omimdefinitions

| Carotid intimal medial thickness 1, 609338 (3)
| {Diabetes, type 2}, 125853 (3)
| Noonan syndrome 5, 611553 (3)
| LEOPARD syndrome 2, 611554 (3)
| * 602011 SUPPRESSOR OF TUMORIGENICITY 11| ST11
| * 600755 SYNAPSIN II| SYN2
| Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
| Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
| Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
| Fuhrmann syndrome, 228930 (3)
| Xeroderma pigmentosum, group C, 278720 (3)
| {Ovarian cancer, susceptibility to} (2)
| Pontocerebellar hypoplasia type 2B, 612389 (3)
| Muscular dystrophy, limb-girdle, type 1H (2)
| {Osteoarthritis susceptibility 6} (2)
| Thyroid hormone resistance, 188570 (3)
| Thyroid hormone resistance, autosomal recessive, 274300 (3)
| Thyroid hormone resistance, selective pituitary, 145650 (3)
| ?Diamond-Blackfan anemia 12, 615550 (3)
| Febrile seizures, familial, 9 (2)
| * 601486 DELETED IN AZOOSPERMIA-LIKE| DAZL
| Congenital disorder of glycosylation, type Iv, 615273 (3)
| Microphthalmia, syndromic 12, 615524 (3)
| Neuropathy, hereditary sensory, type IB (2)
| {Asperger syndrome susceptibility 4} (2)
| ?Congenital disorder of glycosylation, type Ix, 615597 (3)
| Small-cell cancer of lung (2)
| Forebrain defects (3)
| Brugada syndrome 2, 611777 (3)
| Developmental dysplasia of the hip 2 (2)
| Episodic pain syndrome, familial, 2, 615551 (3)
| Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
| Episodic pain syndrome, familial, 3, 615552 (3)
| Myopathy, hyaline body (2)
| Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
| Mental retardation, autosomal dominant 19, 615075 (3)
| * 116806 CATENIN, BETA-1| CTNNB1
| Pilomatricoma, somatic, 132600 (3)
| Ovarian cancer, somatic, 167000 (3)
| Hepatocellular carcinoma, somatic, 114550 (3)
| Nemaline myopathy 8, autosomal recessive, 615348 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
| Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
| Gray platelet syndrome, 139090 (3)
| Osteogenesis imperfecta, type VII, 610682 (3)
| {Human herpesvirus 8, susceptibility to} (2)
| Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
| Esophageal cancer, somatic, 133239 (3)
| Loeys-Dietz syndrome, type 2, 610168 (3)
| Heterotaxy, visceral, 4, autosomal, 613751 (3)
| * 604050 DELETED IN LUNG AND ESOPHAGEAL CANCER 1| DLEC1
| Esophageal cancer, 133239 (1)
| Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
| Macroglobulinemia, Waldenstrom, somatic, 153600 (3)
| Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
| Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)
| Chondrodysplasia, Blomstrand type, 215045 (3)
| Eiken syndrome, 600002 (3)
| Failure of tooth eruption, primary, 125350 (3)
| GM1-gangliosidosis, type I, 230500 (3)
| GM1-gangliosidosis, type II, 230600 (3)
| GM1-gangliosidosis, type III, 230650 (3)
| Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
| Hodgkin lymphoma, 236000 (3)
| * 612911 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3| NDUFAF3
| Carnitine-acylcarnitine translocase deficiency, 212138 (3)
| Zygodactyly 1 (2)
| Tumor predisposition syndrome, 614327 (3)
| * 602441 CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN| CISH
| {Malaria, susceptibility to}, 611162 (3)
| {Bacteremia, susceptibility to}, 614383 (3)
| Epidermolysis bullosa dystrophica, AD, 131750 (3)
| Epidermolysis bullosa dystrophica, AR, 226600 (3)
| Epidermolysis bullosa, pretibial, 131850 (3)
| EBD, Bart type, 132000 (3)
| * 120120 COLLAGEN, TYPE VII, ALPHA-1| COL7A1
| Transient bullous of the newborn, 131705 (3)
| Epidermolysis bullosa pruriginosa, 604129 (3)
| Toenail dystrophy, isolated, 607523 (3)
| EBD inversa, 226600 (3)
| Cataract 18, autosomal recessive, 610019 (3)
| Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
| {Inflammatory bowel disease 12} (2)
| Asplenia, isolated congenital, 271400 (3)
| Perrault syndrome 4, 615300 (3)
| * 606568 LEUCINE ZIPPER TRANSCRIPTION FACTOR-LIKE 1| LZTFL1
| Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
| * 120436 MutL, E. COLI, HOMOLOG OF, 1| MLH1
| Muir-Torre syndrome, 158320 (3)
| * 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1| RASSF1
| Hyperglycinuria, 138500 (3)
| Iminoglycinuria, digenic, 242600 (3)
| Ciliary dyskinesia, primary, 22, 615444 (3)
| Mucopolysaccharidosis type IX, 601492 (3)
| Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
| Chilblain lupus, 610448 (3)
| Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)

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