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 |
|
|
|