omimdefinitions

| Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
| Epilepsy, familial mesial temporal lobe (2)
| Hyaline fibromatosis syndrome, 228600 (3)
| Chromosome 4q21 deletion syndrome (4)
| Hypophosphatemic rickets, AR, 241520 (3)
| Amelogenesis imperfecta, type IB, 104500 (3)
| Amelogenesis imperfecta, type IC, 204650 (3)
| Fraser syndrome, 219000 (3)
| Limb-girdle muscular dystrophy, type 1G (2)
| Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
| Parkinson disease 4, 605543 (3)
| * 163890 SYNUCLEIN, ALPHA| SNCA
| Parkinson disease 1, 168601 (3)
| Coenzyme Q10 deficiency, primary, 1, 607426 (3)
| {Multiple system atrophy, susceptibility to}, 146500 (3)
| Polycystic kidney disease 2, 613095 (3)
| {Autism, susceptibility to, 19}, 615091 (3)
| * 179502 RAP1, GTPase-GDP DISSOCIATION STIMULATOR 1| RAP1GDS1
| Orofacial cleft 4 (2)
| Amelogenesis imperfecta type, IIA4, 614832 (3)
| Hypogonadotropic hypogonadism 7 with or without anosmia, 146110 (3)
| Fertile eunuch syndrome, 228300 (3)
| Dentinogenesis imperfecta, Shields type II, 125490 (3)
| Deafness, autosomal dominant 36, with dentinogenesis, 605594 (3)
| Dentinogenesis imperfecta, Shields type III, 125500 (3)
| Dentin dysplasia, type II, 125420 (3)
| [Junior blood group system], 614490 (3)
| [Uric acid concentration, serum, QTL1], 138900 (3)
| {Alcohol dependence, protection against}, 103780 (3)
| {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
| * 103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE| ADH1C
| {Parkinson disease, susceptibility to}, 168600 (3)
| [Musical aptitude QTL 1] (2)
| Adermatoglyphia, 136000 (3)
| * 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1| BANK1
| Abetalipoproteinemia, 200100 (3)
| * 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD| MTP
| Wolfram syndrome 2, 604928 (3)
| Mannosidosis, beta, 248510 (3)
| 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
| Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)
| Myopia 11 (2)
| Maple syrup urine disease, mild variant, 615135 (3)
| Huriez syndrome (2)
| Brachydactyly, type A2, 112600 (3)
| Chrondrodysplasia, acromesomelic, with genital anomalies, 609441 (3)
| Sebaceous tumors, somatic (3)
| Leukodystrophy, hypomyelinating, 3, 260600 (3)
| {Migraine with or without aura, susceptibility to, 1} (2)
| Albinism, oculocutaneous, type V (2)
| * 612839 TET ONCOGENE FAMILY, MEMBER 2| TET2
| Epilepsy, hot water, 2 (2)
| {Atrial fibrillation, familial, 5} (2)
| Complement factor I deficiency, 610984 (3)
| {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
| {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
| Spastic paraplegia 56, autosomal recessive, 615030 (3)
| Hypomagnesemia 4, renal, 611718 (3)
| Alazami syndrome, 615071 (3)
| [Longevity 1] (2)
| Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
| Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)
| Axenfeld-Rieger syndrome, type 1, 180500 (3)
| Iridogoniodysgenesis, type 2, 137600 (3)
| Ring dermoid of cornea, 180550 (3)
| * 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2| PITX2
| Mental retardation, autosomal recessive 1, 249500 (3)
| Long QT syndrome 4, 600919 (3)
| * 106410 ANKYRIN 2| ANK2
| * 147680 INTERLEUKIN 2| IL2
| ?Immunodeficiency, common variable, 11, 615767 (3)
| Cardiomyopathy, familial hypertrophic, 16, 613838 (3)
| {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)
| * 607590 BBS7 GENE| BBS7
| * 610683 BBS12 GENE| BBS12
| {Celiac disease, susceptibility to, 6} (2)
| {Autoimmune disease, susceptibility to, 5} (2)
| {Diabetes mellitus, insulin-dependent, 23} (2)
| Brittle cornea syndrome 2, 614170 (3)
| Mental retardation, autosomal recessive 29 (2)
| Dysfibrinogenemia, alpha type, causing bleeding diathesis (3)
| Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3)
| Amyloidosis, hereditary renal, 105200 (3)
| Afibrinogenemia, congenital, 202400 (3)
| * 134830 FIBRINOGEN, B BETA POLYPEPTIDE| FGB
| Afibrinogenemia, congenital, 202400 (3)
| Thrombophilia, dysfibrinogenemic (3)
| * 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE| FGG
| Hypofibrinogenemia, gamma type (3)
| Thrombophilia, dysfibrinogenemic (3)
| [Blood group, Ss] (3)
| {Malaria, resistance to}, 611162 (3)
| [Blood group, Stoltzfus system] (2)
| Van Maldergem syndrome 2, 615546 (3)
| Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
| [Blood group, MN] (3)
| {Malaria, resistance to}, 611162 (3)
| Aortic aneurysm, familial abdominal 2 (2)
| Deafness, autosomal recessive 26 (2)
| Retinal dystrophy, early-onset severe, 613341 (3)

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