omimdefinitions

| {Microvascular complications of diabetes 4}, 612628 (3)
| Interleukin 1 receptor antagonist deficiency, 612852 (3)
| Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
| ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)
| Dystonia 21 (2)
| WHIM syndrome, 193670 (3)
| * 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4| CXCR4
| Xeroderma pigmentosum, group B, 610651 (3)
| Trichothiodystrophy, 601675 (3)
| {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
| Lactase deficiency, congenital, 223000 (3)
| Lactase persistance/nonpersistance, 223100 (3)
| Thyroid carcinoma, nonmedullary, 1 (2)
| {Attention deficit-hyperactivity disorder, susceptibility to, 5} (2)
| Heterotaxy, visceral, 2, autosomal, 605376 (3)
| Double-outlet right ventricle, 217095 (3)
| Transposition of the great arteries, dextro-looped 2, 613853 (3)
| {Coronary heart disease, susceptibility to, 2} (2)
| Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
| Warburg micro syndrome 1, 600118 (3)
| {Asthma, susceptibility to}, 600807 (3)
| Nemaline myopathy 2, autosomal recessive, 256030 (3)
| Mowat-Wilson syndrome, 235730 (3)
| {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3)
| * 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT| CACNB4
| Episodic ataxia, type 5, 613855 (3)
| Meier-Gorlin syndrome 2, 613800 (3)
| {Major affective disorder 5} (2)
| Woodhouse-Sakati syndrome, 241080 (3)
| Fibrodysplasia ossificans progressiva, 135100 (3)
| Seizures, benign familial infantile, 3, 607745 (3)
| Epileptic encephalopathy, early infantile, 11, 613721 (3)
| Deafness, autosomal dominant 16 (2)
| Deafness, autosomal recessive 27 (2)
| ?Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)
| Mental retardation, autosomal dominant 1, 156200 (3)
| Homocystinuria, cblD type, variant 1, 277410 (3)
| * 611935 MMADHC GENE| MMADHC
| Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
| Cholestasis, progressive familial intrahepatic 2, 601847 (3)
| Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
| Aicardi-Goutieres syndrome 7, 615846 (3)
| Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
| Dravet syndrome, 607208 (3)
| Migraine, familial hemiplegic, 3, 609634 (3)
| * 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT| SCN1A
| Erythermalgia, primary, 133020 (3)
| Insensitivity to pain, channelopathy-associated, 243000 (3)
| Paroxysmal extreme pain disorder, 167400 (3)
| Febrile seizures, familial, 3B, 613863 (3)
| * 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT| SCN9A
| Small fiber neuropathy, 133020 (3)
| {Dravet syndrome, modifier of}, 607208 (3)
| Hypomyelination, global cerebral, 612949 (3)
| Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
| Donnai-Barrow syndrome, 222448 (3)
| Myasthenic syndrome, slow-channel congenital, 601462 (3)
| Myasthenic syndrome, fast-channel congenital, 608930 (3)
| Multiple pterygium syndrome, lethal type, 253290 (3)
| [Fasting plasma glucose level QTL 1] (2)
| Mesomelic dysplasia, Kantaputra type (2)
| {Diabetes, type 2, susceptibility to}, 125853 (3)
| Synesthesia (2)
| {Intelligence QTL3} (2)
| {Diabetes mellitus, insulin-dependent, 19} (2)
| Nephronophthisis 12, 613820 (3)
| Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
| Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
| * 603650 BBS5 GENE| BBS5
| Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
| {Diabetes mellitus, insulin-dependent, 7} (2)
| Paroxysmal nonkinesigenic dyskinesia 2 (2)
| Split-hand/foot malformation 5 (2)
| Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
| Cardiomyopathy, dilated, 1G, 604145 (3)
| Tibial muscular dystrophy, tardive, 600334 (3)
| Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
| Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
| Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
| Vertical talus, congenital, 192950 (3)
| * 142984 HOMEOBOX D10| HOXD10
| Synpolydactyly, type II, 186000 (3)
| Brachydactyly, type E, 113300 (3)
| Brachydactyly, type D, 113200 (3)
| * 142989 HOMEOBOX D13| HOXD13
| Syndactyly, type V, 186300 (3)
| Brachydactyly-syndactyly syndrome, 610713 (3)
| ?VACTERL association, 192350 (3)
| Duane retraction syndrome 2, 604356 (3)
| {Osteoarthritis susceptibility 1}, 165720 (3)
| Chromosome 2q31.1 duplication syndrome (4)
| Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
| Nemaline myopathy 9, 615731 (3)
| Wiskott-Aldrich syndrome 2, 614493 (3)
| Deafness, autosomal recessive 59, 610220 (3)
| Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
| Chromosome 2q31.2 deletion syndrome (4)
| Retinitis pigmentosa 26, 608380 (3)
| * 603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3| NDUFB3
| Dystonia 16, 612067 (3)

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