omimdefinitions

| Gardner syndrome, 175100 (3)
| Glaucoma 1, open angle, G, 609887 (3)
| {Esophagitis, eosinophilic, 2} (2)
| Glaucoma 1, open angle, M (2)
| Ehlers-Danlos syndrome, type VIIC, 225410 (3)
| * 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR| HBEGF
| Contractural arachnodactyly, congenital, 121050 (3)
| ?Glycoprotein Ia deficiency, 614200 (1)
| * 179095 UBIQUITIN-CONJUGATING ENZYME E2B| UBE2B
| {Schizophrenia}, 181500 (2)
| D-bifunctional protein deficiency, 261515 (3)
| Perrault syndrome 1, 233400 (3)
| Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
| Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
| * 612453 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10| MEGF10
| ?Mitochondrial complex III deficiency, nuclear type 8, 615838 (3)
| * 604443 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 6| ACSL6
| Myelogenous leukemia, acute (3)
| Epilepsy, pyridoxine-dependent, 266100 (3)
| Leukemia, juvenile myelomonocytic, 607785 (3)
| Deafness, autosomal dominant 1, 124900 (3)
| Deafness, autosomal dominant 54 (2)
| {Inflammatory bowel disease 5} (2)
| * 147683 INTERLEUKIN 13| IL13
| {Allergic rhinitis, susceptibility to}, 607154 (3)
| Pseudohypoaldosteronism, type IID, 614495 (3)
| Cortisol resistance (3)
| Paget disease of bone, 602080 (2)
| Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
| Liebenberg syndrome, 186550 (4)
| Deafness, autosomal dominant 15, 602459 (3)
| Nijmegen breakage syndrome-like disorder, 613078 (3)
| ?Spastic paraplegia 72, autosomal recessive, 615625 (3)
| * 609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2| REEP2
| Restless legs syndrome, susceptibility to, 8 (2)
| Marinesco-Sjogren syndrome, 248800 (3)
| * 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4| SLC22A4
| Corneal dystrophy, Groenouw type I, 121900 (3)
| Corneal dystrophy, lattice type I, 122200 (3)
| Corneal dystrophy, Reis-Bucklers type, 608470 (3)
| Corneal dystrophy, Avellino type, 607541 (3)
| Corneal dystrophy, lattice type IIIA, 608471 (3)
| Corneal dystrophy, Thiel-Behnke type, 602082 (3)
| Corneal dystrophy, epithelial basement membrane, 121820 (3)
| Muscular dystrophy, limb-girdle, type 1A, 159000 (3)
| Myopathy, myofibrillar, 3, 609200 (3)
| Myopathy, spheroid body, 182920 (3)
| {Autoimmune thyroid disease, susceptibility to, 2} (2)
| {Dermatitis, atopic, susceptibility to, 6} (2)
| {Celiac disease, susceptibility to, 2} (2)
| Eosinophilia, familial (2)
| {Malaria, intensity of infection} (2)
| Spinocerebellar ataxia 12, 604326 (3)
| {Schistosoma mansoni infection, susceptibility/resistance to} (2)
| * 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2| SCGB3A2
| {?Allergy and asthma susceptibility} (2)
| * 147575 INTERFERON REGULATORY FACTOR 1| IRF1
| Myelogenous leukemia, acute (3)
| Gastric cancer, somatic, 613659 (3)
| Nonsmall cell lung cancer, somatic, 211980 (3)
| {Osteoporosis, susceptibility to}, 166710 (3)
| Chylomicron retention disease, 246700 (3)
| Carnitine deficiency, systemic primary, 212140 (3)
| Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
| Deafness, autosomal dominant 52 (2)
| Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)
| {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
| * 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2| GABRG2
| {Diabetes mellitus, insulin-dependent, 18} (2)
| * 161561 INTERLEUKIN 12B| IL12B
| {Asthma, susceptibility to}, 600807 (3)
| {Psoriasis susceptibility 11} (2)
| Amyotrophic lateral sclerosis 21, 606070 (3)
| * 602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2| NDUFA2
| Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
| Retinitis pigmentosa 43, 613810 (3)
| Usher syndrome type 3B, 614504 (3)
| Perrault syndrome 2, 614926 (3)
| Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
| Telangiectasia, hereditary hemorrhagic, type 3 (2)
| GM2-gangliosidosis, AB variant, 272750 (3)
| Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
| Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3)
| ?Deafness, autosomal recessive 101, 615837 (3)
| Lymphoproliferative syndrome 1, 613011 (3)
| ?Liver failure, infantile, syndromic, 615438 (3)
| Myeloproliferative disorder with eosinophilia, 131440 (4)
| Basal ganglia calcification, idiopathic, 4, 615007 (3)
| Myofibromatosis, infantile, 1, 228550 (3)
| Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
| Charcot-Marie-Tooth disease, type 4C, 601596 (3)
| Mononeuropathy of the median nerve, mild, 613353 (3)
| * 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1| SPINK1
| {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3)
| Tropical calcific pancreatitis, 608189 (3)
| Netherton syndrome, 256500 (3)
| * 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5| SPINK5
| Diastrophic dysplasia, 222600 (3)
| Atelosteogenesis II, 256050 (3)
| Achondrogenesis Ib, 600972 (3)

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