| Condition | OMIM | Inheritance | Population |
|---|
| A |
|
|
|
| Adducted thumb syndrome |
201550 |
AR |
OOA |
| Adenomatous polyposis of the colon |
175100 |
AD |
DGM |
| Adenosine deaminase deficiency |
102700 |
AR |
MEN, OOA, APA |
| Adrenal hyperplasia II |
201810 |
AR |
APA
|
| Adrenal hyperplasia IV |
202010 |
AR
|
APA |
| Adrenal hyperplasia V |
202110, 609300 |
AR |
DGM |
| Albinism, oculocerebrocutaneous syndrome, Cross type |
257800 |
AR
|
MEN |
| Albinism, oculocutaneous, yellow mutant, type 1B |
606952 |
AR |
OOA |
| Aldosterone deficiency I |
203400 |
AR |
APA |
| Alpha-1 antitrypsin deficiency |
107400, 613490 |
AR |
APA |
| Alstrom syndrome |
203800 |
AR |
DGM |
| Amyotrophic lateral sclerosis 2, juvenile onset |
205100 |
AR(?) |
APA |
| Androgen insensitivity syndrome |
300068 |
X-linked |
HUT |
| Arthrogryposis, dysmyelinization, craniostenosis, cleft palate |
201550 |
AR |
OOA |
| Ataxia-telangiectasia |
208900 |
AR |
OOA, DGM |
| B |
|
|
|
| Bardet-Biedl syndrome |
209900, 606151 |
AR |
APA |
| Bartter syndrome (Gitelman syndrome variant) |
263800, 241200, 602023 |
AR |
OOA, MEN |
| Beaulieu-Boycott-Innes Syndrom; BBIS |
613680 |
AR(?) |
HUT |
| 3-Beta-Hydroxysteroid dehydrogenase deficiency |
201810 |
AR (?) |
APA |
| Biotin (biotinidase) deficiency |
253260, 253270 |
AR |
MEN |
| Bloom syndrome |
210900 |
AR |
DGM |
| Bowen-Conradi syndrome |
211180 |
AR |
HUT |
| Brittle hair syndrome, Amish type |
234050 |
AR |
OOA |
| Byler disease |
211600 |
AR |
APA |
| C |
|
|
|
| Cardiomyopathy, dilated, with ataxia |
610198 |
AR |
HUT, APA |
| Cardiomyopathy, hypertrophic |
600958 |
AR |
OOA, DGM |
| Carnitine palmitoyl transferase I deficiency |
255120 |
AR |
HUT |
| Cartilage-hair hypoplasia |
250250 |
AR |
OOA |
| Cataract, juvenile |
212500 |
AR |
HUT |
| Cerebellar hypoplasia (VLDR-associated) |
224050 |
AR |
HUT |
| Cerebro-osteo-nephrodysplasia |
236450 |
AR |
HUT |
| Charcot-Marie-Tooth Disease |
214400 |
AR |
OOA |
| Cholestasis, familial intrahepatic |
211600 |
AR |
APA |
| Chorioretinopathy with microcephaly |
251270 |
AR |
MEN |
| Chudley-McCullough syndrome |
604213 |
AR |
DGM |
| Cleft palate with ankyloglossia |
303400 |
X-linked |
DGM |
| Cleidocranial dysostosis |
119600 |
AD |
MEN |
| CODAS syndrome |
600373 |
AR |
DGM |
| Cohen syndrome |
216550 |
AR |
OOA |
| Congenital glaucoma |
231300 |
AR |
OOA |
| Congenital hypothyroidism |
218700 |
AR |
OOA |
| Congenital nephrotic syndrome, Finnish type |
256300 |
AR |
MEN |
| Congenital nystagmus |
310700 |
X-linked/AR/AD |
OOA |
| Congenital sodium diarrhea |
270420 |
AR |
OOA |
| Congenital stationary night blindness, type 1A |
310500 |
X-linked |
DGM |
| Congenital stationary night blindness, type 2A |
300071 |
X-linked/AR/AD |
DGM |
| Cortical dysplasia-focal epilepsy syndrome |
610042 |
AR |
APA |
| Corticosterone methyloxidase type I deficiency |
203400 |
AR |
APA |
| Cortisol 11-beta-ketoreductase deficiency |
218030 |
AR |
MEN |
| Crigler-Najjar syndrome Type I |
218800 |
AR |
MEN |
| Cystic fibrosis |
219700 |
AR |
OOA, DGM, MEN, HUT |
| Cystinosis |
219800 |
AD (?) |
OOA |
| Cystinuria |
220100 |
AR |
MEN |
| D |
|
|
|
| Deafness, cochlear plus |
221200 |
