idiopathic multicentric Castleman disease |
570438 | HHV-8-associated multicentric Castleman disease |
570470 | Ricin poisoning |
570491 | QRSL1-related combined oxidative phosphorylation defect |
570762 | Infective endocarditis |
572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus |
572354 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
572361 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 |
572385 | Brachydactyly type B1 |
572428 | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
572543 | RFVT2-related riboflavin transporter deficiency |
572550 | RFVT3-related riboflavin transporter deficiency |
572761 | DONSON-related microcephaly-short stature-limb abnormalities spectrum |
572768 | Microcephaly-micromelia syndrome |
572773 | Microcephaly-short stature-limb abnormalities syndrome |
572798 | WARS2-related combined oxidative phosphorylation defect |
573253 | Split cord malformation type II |
574918 | Predisposition to severe viral infection due to IRF7 deficiency |
574957 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency |
575553 | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy |
576074 | Middle East respiratory syndrome |
576227 | Complete atrioventricular septal defect without ventricular hypoplasia |
576232 | Partial atrioventricular septal defect with ventricular hypoplasia |
576235 | Partial atrioventricular septal defect without ventricular hypoplasia |
576242 | Intermediate atrioventricular septal defect |
576278 | SATB2-associated syndrome |
576283 | SATB2-associated syndrome due to a pathogenic variant |
576349 | NLRC4-related familial cold autoinflammatory syndrome |
576370 | Variant Creutzfeldt-Jakob disease |
576379 | Iatrogenic Creutzfeldt-Jakob disease |
580572 | Intraductal tubulopapillary neoplasm of pancreas |
580933 | Lethal brain and heart developmental defects |
580940 | QRICH1-related intellectual disability-chondrodysplasia syndrome |
580951 | Punctate inner choroidopathy |
581271 | Cramp-fasciculation syndrome |
583097 | Congenital infiltrating lipomatosis of the face |
583595 | Serine biosynthesis pathway deficiency, infantile/juvenile form |
583602 | Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency |
583607 | Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency |
583612 | Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency |
583856 | Isolated splenic vein thrombosis |
583861 | Isolated mesenteric vein thrombosis |
585867 | Acute myeloid leukemia with t(9;22)(q34.1;q11.2) |
585877 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality |
585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
585918 | B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) |
585929 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) |
585936 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
585942 | B-lymphoblastic leukemia/lymphoma with hypodiploidy |
585948 | B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) |
585956 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) |
586130 | Sporadic fatal insomnia |
589435 | Spondylometaphyseal dysplasia-corneal dystrophy syndrome |
589442 | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome |
589515 | PUM1-associated developmental disability-ataxia-seizure syndrome |
589522 | Spinocerebellar ataxia type 46 |
589527 | Spinocerebellar ataxia type 45 |
589534 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) |
589542 | Myeloid/lymphoid neoplasm associated with JAK2 rearrangement |
589547 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
589595 | Mixed phenotype acute leukemia with t(v;11q23.3) |
589608 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
589618 | Dystonia 28 |
589821 | Congenital-onset Steinert myotonic dystrophy |
589824 | Childhood-onset Steinert myotonic dystrophy |
589827 | Juvenile-onset Steinert myotonic dystrophy |
589830 | Adult-onset Steinert myotonic dystrophy |
589833 | Late-onset Steinert myotonic dystrophy |
589856 | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
590539 | Isolated melanotic schwannoma |
592564 | GNAO1-related developmental delay-seizures-movement disorder spectrum |
592570 | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
592574 | Menke-Hennekam syndrome |
592850 | Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies |
592856 | Neuromyelitis optica spectrum disorder with anti-MOG antibodies |
592869 | Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies |
592873 | Acute transverse myelitis with anti-MOG antibodies |
592894 | Acute disseminated encephalomyelitis with anti-MOG antibodies |
592900 | Acute disseminated encephalomyelitis without anti-MOG antibodies |
