omimdefinitions

| {Malignant hyperthermia susceptibility 5}, 601887 (3)
| {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
| [Blood group Cromer], 613793 (3)
| Nephropathy due to CFHR5 deficiency, 614809 (3)
| * 120620 COMPLEMENT COMPONENT RECEPTOR 1| CR1
| {?SLE susceptibility} (1)
| [Blood group, Knops system], 607486 (3)
| {Malaria, severe, resistance to}, 611162 (3)
| {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
| Immunodeficiency, common variable, 7, 614699 (3)
| Glomerulopathy with fibronectin deposits 1 (2)
| * 134370 COMPLEMENT FACTOR H| CFH
| Complement factor H deficiency, 609814 (3)
| {Macular degeneration, age-related, 4}, 610698 (3)
| Basal laminar drusen, 126700 (3)
| Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
| * 150310 LAMININ, BETA-3| LAMB3
| Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
| {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3)
| {Parkinson disease 16} (2)
| Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
| Choanal atresia and lymphedema, 613611 (3)
| * 179820 RENIN| REN
| Renal tubular dysgenesis, 267430 (3)
| Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)
| Hypotrichosis 11, 615059 (3)
| Cardiomyopathy, familial hypertrophic, 2, 115195 (3)
| Cardiomyopathy, dilated, 1D, 601494 (3)
| Cardiomyopathy, familial restrictive, 3, 612422 (3)
| * 191045 TROPONIN T2, CARDIAC| TNNT2
| Cortisone reductase deficiency 2, 614662 (3)
| van der Woude syndrome, 119300 (3)
| Popliteal pterygium syndrome 1, 119500 (3)
| Orofacial cleft 6, 608864 (3)
| * 601525 CHITINASE 3-LIKE 1| CHI3L1
| {Asthma-related traits, susceptibility to, 7}, 611960 (3)
| ?Epilepsy, familial adult myoclonic, 5, 615400 (3)
| Orofaciodigital syndrome V, 174300 (3)
| * 612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE| DSTYK
| {Inflammatory bowel disease 23} (2)
| Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
| ?Retinitis pigmentosa 67, 615565 (3)
| Leber congenital amaurosis 12, 610612 (3)
| Martsolf syndrome, 212720 (3)
| Warburg micro syndrome 2, 614225 (3)
| Rippling muscle disease-1 (2)
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
| Loeys-Dietz syndrome, type 4, 614816 (3)
| {Legionaire disease, susceptibility to}, 608556 (3)
| {Systemic lupus erythematosus, resistance to}, 601744 (3)
| * 603031 TOLL-LIKE RECEPTOR 5| TLR5
| {Melioidosis, susceptibilty to}, 615557 (3)
| Usher syndrome, type 2A, 276901 (3)
| Retinitis pigmentosa 39, 613809 (3)
| {Autism susceptibility 11} (2)
| Chromosome 1q41-q42 deletion syndrome (4)
| ?Eagle-Barrett syndrome, 100100 (3)
| Otosclerosis 10 (2)
| {Basal cell carcinoma, susceptibility to, 2} (2)
| Episodic ataxia, type 3 (2)
| Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
| Muscular dystrophy, congenital, 1B (2)
| ?Cardiomyopathy, dilated, 1AA, 612158 (3)
| {Hypertension, essential, susceptibility to}, 145500 (3)
| {Preeclampsia, susceptibility to} (3)
| Renal tubular dysgenesis, 267430 (3)
| Erythrocytosis, familial, 3, 609820 (3)
| Kenny-Caffey syndrome-1, 244460 (3)
| Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)
| Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3)
| * 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1| ACTA1
| Myopathy, actin, congenital, with cores, 161800 (3)
| Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
| {Schizophrenia, susceptibility to}, 604906 (3)
| * 605210 DISRUPTED IN SCHIZOPHRENIA 1| DISC1
| * 606271 DISRUPTED IN SCHIZOPHRENIA 2| DISC2
| Left-right axis malformations (3)
| ?Fetal hydantoin syndrome (1)
| Diphenylhydantoin toxicity (1)
| Hypercholanemia, familial, 607748 (3)
| {Preeclampsia, susceptibility to}, 189800 (3)
| Fumarase deficiency, 606812 (3)
| Leiomyomatosis and renal cell cancer, 150800 (3)
| Pelger-Huet anomaly, 169400 (3)
| Greenberg skeletal dysplasia, 215140 (3)
| ?Reynolds syndrome, 613471 (3)
| Chediak-Higashi syndrome, 214500 (3)
| Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
| Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
| Leukodystrophy, hypomyelinating, 2, 608804 (3)
| Spastic paraplegia 44, autosomal recessive, 613206 (3)
| Lymphedema, hereditary, IC, 613480 (3)
| ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
| Coenzyme Q10 deficiency, primary, 4, 612016 (3)
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940 (3)
| {Prostate cancer, susceptibility to}, 176807 (2)
| Split-hand/foot malformation with long bone deficiency 1 (2)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
| Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)

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