AR (?) |
APA |
| Deafness, non-syndromic recessive |
220290 |
AR, AD, X-linked |
APA, MEN |
| Desmoid disease |
135290 |
AD |
OOA |
| Diarrhea, congenital sodium |
270420 |
AR |
OOA |
| Dystonia 1 |
128100 |
AD |
MEN |
| Dystonia 6 |
602629 |
AD |
MEN |
| E |
|
|
|
| ECO syndrome |
612651 |
AR |
OOA |
| Ellis-van Creveld syndrome |
225500 |
AR |
OOA |
| Epidermolysis bullosa lethalis |
226700 |
AR |
OOA |
| Episodic ataxia, type 3 |
606554 |
AD |
DGM |
| F |
|
|
|
| Factor V Leiden heterozygosity |
602319 |
AD |
OOA |
| Familial dysalbuminemic hyperthyroxinemia |
103600 |
AD |
OOA |
| G |
|
|
|
| Gilles de la Tourette syndrome |
137580 |
AD |
DGM |
| Gitelman syndrome (variant of Bartter syndrome) |
263800 |
AR |
OOA, MEN |
| Glutaric aciduria type 1 |
231670 |
AR |
APA |
| Glycogen storage disease, type 6 |
232700 |
AR |
MEN |
| GM3 synthase deficiency |
609056 |
AR |
OOA |
| H |
|
|
|
| Hairy elbows |
139600 |
AD |
APA |
| Hallervorden-Spatz disease |
234200, 606157 |
AR |
OOA |
| Hemophagocytic lymphohistocytosis 1 |
267700 |
AR |
DGM |
| Hemophilia B – factor IX deficiency |
306900 |
X-linked |
OOA |
| Hereditary non-polyposis colon cancer |
120435, 609310 |
AD |
DGM |
| Hirschprung diseases, susceptibility to |
277580, 600155 |
AR(?) |
MEN |
| Homocystinuria (MTHFR type) |
236200, 236250 |
AR |
APA |
| Hypercholanemia, familial |
607748 |
AR, AD |
APA |
| Hypertrichiasis cubiti, familial |
139600 |
AD |
APA |
| Hypertrophic cardiomyopathy |
600958 |
AR |
OOA, DGM |
| Hypophosphatasia |
241500 |
AR |
DMG, HUT |
| Hypothyroidism, congenital |
218700 |
AR(?) |
OOA |
| I |
|
|
|
Immunodeficiency, neutropenic
|
610798 |
AR |
MEN |
| Infantile Refsum disease |
266510 |
AR |
OOA |
| ITCH Autoimmune Disease |
613385 |
AR |
OOA |
| J |
|
|
|
| Jackson-Weiss syndrome |
123150 |
AD |
OOA |
| Jervell and Lange-Nielsen syndrome |
220400 |
AR, AD |
OOA |
| Joubert syndrome (JSRD) |
213300 |
AR |
HUT |
| K |
|
|
|
| Kabuki syndrome |
147920 |
? |
OOA |
| L |
|
|
|
| Leigh syndrome |
256000 |
mitochondrial, AR |
DGM, HUT |
| Limb-girdle muscular dystrophy, type 2A |
253600 |
AR |
OOA |
| Limb-girdle muscular dystrophy, type 2E |
604286 |
AR |
OOA |
| Limb-girdle muscular dystrophy, type 2H |
254110 |
AR |
HUT |
| Limb-girdle muscular dystrophy, type 2I |
607155 |
AR |
HUT |
| Long QT interval |
220400 |
AR |
OOA |
| LYK5 deficiency |
611087 |
AR |
MEN |
| M |
|
|
|
| Malignant hyperthermia, susceptibility to |
145600 |
AD |
DGM |
| Maple syrup urine disease |
248600 |
AR |
MEN |
| Mast syndrome |
248900 |
AR |
OOA |
| MCADH, MCAD, ACADM |
201450 |
AR |
MEN |
| MCCC2 deficiency |
210210 |
AR |
APA, MEN |
| Medium-chain acyl-CoA dehydrogenase deficiency |
201450 |
AR |
MEN |
| McKusick-Kauffman syndrome |
236700 |
AR |
OOA |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
210210 |
AR |
APA, MEN |
| Methylmalonic aciduria |
251000 |
AR |
HUT |
| Mevalonate kinase deficiency |
251170 |
AR |
MEN |
| Microcephalic osteodysplastic primordial dwarfism |
210710, 210720, 210730 |
AR(?) |
OOA |
| Microcephaly, Amish type |
607196 |
AR |
APA |
| Mitochondrial DNA depletion syndrome |
609560 |
AR |
DGM |
| Moyamoya disease 1 |
252350 |
? |
OOA |