595098 | Timothy syndrome type 1 |
595105 | Timothy syndrome type 2 |
595109 | Atypical Timothy syndrome |
595133 | Perivascular epithelioid cell neoplasm |
595356 | Localized dystrophic epidermolysis bullosa |
596008 | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
596448 | IgG4-related systemic disease |
596753 | VEXAS syndrome |
596759 | Combined immunodeficiency due to RELA haploinsufficiency |
596937 | Portosinusoidal vascular disease |
596941 | Incomplete septal cirrhosis |
597201 | TRIM22-related inflammatory bowel disease |
597623 | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
597733 | Oculocutaneous albinism type 8 |
597738 | Luscan-Lumish syndrome |
597743 | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
597746 | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
597874 | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome |
597887 | ALPI-related inflammatory bowel disease |
597939 | Euthyroid dysprealbuminemic hyperthyroxinemia |
598164 | FOXG1 syndrome due to intragenic alteration |
598216 | Upper tract urothelial carcinoma |
598363 | Multisystem inflammatory syndrome in children and adults |
598603 | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome |
599082 | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome |
599373 | STXBP1-related encephalopathy |
599376 | Hypomyelination of early myelinating structures |
599418 | Hereditary angioedema with normal C1Inh not related to F12 or PLG variant |
599480 | Acquired hemophilia A |
599485 | Acquired hemophilia B |
599490 | Acquired factor V deficiency |
599495 | Acquired factor VII deficiency |
599501 | Acquired factor X deficiency |
599507 | Acquired factor XI deficiency |
599513 | Acquired factor XIII deficiency |
599519 | Factor V short isoforms-related bleeding disorder |
599579 | Factor V Amsterdam bleeding disorder |
600194 | Factor V Atlanta bleeding disorder |
600663 | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
600668 | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
600691 | Combined deficiency of factor VII and factor X |
600731 | Clark-Baraitser syndrome |
600952 | Non-syndromic anorectal malformation with perineal fistula |
600961 | Non-syndromic anorectal malformation with rectourethral fistula |
600966 | Non-syndromic anorectal malformation with rectourethral fistula, bulbar type |
600975 | Non-syndromic anorectal malformation with rectourethral fistula, prostatic type |
600984 | Non-syndromic anorectal malformation with rectovesical fistula |
600993 | Non-syndromic anorectal malformation with vestibular fistula |
600998 | Non-syndromic cloacal malformation |
601002 | Non-syndromic anorectal malformation without fistula |
601008 | Non-syndromic anorectal malformation with anal stenosis |
601013 | Non-syndromic anorectal malformation with pouch colon |
601018 | Non-syndromic anorectal malformation with rectal atresia |
601023 | Non-syndromic anorectal malformation with rectal stenosis |
601028 | Non-syndromic anorectal malformation with rectovaginal fistula |
601033 | Non-syndromic anorectal malformation with H-type fistula |
603448 | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
603494 | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome |
603515 | Isolated female hypospadias |
603684 | KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome |
603689 | KLHL7-related Bohring-Opitz-like syndrome |
603694 | KLHL7-related Crisponi/cold-induced sweating-like syndrome |
604680 | Symptomatic form of X-linked centronuclear myopathy in female carriers |
610569 | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome |
610573 | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome |
611201 | Oculogastrointestinal-neurodevelopmental syndrome |
611207 | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome |
611216 | Aplastic anemia-intellectual disability-dwarfism syndrome |
611223 | EN1-related dorsoventral syndrome |
611237 | Parkinsonism with polyneuropathy |
611247 | Pontocerebellar hypoplasia type 11 |
611256 | Pontocerebellar hypoplasia type 12 |
613267 | Pontocerebellar hypoplasia type 13 |
613274 | Pontocerebellar hypoplasia type 14 |
615938 | Spastic paraparesis-cataracts-speech delay syndrome |
615943 | Granuloma faciale |
615954 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome |
615964 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate |
615970 | Chronic intervillositis of unknown etiology |
615983 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation |
615986 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster |
616874 | Rare disorder without a determined diagnosis after full investigation |
617294 | Twin anemia-polycythemia sequence |
