omimdefinitions

| Pseudohypoparathyroidism Ic, 612462 (3)
| Osseous heteroplasia, progressive, 166350 (3)
| Pseudohypoparathyroidism Ib, 603233 (3)
| * 139320 GNAS COMPLEX LOCUS| GNAS
| Acromegaly, 102200 (3)
| Pseudopseudohypoparathyroidism, 612463 (3)
| Prolonged bleeding time, brachydactyly, and mental retardation (3)
| ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
| * 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1| GNASAS1
| {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
| * 155540 MELANOCORTIN 3 RECEPTOR| MC3R
| T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
| * 603072 AURORA KINASE A| AURKA
| Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
| * 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4| CHRNA4
| Hypercalcemia, infantile, 143880 (3)
| Deafness, autosomal recessive 65 (2)
| Waardenburg syndrome, type 4B, 613265 (3)
| * 131242 ENDOTHELIN 3| EDN3
| {Hirschsprung disease, susceptibility to, 4}, 613712 (3)
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
| Epiphyseal dysplasia, multiple, 3, 600969 (3)
| * 120270 COLLAGEN, TYPE IX, ALPHA-3| COL9A3
| {Intervertebral disc disease, susceptibility to}, 603932 (3)
| Seizures, benign neonatal, 1, 121200 (3)
| * 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2| KCNQ2
| Epileptic encephalopathy, early infantile, 7, 613720 (3)
| * 606566 MYOSIN LIGHT CHAIN KINASE 2| MYLK2
| Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
| * 608833 REGULATOR OF TELOMERE ELONGATION HELICASE 1| RTEL1
| Amyotrophic lateral sclerosis 8, 608627 (3)
| Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)
| ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680 (1)
| Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
| {Mycobacterium tuberculosis, susceptibility to, 3} (2)
| * 603666 SYNTAXIN 16| STX16
| Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)
| {Glioma susceptibility 6} (2)
| Retinitis pigmentosa 60, 613983 (3)
| Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)
| {Autism susceptibility 12} (2)
| * 609252 LIPASE I| LIPI
| Narcolepsy 3 (2)
| Leukemia, transient, of Down syndrome (2)
| Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)
| * 104760 AMYLOID BETA A4 PRECURSOR PROTEIN| APP
| Enterokinase deficiency, 226200 (3)
| Usher syndrome, type 1E (2)
| Febrile seizures, familial, 7 (2)
| Tukel syndrome (2)
| * 123889 INTERLEUKIN 10 RECEPTOR, BETA| IL10RB
| Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)
| Mental retardation, autosomal dominant 7, 614104 (3)
| Holocarboxylase synthetase deficiency, 253270 (3)
| * 602376 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 2| IFNAR2
| Long QT syndrome 6, 613693 (3)
| Atrial fibrillation, familial, 4, 611493 (3)
| Glucocorticoid deficiency 2, 607398 (3)
| * 147450 SUPEROXIDE DISMUTASE 1| SOD1
| * 147569 INTERFERON-GAMMA RECEPTOR 2| IFNGR2
| Jervell and Lange-Nielsen syndrome 2, 612347 (3)
| Long QT syndrome 5, 613695 (3)
| Ciliary dyskinesia, primary, 26, 615500 (3)
| {Major affective disorder 3, early onset} (2)
| [Bone mineral density QTL 6] (2)
| Parkinson disease 20, early-onset, 615530 (3)
| Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
| Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
| * 613381 CYSTATHIONINE BETA-SYNTHASE| CBS
| Deafness, autosomal recessive 29, 614035 (3)
| * 120220 COLLAGEN, TYPE VI, ALPHA-1| COL6A1
| Ullrich congenital muscular dystrophy, 254090 (3)
| * 120240 COLLAGEN, TYPE VI, ALPHA-2| COL6A2
| Ullrich congenital muscular dystrophy, 254090 (3)
| Myosclerosis, congenital, 255600 (3)
| Knobloch syndrome, type 1, 267750 (3)
| Cataract 9, multiple types, 604219 (3)
| Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
| Down syndrome (4)
| Glutamate formiminotransferase deficiency, 229100 (3)
| Holoprosencephaly-1 (2)
| Leukocyte adhesion deficiency, 116920 (3)
| Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
| * 171860 PHOSPHOFRUCTOKINASE, LIVER TYPE| PFKL
| Popliteal pterygium syndrome 2, lethal type, 263650 (3)
| Ciliary dyskinesia, primary, 24, 615481 (3)
| * 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1| RUNX1
| Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
| Deafness, autosomal recessive 8/10, 601072 (3)
| Deafness, autosomal recessive 98, 614861 (3)
| Cayler cardiofacial syndrome (2)
| Cat eye syndrome (4)
| Thrombophilia due to heparin cofactor II deficiency, 612356 (3)
| Schindler disease, type I, 609241 (3)
| Kanzaki disease, 609242 (3)
| * 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE| NAGA
| * 605566 RETICULON 4 RECEPTOR| RTN4R
| Van den Ende-Gupta syndrome, 600920 (3)
| Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
| Rhabdoid tumors, somatic, 609322 (3)

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