omimdefinitions

| Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)
| Frias syndrome (4)
| Myopia 18 (2)
| Microphthalmia, syndromic 6, 607932 (3)
| Orofacial cleft 11, 600625 (3)
| {Colorectal cancer, susceptibility to, 8} (2)
| Microphthalmia, syndromic 5, 610125 (3)
| Pituitary hormone deficiency, combined, 6, 613986 (3)
| * 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2| OTX2
| Aneurysm, intracranial berry, 8 (2)
| {Epilepsy, idiopathic generalized, susceptibility to, 2} (2)
| * 154950 MAX PROTEIN| MAX
| Brachiootic syndrome 3, 608389 (3)
| Deafness, autosomal dominant 23, 605192 (3)
| Microphthalmia with cataract 2, 212550 (3)
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
| [Telomere length, mean leukocyte] (2)
| Leber congenital amaurosis 13, 612712 (3)
| * 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2| EIF2B2
| Ovarioleukodystrophy, 603896 (3)
| Molybdenum cofactor deficiency C, 615501 (3)
| Glaucoma 3, primary congenital, D, 613086 (3)
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
| Weill-Marchesani syndrome 3, recessive, 614819 (3)
| * 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1| MTHFD1
| {Abruptio placentae, susceptibility to} (3)
| Arrhythmogenic right ventricular dysplasia 1, 107970 (3)
| ?Rienhoff syndrome, 615582 (3)
| Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
| Bleeding disorder, platelet-type, 15, 615193 (3)
| Spastic paraplegia 15, autosomal recessive, 270700 (3)
| Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
| Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)
| Microphthalmia with coloboma 3, 610092 (3)
| Microphthalmia, isolated 2, 610093 (3)
| Coenzyme Q10 deficiency, primary, 6, 614650 (3)
| Ciliary dyskinesia, primary, 16, 614017 (3)
| Deafness, autosomal recessive 35, 608565 (3)
| Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
| Glaucoma 3, primary congenital, C (2)
| * 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1| GSTZ1
| Cranioectodermal dysplasia 3, 614099 (3)
| Keratoconus 8 (2)
| Muscle strength quantitative trait locus 1 (2)
| Niemann-pick disease, type C2, 607625 (3)
| * 604395 MutL, E. COLI, HOMOLOG OF, 3| MLH3
| Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
| {Endometrial cancer, susceptibility to}, 608089 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
| Alzheimer disease, type 3, 607822 (3)
| * 104311 PRESENILIN 1| PSEN1
| Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
| Dementia, frontotemporal, 600274 (3)
| Pick disease, 172700 (3)
| Cardiomyopathy, dilated, 1U, 613694 (3)
| Acne inversa, familial, 3, 613737 (3)
| Cone-rod dystrophy 19, 615860 (3)
| Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
| {Diabetes mellitus, insulin-dependent, 11} (2)
| Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
| Pleuropulmonary blastoma, 601200 (3)
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)
| Rhabdomyosarcoma, embryonal, 2, 180295 (3)
| Krabbe disease, 245200 (3)
| {Graves disease, susceptibility to, 1} (2)
| Hypertelorism, preauricular sinus, punctal pits, and deafness (2)
| Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
| Thyroid adenoma, hyperfunctioning, somatic (3)
| Hyperthyroidism, nonautoimmune, 609152 (3)
| Thyroid carcinoma with thyrotoxicosis (3)
| Hyperthyroidism, familial gestational, 603373 (3)
| Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
| Achondrogenesis, type IA, 200600 (3)
| Leber congenital amaurosis 3, 604232 (3)
| * 609868 SPERMATOGENESIS-ASSOCIATED PROTEIN 7| SPATA7
| * 605799 AMNIONLESS, MOUSE, HOMOLOG OF| AMN
| {Coronary heart disease, susceptibility to, 4} (2)
| [Creatine kinase, brain type, ectopic expression of] (2)
| Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
| Mental retardation, autosomal dominant 13, 614563 (3)
| Spinal muscular atrophy, lower extremity-predominant, AD, 158600 (3)
| {Gene expression, variation in, QTL} (2)
| * 609588 GLUTAREDOXIN 5| GLRX5
| Hemifacial microsomia (2)
| Microphthalmia, isolated 1 (2)
| [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
| * 609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER
| Amelogenesis imperfecta, type IA5, 615887 (3)
| Pontocerebellar hypoplasia type 1A, 607596 (3)
| Corticosteroid-binding globulin deficiency, 611489 (3)
| Cutis laxa, autosomal recessive, type IA, 219100 (3)
| Cutis laxa, autosomal dominant 2, 614434 (3)
| Macular degeneration, age-related, 3, 608895 (3)
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3)
| Emphysema due to AAT deficiency, 613490 (3)
| * 107400 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1| SERPINA1
| Hemorrhagic diathesis due to 'antithrombin' Pittsburgh, 613490 (3)
| {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)

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