617297 | Twin-reversed arterial perfusion sequence |
617301 | Selective intrauterine growth restriction |
617304 | Amniotic fluid embolism |
617408 | Classic eosinophilic pustular folliculitis |
617440 | Painful legs and moving toes syndrome |
617449 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome |
617910 | Conjunctival malignant melanoma |
617916 | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia |
617919 | F12-associated cold autoinflammatory syndrome |
617930 | Hemophilia B Leyden |
618891 | Chronic neurovisceral acid sphingomyelinase deficiency |
619233 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
619363 | NOCARH syndrome |
619367 | SAMD9L-associated autoinflammatory syndrome |
619941 | Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency |
619948 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency |
619953 | Familial hyperinflammatory lymphoproliferative immunodeficiency |
619972 | CADINS disease |
619979 | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome |
620102 | Non-syndromic unicoronal craniosynostosis |
620113 | Non-syndromic unilambdoid craniosynostosis |
620139 | Non-syndromic unifrontosphenoidal craniosynostosis |
620146 | Non-syndromic unisquamosal craniosynostosis |
620158 | Non-syndromic non-specific multisutural craniosynostosis |
620178 | Non-syndromic bilambdoid craniosynostosis |
620186 | Non-syndromic unicoronal and sagittal craniosynostosis |
620192 | Non-syndromic metopic and sagittal craniosynostosis |
620198 | Non-syndromic bicoronal and metopic craniosynostosis |
620205 | Non-syndromic bicoronal and sagittal craniosynostosis |
620212 | Non-syndromic pansynostosis |
620217 | Bartter syndrome type 1 |
620220 | Bartter syndrome type 2 |
620363 | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome |
620368 | EGF-related primary hypomagnesemia with intellectual disability |
620371 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation |
621758 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
622099 | Superior mesenteric artery syndrome |
622925 | X-linked severe syndromic thoracic aortic aneurysm and dissection |
622934 | SBDS-related severe neonatal spondylometaphyseal dysplasia |
623615 | Autoimmune limbic encephalitis |
623626 | Paraneoplastic cerebellar degeneration |
623695 | MIR140-related spondyloepiphyseal dysplasia |
623789 | Body integrity dysphoria |
623801 | Acute flaccid myelitis |
624166 | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies |
624178 | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies |
624190 | Paraneoplastic isolated brainstem encephalitis |
624199 | Non-specific autoimmune brainstem encephalitis with characteristic antibodies |
624216 | Non-specific autoimmune brainstem encephalitis without characteristic antibodies |
624244 | Postinfectious cerebellitis |
624259 | Non-specific autoimmune cerebellar ataxia with characteristic antibodies |
624268 | Non-specific autoimmune cerebellar ataxia without characteristic antibodies |
631068 | Autosomal dominant spastic paraplegia type 80 |
631073 | Autosomal recessive spastic paraplegia type 82 |
631076 | Autosomal recessive spastic paraplegia type 83 |
631079 | Autosomal recessive spastic paraplegia type 84 |
631082 | Autosomal recessive spastic paraplegia type 85 |
631085 | Autosomal recessive spastic paraplegia type 86 |
631088 | Autosomal recessive spastic paraplegia type 87 |
631095 | Spinocerebellar ataxia type 44 |
631103 | Spinocerebellar ataxia type 48 |
631106 | Spinocerebellar ataxia type 49 |
631248 | Mitchell Syndrome |
631251 | Cancer of unknown primary site |
632603 | Mesomelic dysplasia-digital anomalies-intellectual disability syndrome |
633004 | KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome |
633014 | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome |
633021 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome |
633024 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome |
633028 | CPE-related Prader-Willi-like syndrome |
633035 | Intellectual disability-early-onset cataract-microcephaly syndrome |
633076 | Split cord malformation, composite type |
633099 | PAICS deficiency |
633124 | Invasive scopulariopsis infection |
633211 | Preaxial digit brachydactyly-webbed fingers |
633228 | Isolated proximal femoral focal deficiency |
634461 | Mosaic neurofibromatosis type 1 |
634475 | Mosaic NF2-related schwannomatosis |
634492 | Mosaic schwannomatosis |
634511 | Mosaic Legius syndrome |
636941 | Vascular Ehlers-Danlos-polymicrogyria syndrome |
636945 | Invasive candidiasis |
636950 | Glaucomatocyclitic crisis disease |
636955 | Endemic pemphigus foliaceus |
