omimdefinitions

| Epiphyseal dysplasia, multiple, 4, 226900 (3)
| * 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2| SLC26A2
| De la Chapelle dysplasia, 256050 (3)
| Treacher Collins syndrome 1, 154500 (3)
| {Asthma, nocturnal, susceptibility to}, 600807 (3)
| {Obesity, susceptibility to}, 601665 (3)
| Beta-2-adrenoreceptor agonist, reduced response to (3)
| Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
| * 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA|
| Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
| Cardiomyopathy, dilated, 1L, 606685 (3)
| Factor XII deficiency, 234000 (3)
| Angioedema, hereditary, type III, 610618 (3)
| Neuronopathy, distal hereditary motor, type IID, 615575 (3)
| * 608212 IMMUNITY-RELATED GTPase FAMILY, M| IRGM
| Inflammatory bowel disease 19, 612278 (3)
| * 608331 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2|
| Hyperglycinuria, 138500 (3)
| Corneal dystrophy, Fuchs endothelial, 5 (2)
| * 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1| HAVCR1
| * 600936 HYALURONAN-MEDIATED MOTILITY RECEPTOR| HMMR
| * 601093 FORKHEAD BOX I1| FOXI1
| {Hypertension, diastolic, resistance to}, 608622 (3)
| Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
| Tetrology of Fallot, 187500 (3)
| Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
| Ventricular septal defect 3, 614432 (3)
| Hypoplastic left heart syndrome 2, 614435 (3)
| * 600584 NK2 HOMEOBOX 5| NKX2-5
| {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
| * 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1| GABRA1
| Epileptic encephalopathy, early infantile, 19, 615744 (3)
| Craniosynostosis, type 2, 604757 (3)
| Parietal foramina 1, 168500 (3)
| Parietal foramina with cleidocranial dysplasia, 168550 (3)
| {Diabetes mellitus, noninsulin-dependent}, 125853 (2)
| [Memory, enhanced, QTL], 615602 (3)
| Arthrogryposis multiplex congenita, neurogenic (2)
| Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
| Leukotriene C4 synthase deficiency, 614037 (1)
| Sotos syndrome 1, 117550 (3)
| * 606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX
| Beckwith-Wiedemann syndrome, 130650 (3)
| * 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1| NPM1
| Leukemia, acute myeloid, 601626 (3)
| Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
| Fanconi renotubular syndrome 2, 613388 (3)
| * 602569 SYNUCLEIN, BETA| SNCB
| * 601530 SEQUESTOSOME 1| SQSTM1
| Frank-ter Haar syndrome, 249420 (3)
| * 134935 FIBROBLAST GROWTH FACTOR RECEPTOR 4| FGFR4
| {Menopause, natural, age at, QTL4} (2)
| Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
| [Phosphohydroxylysinuria], 615011 (3)
| Lymphedema, hereditary I, 153100 (3)
| * 136352 FMS-LIKE TYROSINE KINASE 4| FLT4
| Dyskeratosis congenita, autosomal recessive 2, 613987 (3)
| Chromosome 6pter-p24 deletion syndrome (4)
| * 147267 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 3| ITPR3
| [Skin/hair/eye pigmentation 8, freckling] (2)
| {Intelligence QTL3} (2)
| Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
| Polymicrogyria, symmetric or asymmetric, 610031 (3)
| Combined oxidative phosphorylation deficiency 14, 614946 (3)
| ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
| {Leukemia, chronic lymphocytic susceptibility to, 4} (2)
| Iridogoniodysgenesis, type 1, 601631 (3)
| Rieger or Axenfeld anomalies, 602482 (3)
| * 601090 FORKHEAD BOX C1| FOXC1
| Iris hypoplasia and glaucoma, 601631 (3)
| Larsen-like syndrome (2)
| * 160998 NAD(P)H DEHYDROGENASE, QUINONE 2| NQO2
| Deafness, autosomal recessive 91, 613453 (3)
| Factor XIIIA deficiency, 613225 (3)
| * 134570 FACTOR XIII, A1 SUBUNIT| F13A1
| {Venous thrombosis, protection against}, 188050 (3)
| Multiple myeloma, 254500 (3)
| Orofacial cleft-1 (2)
| Hypoparathyroidism, familial isolated, 146200 (3)
| REtinitis pigmentosa 62, 614181 (3)
| ?Megalencephaly, autosomal recessive, 248000 (3)
| Deafness, autosomal dominant 21 (2)
| Keratosis palmoplantaris striata II, 612908 (3)
| Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3)
| Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
| Skin fragility-woolly hair syndrome, 607655 (3)
| Epidermolysis bullosa, lethal acantholytic, 609638 (3)
| Branchiooculofacial syndrome, 113620 (3)
| Auriculocondylar syndrome 3, 615706 (3)
| Question mark ears, isolated, 612798 (3)
| {High density lipoprotein cholesterol level QTL 7} (3)
| [Blood group, Ii], 110800 (3)
| * 600429 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME| GCNT2
| Adult i phenotype without cataract, 110800 (3)
| Spinocerebellar ataxia 1, 164400 (3)
| * 125264 DEK ONCOGENE| DEK
| Tremor, hereditary essential, 3 (2)
| {Schizophrenia}, 181500 (2)
| Spinocerebellar ataxia, autosomal recessive 3 (2)
| [Birth weight QTL4] (2)

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