omimdefinitions

| {Stature QTL 4} (2)
| Xeroderma pigmentosum, group G, 278780 (3)
| * 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5| ERCC5
| Bile acid malabsorption, primary, 613291 (3)
| Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 (3)
| Orofacial cleft 9 (2)
| Vesicoureteral reflux 5 (2)
| LIG4 syndrome, 606593 (3)
| * 601837 LIGASE IV, DNA, ATP-DEPENDENT| LIG4
| Porencephaly 1, 175780 (3)
| Brain small vessel disease with hemorrhage, 607595 (3)
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 (3)
| * 120130 COLLAGEN, TYPE IV, ALPHA-1| COL4A1
| {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
| Porencephaly 2, 614483 (3)
| * 120090 COLLAGEN, TYPE IV, ALPHA-2| COL4A2
| * 607408 D-AMINO ACID OXIDASE ACTIVATOR| DAOA
| Deafness, autosomal dominant 33 (2)
| Factor VII deficiency, 227500 (3)
| * 613878 COAGULATION FACTOR VII| F7
| Factor X deficiency, 227600 (3)
| Spinocerebellar ataxia 27, 609307 (3)
| Oguchi disease-2, 613411 (3)
| * 601566 INHIBITOR OF GROWTH 1| ING1
| * 600797 INSULIN RECEPTOR SUBSTRATE 2| IRS2
| {Adiponectin, serum level of, QTL3} (2)
| * 606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5| GOLGA5
| Leber congenital amaurosis 6, 613826 (3)
| Cone-rod dystrophy 13, 608194 (3)
| {Inflammatory bowel disease 4} (2)
| ?Winchester syndrome, 277950 (3)
| Spastic paraplegia 3A, autosomal dominant, 182600 (3)
| Neuropathy, hereditary sensory, type ID, 613708 (3)
| Chromosome 14q11-q22 deletion syndrome (4)
| Retinitis pigmentosa 27, 613750 (3)
| Retinal degeneration, autosomal recessive, clumped pigment type (3)
| Amyotrophic lateral sclerosis 9, 611895 (3)
| Specific granule deficiency, 245480 (3)
| {Autism, susceptibility to, 18}, 615032 (3)
| {Narcolepsy 5} (2)
| Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)
| Lysinuric protein intolerance, 222700 (3)
| Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
| Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
| Deafness, autosomal dominant 53 (2)
| Mental retardation, autosomal recessive, 9/26 (3)
| Preauricular tag, isolated, autosomal dominant, 1 (2)
| PEPCK deficiency, mitochondrial, 261650 (1)
| Hyperhidrosis palmaris et plantaris (2)
| Oculopharyngeal muscular dystrophy, 164300 (3)
| Synpolydactyly 3 (2)
| Spastic paraplegia 52, autosomal recessive, 614067 (3)
| Nemaline myopathy 7, autosomal recessive, 610687 (3)
| Deafness, autosomal recessive 5 (2)
| Cardiomyopathy, familial hypertrophic, 14, 613251 (3)
| Atrial septal defect 3, 614089 (3)
| Cardiomyopathy, dilated, 1EE, 613252 (3)
| {Sick sinus syndrome 3}, 614090 (3)
| * 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA| MYH7
| Cardiomyopathy, dilated, 1S, 613426 (3)
| Myopathy, myosin storage, 608358 (3)
| Laing distal myopathy, 160500 (3)
| Scapuloperoneal syndrome, myopathic type, 181430 (3)
| Left ventricular noncompaction 5, 613426 (3)
| * 613621 NUCLEOTIDE-BINDING PROTEIN-LIKE PROTEIN| NUBPL
| Dyskeratosis congenita, autosomal dominant 3, 613990 (3)
| Revesz syndrome, 268130 (3)
| Deafness, autosomal dominant 9, 601369 (3)
| Tooth agenesis, selective, 3, 604625 (3)
| Spastic paraplegia 32, autosomal recessive (2)
| Arrhythmogenic right ventricular dysplasia 3 (2)
| Rett syndrome, congenital variant, 613454 (3)
| Holoprosencephaly-8 (2)
| Mirror-image polydactyly, 135750 (1)
| Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3)
| * 600635 NK2 HOMEOBOX 1| NKX2-1
| Chorea, hereditary benign, 118700 (3)
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
| * 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6| PSMA6
| ?Tetramelic mirror-image polydactyly (2)
| {Restless legs syndrome 2} (2)
| Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
| Congenital disorder of glycosylation, type IIa, 212066 (3)
| Seckel syndrome 3 (2)
| Craniolenticulosutural dysplasia, 607812 (3)
| {Migraine without aura, susceptibility to, 4} (2)
| Fanconi anemia, complementation group M, 614087 (3)
| Ciliary dyskinesia, primary, 10, 612518 (3)
| {Asthma, aspirin-induced, susceptibility to}, 208550 (3)
| Cataract 32, multiple types (3)
| * 605437 PROTEIN KINASE C, ETA| PRKCH
| Elliptocytosis-3 (3)
| Spherocytosis, type 2 (3)
| Anemia, neonatal hemolytic, fatal and near-fatal (3)
| Spastic paraplegia 28, autosomal recessive, 609340 (3)
| L-2-hydroxyglutaric aciduria, 236792 (3)
| Seckel syndrome 7, 614851 (3)
| {Asthma, susceptibility to, 1}, 607277 (3)
| Glycogen storage disease VI, 232700 (3)
| Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)

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