636965 | Autosomal dominant myosin storage myopathy |
636970 | Autosomal recessive myosin storage myopathy |
637013 | SMARCA2-related blepharophimosis-intellectual disability syndrome |
637051 | Borna virus encephalitis |
637061 | Isolated optic nerve hypoplasia |
637064 | Isolated optic nerve aplasia |
641350 | Immunotherapy induced hypophysitis |
641353 | Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome |
641361 | Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome |
641368 | Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency |
641372 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) |
641375 | B-lymphoblastic leukemia/lymphoma with t(17;19) |
641380 | PAPASH syndrome |
641385 | PASS syndrome |
641390 | PsAPASH syndrome |
641396 | Central nervous system tuberculosis |
641496 | Childhood-onset schizophrenia |
641829 | Neonatal compartment syndrome |
642071 | Primary pulmonary vein stenosis |
642085 | EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity |
642099 | Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type |
642671 | Familial hyperaldosteronism type IV |
642675 | CHD8 overgrowth syndrome |
642691 | Fragile X-associated primary ovarian insufficiency |
642747 | PUM1-related cerebellar ataxia |
642763 | Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation |
642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma |
642945 | Perrault syndrome type 1 |
642954 | Autosomal recessive ataxia due to PEX16 deficiency |
642965 | Autosomal recessive ataxia due to PEX2 deficiency |
642976 | Perrault syndrome type 2 |
643503 | Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome |
643538 | Hao-Fountain syndrome due to USP7 mutation |
643549 | Hao-Fountain syndrome |
645188 | Spinal dermal sinus |
645285 | Chaotic conus spinal cord lipoma |
645288 | Terminal extramedullary conus spinal cord lipoma |
645291 | Transitional extramedullary conus spinal cord lipoma |
645294 | Posterior extramedullary conus spinal cord lipoma |
645297 | Extramedullary conus spinal cord lipoma |
645300 | Lipomatous non-saccular limited dorsal myeloschisis |
645310 | Fibroneural non-saccular limited dorsal myeloschisis |
645322 | Isolated transitional filum lipoma |
645325 | Isolated filum lipoma |
645334 | Retained medullary cord |
645337 | Terminal myelocystocele |
645340 | Non-terminal myelocystocele |
645343 | Non-saccular limited dorsal myeloschisis |
645350 | Segmental arterial mediolysis |
645354 | Saccular limited dorsal myeloschisis |
645359 | Intramedullary non-dysraphic spinal cord lipoma |
645362 | Dorsal spinal cord lipoma |
645378 | Myelic limited dorsal malformation |
645383 | True myelomeningocele |
645388 | Hemi-myelomeningocele |
645393 | Hemi-myeloschisis |
645398 | Myeloschisis |
645401 | True myeloschisis |
645613 | Classical dermatomyositis |
645617 | Amyopathic dermatomyositis |
645626 | Adermatopathic dermatomyositis |
645749 | Congenital esophageal stenosis |
645793 | Spontaneous intestinal perforation |
645807 | Primary tuberculous lymphadenitis |
645814 | Primary pulmonary tuberculosis |
645822 | Primary bone and joint tuberculosis |
645849 | Primary cutaneous tuberculosis |
645854 | Multifocal tuberculosis |
645859 | Primary tuberculosis of the digestive system |
645874 | Primary genito-urinary tuberculosis |
646113 | Intermediate collagen VI-related muscular dystrophy |
646136 | Dysplastic cortical hyperostosis, Al-Gazali type |
646139 | Dysplastic cortical hyperostosis |
646278 | CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome |
647667 | Mandibuloacral dysplasia associated to MTX2 |
647676 | Multiple epiphyseal dysplasia type 7 |
647681 | Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome |
647772 | Isolated primary pigmented nodular adrenocortical disease |
647782 | Isolated micronodular adrenocortical disease |
647788 | Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome |
647794 | Isolated persistent urogenital sinus |
647799 | MYT1L-related developmental delay-intellectual disability-obesity syndrome |
647804 | Combined immunodeficiency due to FCHO1 deficiency |
647811 | Cardiac-urogenital syndrome |
647815 | Keratitis fugax hereditaria |
647823 | Idiopathic pregnancy-associated osteoporosis |
647834 | SLC40A1-related hemochromatosis |
647916 | Conjoined twins |
648562 | Ferroportin disease |
648581 | Digenic hemochromatosis |
648665 | Infectious scleritis |
648675 | Idiopathic scleritis |
648681 | Immune-mediated scleritis |
648684 | Central retinal artery occlusion |
648919 | Idiopathic catatonia |
648992 | Non-syndromic bridging bronchus |
649010 | Non-syndromic congenital bronchial atresia |
649029 | Isolated left bronchial isomerism |
