omimdefinitions
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| Epileptic encephalopathy, childhood-onset, 615369 (3)
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| {Diabetes mellitus, insulin-dependent, 3} (2)
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| Mental retardation, autosomal recessive 27, 614340 (3)
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| {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
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| Lipodystrophy, familial partial, type 4, 613877 (3)
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| * 180090 RETINALDEHYDE-BINDING PROTEIN 1| RLBP1
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| Retinitis punctata albescens, 136880 (3)
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| Newfoundland rod-cone dystrophy, 607476 (3)
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| Bothnia retinal dystrophy, 607475 (3)
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| Chromosome 15q26-qter deletion syndrome (4)
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| Levy-Shanske syndrome (4)
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| Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
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| Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
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| Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3)
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| Hernia, congenital diaphragmatic 1 (2)
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| D-2-hydroxyglutaric aciduria 2, 613657 (3)
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| Hydrolethalus syndrome 2, 614120 (3)
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| Acrocallosal syndrome, 200990 (3)
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| * 611254 KINESIN FAMILY MEMBER 7| KIF7
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| Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
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| Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (2)
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| Bloom syndrome, 210900 (3)
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| Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
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| Congenital heart defects, multiple types, 4, 615779 (3)
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| Otosclerosis 1 (2)
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| Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
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| Temtamy preaxial brachydactyly syndrome, 605282 (3)
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| Thalassemias, alpha-, 604131 (3)
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| Methemoglobinemias, alpha- (3)
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| Erythremias, alpha- (3)
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| Heinz body anemias, alpha-, 140700 (3)
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| Hemoglobin H disease, nondeletional, 613978 (3)
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| * 141850 HEMOGLOBIN--ALPHA LOCUS 2| HBA2
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| Heinz body anemia, 140700 (3)
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| Erythrocytosis (3)
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| Hypochromic microcytic anemia (3)
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| Hemoglobin H disease, nondeletional, 613978 (3)
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| Alpha-thalassemia/mental retardation syndrome, type 1 (4)
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| {Coronary heart disease, susceptibility to} (2)
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| GABA-transaminase deficiency, 613163 (3)
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| Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
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| Congenital disorder of glycosylation, type Ik, 608540 (3)
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| * 603816 AXIS INHIBITOR 1| AXIN1
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| Caudal duplication anomaly, 607864 (3)
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| {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
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| * 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT| CACNA1H
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| Myopathy, centronuclear, 4, 614807 (3)
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| Rubinstein-Taybi syndrome, 180849 (3)
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| * 125505 DEOXYRIBONUCLEASE I| DNASE1
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| Chromosome 16p13.3 duplication syndrome (4)
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| Nephronophthisis 7, 611498 (3)
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| Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
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| Acid-labile subunit, deficiency of (3)
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| Lipase deficiency, combined, 246650 (3)
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| Microphthalmia with cataract 1 (2)
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| Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations (2)
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| Polycystic kidney disease, infantile severe, with tuberous sclerosis (4)
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| Kohlschutter-Tonz syndrome, 226750 (3)
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| Chromosome 16p13.3 deletion syndrome (4)
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| Spermatogenic failure 10, 614822 (3)
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| Fanconi anemia, complementation group P, 613951 (3)
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| * 182455 SOMATOSTATIN RECEPTOR 5| SSTR5
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| Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
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| Myoclonic epilepsy, infantile, familial, 605021 (3)
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| Epileptic encephalopathy, early infantile, 16, 615338 (3)
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| DOOR syndrome, 220500 (3)
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| Deafness , autosomal recessive 86, 614617 (3)
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| * 615403 THO COMPLEX, SUBUNIT 6| THOC6
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| * 191092 TSC2 GENE| TSC2
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| Lymphangioleiomyomatosis, somatic, 606690 (3)
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| Congenital disorder of glycosylation, type Ia, 212065 (3)
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| Xeroderma pigmentosum, group F, 278760 (3)
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| XFE progeroid syndrome, 610965 (3)
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| Fanconi anemia, complementation group Q, 615272 (3)
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| * 133520 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4| ERCC4
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| Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
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| Polycystic kidney disease, adult type I, 173900 (3)
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| Microhydranencephaly (2)
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| Charcot-Marie-Tooth disease, type 1C, 601098 (3)
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| Nephrotic syndrome, type 10, 615861 (3)
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| Aortic aneurysm, familial thoracic 4, 132900 (3)
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| * 145505 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 3| ACSM3
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| * 123740 CRYSTALLIN, MU| CRYM
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| Pseudoxanthoma elasticum, 264800 (3)
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| Pseudoxanthoma elasticum, forme fruste, 177850 (3)
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| Arterial calcification, generalized, of infancy, 2, 614473 (3)
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| Lissencephaly 4 (with microcephaly), 614019 (3)
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| * 609449 NUDE, A. NIDULANS, HOMOLOG OF, 1| NDE1
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| * 608124 XYLOSYLTRANSFERASE 1| XYLT1
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| Desbuquois dysplasia 2, 615777 (3)
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| Combined oxidative phosphorylation deficiency 12, 614924 (3)
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| {Attention deficit-hyperactivity disorder}, 143465 (2)
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| [Body mass index QTL5] (2)
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| Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
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| Osteopetrosis, autosomal recessive 4, 611490 (3)
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| Osteopetrosis, autosomal dominant 2, 166600 (3)
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| [Glyoxalase II deficiency], 614033 (1)
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| Familial Mediterranean fever, AR, 249100 (3)
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| Familial Mediterranean fever, AD, 134610 (3)
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| * 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR| MHC2TA
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