| Mucopolysaccharidosis, type VII |
253220 |
AR |
MEN |
| Muscular dystrophy, limb girdle, type 2A |
253600 |
AR |
OOA |
| Muscular dystrophy, limb girdle, type 2E |
604286 |
AR |
OOA |
| Muscular dystrophy, limb girdle, type 2H |
254110 |
AR |
HUT |
| Muscular dystrophy, limb girdle, type 2I |
607155 |
AR |
HUT |
| N |
|
|
|
| Nanophthalmos |
609549 |
AR |
MEN |
| Nemaline myopathy 5 (Amish type) |
605355 |
AR |
OOA |
| Neutropenic immunodeficiency, plus |
610798 |
AR |
MEN |
| O |
|
|
|
Oculo-reno-cerebellar sydrome
|
257970 |
AR(?) |
DGM |
| Oculocerebrocutaneous syndrome with hypopigmentation, Cross type |
257800 |
AR |
MEN |
| Omenn syndrome |
603554 |
AR |
OOA |
| Osteodysplastic primordial dwarfism |
210710, 210720, 210730 |
AR(?) |
OOA |
| Osteogenesis imperfecta, type I |
166200 |
AD |
APA |
| Osteopenia and sparse hair |
259690 |
AR(?) |
MEN |
| Osteoporosis-pseudoglioma syndrome |
259770 |
AR |
MEN |
| P |
|
|
|
| Pantothenate kinase 2 |
234200, 606157 |
AR |
OOA |
| Phenylketonuria |
261600, 261630 |
AR |
APA, OOA, MEN |
| Pierson Syndrome |
609040 |
AR |
APA |
| Pituitary dwarfism III |
262600 |
AR |
HUT |
| Plasminogen activator inhibitor-1 deficiency |
173360 |
AR |
OOA |
| Polycystic kidney disease |
608002 |
AR |
OOA |
| Prolidase deficiency |
170100 |
AR |
OOA |
| Propionic acidemia |
606054 |
AR |
OOA, MEN |
| Protease inhibitor 1 |
107400 |
AR |
APA |
| Pyruvate kinase deficiency |
266200 |
AR |
OOA |
| Q |
|
|
|
| R |
|
|
|
| Renpenning syndrome 1 |
309500 |
X-linked |
DGM |
| Restrictive dermopathy |
275210 |
AR |
DGM, HUT |
| Retinitis Pigmentosa with Ataxia |
609033 |
AR |
MEN |
| S |
|
|
|
| Salla disease |
604369 |
AR |
MEN |
| Senior-Loken syndrome 1 |
266900 |
AR |
OOA, MEN |
| Severe combined immunodeficiency (ADA deficiency) (T-, B-, NK-) |
102700 |
AR |
MEN, OOA, APA |
| Severe combined immunodeficiency (CD3D) (T-, B+, NK+) |
608971 |
AR |
DGM, APA |
| Severe combined immunodeficiency (Omenn syndrome) (T+, B-, NK+) |
603554 |
AR |
APA |
| Severe combined immunodeficiency (Swiss type) (T-, B-, NK+) |
601457 |
AR |
DGM |
| Sitosterolemia |
210250 |
AR |
APA |
| Spastic Ataxia 4, mtPAP deficiency |
613669 |
AR |
OOA |
| Spinal muscular atrophy, type 1 |
253300 |
AR |
APA, MEN, HUT |
| Spondylocostal dysostosis |
271520 |
AR(?) |
MEN |
| Sudden infant death with dysgenesis of the testes |
608800 |
AR |
OOA |
| Synpolydactyly 1 |
186000 |
AD |
OOA |
| T |
|
|
|
| Thrombasthenia, Glanzmann |
273800 |
AR |
HUT |
| Thyroid hormone dysgenesis 1 |
274400 |
AR |
HUT |
| Thyroid oxidase deficiency, 2A |
274500 |
AR |
OOA |
| Tight skin contracture syndrome |
275210 |
AR |
DGM, HUT |
| TMCO1 defect syndrome |
213980, 614123 |
AR |
APA, OOA |
| Trichothiodystrophy, nonphotosensitive 1 |
234050 |
AR |
OOA |
| Troyer syndrome |
275900 |
AR |
OOA |
| Tyrosinemia, type III |
276710 |
AR |
MEN |
| U |
|
|
|
| Usher syndrome |
602083, 276900, 614504 |
AR |
HUT, APA |
| V |
|
|
|
| Von Willebrand disease |
193400 |
AD/AR |
OOA |
| W |
|
|
|
| Waardenburg-Shah syndrome |
600155, 277580 |
AR(?) |
MEN |
| Weill-Marchesani syndrome |
277600, 608328 |
AR |
APA |
| Werdnig-Hoffmann disease |
253300 |
AR |
APA, MEN, HUT |
|
X
|
|
|
|
| Y |
|
|
|
| Z |
|
|
|