650077 | Genetic central precocious puberty in female |
650082 | Secondary central precocious puberty in female |
650087 | Primary central precocious puberty in male |
650092 | Secondary central precocious puberty in male |
650097 | Genetic central precocious puberty in male |
650102 | Non-genetic central precocious puberty in male |
652487 | Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome |
652514 | Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation |
652519 | Cleft palate-congenital heart defect-intellectual disability syndrome |
652522 | Periodic fever-immunodeficiency-thrombocytopenia syndrome |
652528 | Non-syndromic supernumerary kidneys |
652532 | Adult-onset progressive leukoencephalopathy-early-onset deafness |
652650 | Nodal T-follicular helper cell lymphoma, follicular type |
652658 | Monomorphic epitheliotropic intestinal T-cell lymphoma |
652668 | Primary superior vena cava aneurysm |
652678 | Primary inferior vena cava aneurysm |
652681 | Idiopathic subglottic stenosis |
653698 | Lymphocytic mastitis |
653709 | Cone rod dystrophy-short stature syndrome |
653712 | CHD4-related neurodevelopmental disorder |
653722 | Digenic Alport syndrome |
653725 | Autosomal recessive limb-girdle muscular dystrophy, type 28 |
653728 | Congenital insensitivity to pain syndrome, Marsili type |
653751 | X-linked combined immunodeficiency due to SASH3 deficiency |
653767 | Jansen-de Vries syndrome |
653880 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
656071 | Atrophic papulosis |
656085 | Benign atrophic papulosis |
656126 | Segmental spinal dysgenesis |
656130 | PBX1-related congenital anomalies of kidney and urinary tract syndrome |
656135 | Intellectual disability-cupped ears syndrome |
656279 | 1p36.33 duplication syndrome |
656283 | Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency |
656300 | Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency |
656313 | Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency |
656326 | Autosomal recessive combined immunodeficiency due to IL6R deficiency |
656417 | Embryonal tumor with multilayered rosettes |
656912 | Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
658540 | 16q22 deletion syndrome |
658549 | Idiopathic small fibers neuropathy |
658574 | Isolated pulmonary artery sling |
658584 | Rowell syndrome |
658590 | Eyelid sebaceous carcinoma |
658595 | DNMT3A-related microcephalic dwarfism |
658602 | Transplant-related bronchiolitis obliterans |
658612 | Non-transplant-related bronchiolitis obliterans |
658778 | COQ7-related distal hereditary motor neuropathy |
658805 | Greig cephalopolysyndactyly-contiguous gene syndrome |
658810 | Atrophoderma of Pasini and Pierini |
658813 | Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency |
658843 | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome |
658909 | Fasciolopsiasis |
658913 | Paragonimiasis |
658917 | Clonorchiasis |
658946 | Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency |
658951 | Early-onset immune dysregulation due to DOCK11 complete deficiency |
659396 | Cohen-Gibson syndrome |
659463 | Imagawa-Matsumoto syndrome |
659609 | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome |
659626 | Single isolated optic neuritis |
659634 | Relapsing isolated optic neuritis |
659642 | Rauch-Steindl syndrome |
659672 | Harderoporphyria |
659702 | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome |
659707 | Yersinia pseudotuberculosis infection |
659744 | Ocular surface squamous neoplasia |
659756 | Oroya fever |
659759 | Verruga peruana |
659873 | Wormian bones-micrognathia-abnormal dentition-progeroid syndrome |
659904 | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome |
659908 | Glanders |
659975 | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome |
660012 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation |
660017 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome |
660021 | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome |
660053 | Psittacosis |
661412 | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency |
661526 | MBD4-related tumor predisposition syndrome |
662169 | Phelan-McDermid syndrome due to 22q13.3 deletion |
662172 | Phelan-McDermid syndrome due to SHANK3 mutation |
662175 | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome |
662179 | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome |
662184 | Congenital muscular dystrophy-cataract-intellectual disability syndrome |
662189 | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome |
662198 | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome |
662207 | Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome |
662216 | Mucopolysaccharidosis type 10 |
662229 | Episodic memory defect leukoencephalopathy |
662234 | Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome |
662240 | Frey syndrome |
662255 | Grisel syndrome |
662367 | NESCAV syndrome |
662376 | Gastric duplication |
662388 | Gallbladder duplication |
662392 | Colonic duplication |
662405 | Pyloric duplication |
662456 | Small intestine duplication |
662473 | Duodenal duplication |
662480 | Jujeno-ileal duplication |
662721 | Placenta accreta spectrum disorder |
662762 | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome |
662786 | Vasa previa |
662829 | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome |
662934 | Acute megakaryoblastic leukemia in adult |
664372 | Soft and hard cleft palate |
664377 | MGP-related spondyloepiphyseal dysplasia |
664401 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation |
664404 | 6q25.1 microdeletion syndrome |
664410 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome |
664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation |
664430 | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome |
664438 | Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome |
664500 | Hermansky-Pudlak syndrome due to AP3B1 deficiency |
664511 | Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency |
664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency |
664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency |
664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency |
664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency |
664787 | Nicolau syndrome |
664901 | Trigeminal trophic syndrome |
664912 | Neonatal renal venous thrombosis |
664923 | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome |
665044 | Common arterial trunk with aortic dominance |
665058 | Common arterial trunk with pulmonary dominance and interrupted aortic arch |
667589 | Isolated congenital femoral bifurcation |
667662 | Breast implant-associated anaplastic large cell lymphoma |
667678 | Intraoral basal cell carcinoma |
672979 | Craniosynostosis-facial dysmorphism-brachydactyly syndrome |
672985 | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome |
673525 | Intravascular papillary endothelial hyperplasia |
673538 | Littoral cell hemangioma of the spleen |
673543 | Papillary hemangioma |
673556 | Pseudomyogenic hemangioendothelioma |
673568 | Eccrine angiomatous hamartoma |
673574 | Reactive angioendotheliomatosis |
673580 | Classic pilocytic astrocytoma |
673585 | Pilocytic astrocytoma with histological features of anaplasia |
674653 | Actinomyopathy-associated syndromic thrombocytopenia |
674762 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency |
674924 | Isolated retinal racemose hemangioma |
674930 | Perifoveal exudative vascular anomalous complex |
674935 | Torpedo Maculopathy |
674943 | Isolated angioid streaks |
674947 | Diffuse unilateral subacute neuroretinitis |
674953 | Multiple evanescent white dot syndrome |
674958 | Stellate multiform amelanotic choroidopathy |
674965 | Choroidal osteoma |
674968 | Bilateral diffuse uveal melanocytic proliferation disease |
675216 | Spinocerebellar ataxia type 27B |
675359 | Anastomosing haemangioma |
675362 | Hobnail hemangioma |
675369 | Microvenular haemangioma |
675380 | Isolated segmental infantile hemangioma |
675396 | Epithelioid hemangioma |
675404 | May-Thurner syndrome |
675597 | Acquired elastotic haemangioma |
675628 | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome |
675767 | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency |
675775 | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome |
675782 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN |
675814 | Adenomatoid tumour of the pleura |
675822 | Well-differentiated papillary mesothelial tumour of the pleura |
675833 | Localized pleural mesothelioma |
675837 | Diffused pleural mesothelioma |
675841 | Pleural mesothelioma in situ |
675976 | Adenomatoid tumour of the peritoneum |
676033 | Well-differentiated papillary mesothelial tumour of the peritoneum |
676036 | Peritoneal mesothelioma in situ |
676039 | Combined immunodeficiency due to FOXN1 haploinsufficiency |
676125 | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency |
No Expansion for this valueset (Unknown Code System)
Explanation of the columns that may appear on this page:
Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
Code | The code (used as the code in the resource instance) |
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
Definition | An explanation of the meaning of the concept |
Comments | Additional notes about how to use the code |