omimdefinitions

| Chromosome 3q13.31 deletion syndrome (4)
| Alkaptonuria, 203500 (3)
| Dowling-Degos disease 4, 615696 (3)
| {Dermatitis, atopic, susceptibility to, 1} (2)
| Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, 607936 (3)
| * 602773 DISRUPTED IN RENAL CARCINOMA 2| DIRC2
| [Fasting plasma glucose level QTL 6] (2)
| [Birth weight QTL 3] (2)
| [Plasma glucose, 2-hour, QTL 1] (2)
| Bernard-Soulier syndrome, type C, 231200 (3)
| Immunodeficiency 21, 614172 (3)
| Emberger syndrome, 614038 (3)
| * 137295 GATA-BINDING PROTEIN 2| GATA2
| {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
| Cranioectodermal dysplasia 1, 218330 (3)
| Aortic aneurysm, familial thoracic 7, 613780 (3)
| {Psoriasis susceptibility 5} (2)
| Charcot-Marie-Tooth disease, type 2B, 600882 (3)
| Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
| Atransferrinemia, 209300 (3)
| Facial paresis, hereditary congenital, 1 (2)
| Propionicacidemia, 606054 (3)
| Hailey-Hailey disease, 169600 (3)
| Glaucoma 1C, primary open angle (2)
| Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)
| Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)
| Retinitis punctata albescens, 136880 (3)
| * 106165 ANGIOTENSIN RECEPTOR 1| AGTR1
| Renal tubular dysgenesis, 267430 (3)
| Cataract 12, multiple types, 611597 (3)
| Usher syndrome, type 3A, 276902 (3)
| Retinitis pigmentosa 61, 614180 (3)
| * 120520 MEMBRANE METALLOENDOPEPTIDASE| MME
| Membranous glomerulonephritis, antenatal (1)
| Dyskeratosis congenita, autosomal dominant 1, 127550 (3)
| {Aplastic anemia}, 614743 (3)
| * 602322 TELOMERASE RNA COMPONENT| TERC
| Hypocalciuric hypercalcemia, type I, 145980 (3)
| Hyperparathyroidism, neonatal, 239200 (3)
| Hypocalcemia, autosomal dominant, 601198 (3)
| Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
| {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
| Hypercalciuric hypercalcemia (3)
| {Calcium, serum level of} (3)
| Deafness, autosomal recessive 42, 609646 (3)
| Senior-Loken syndrome 5, 609254 (3)
| Urocanase deficiency, 276880 (3)
| Deafness, autosomal dominant 18 (2)
| Nephronophthisis 3, 604387 (3)
| Renal-hepatic-pancreatic dysplasia 1, 208540 (3)
| Meckel syndrome 7, 267010 (3)
| Senior-Loken syndrome 3 (2)
| {Alzheimer disease-15} (2)
| Seckel syndrome 1, 210600 (3)
| Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
| Dandy-Walker syndrome (4)
| Otosclerosis 5 (2)
| Combined oxidative phosphorylation deficiency 9, 614582 (3)
| ?Seckel syndrome 6, 614728 (3)
| Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)
| * 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2| FOXL2
| Premature ovarian failure 3, 608996 (3)
| Combined oxidative phosphorylation deficiency 5, 611719 (3)
| {Stature QTL 10} (2)
| [Hypoceruloplasminemia, hereditary], 604290 (3)
| * 117700 CERULOPLASMIN| CP
| Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
| Bruck syndrome 2, 609220 (3)
| * 600358 GUANINE MONOPHOSPHATE SYNTHETASE| GMPS
| Hermansky-Pudlak syndrome 3, 614072 (3)
| ?{Autism susceptibility 16}, 613410 (3)
| Bleeding disorder, platelet-type, 8, 609821 (3)
| Glycogen storage disease XV, 613507 (3)
| [High density lipoprotein cholesterol level QTL 5] (2)
| Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
| {Melanoma, uveal, susceptibility to, 1} (2)
| [Blood group, globoside system], 615021 (3)
| [Blood group, P1PK system, P(k) phenotype], 111400 (3)
| {Celiac disease, susceptibility to, 10} (2)
| Epilepsy, familial temporal lobe, 6 (2)
| Sucrase-isomaltase deficiency, congenital, 222900 (3)
| {Asperger syndrome susceptibility 1} (2)
| {Autism susceptibility 8} (2)
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
| * 601402 MYELOID LEUKEMIA FACTOR 1| MLF1
| [Birth weight QTL 2] (2)
| Spastic paraplegia 42, autosomal dominant, 612539 (3)
| Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
| Combined oxidative phosphorylation deficiency 1, 609060 (3)
| ACAD9 deficiency, 611126 (3)
| Alopecia, androgenetic, 1 (2)
| {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
| * 600570 CHLORIDE CHANNEL 2| CLCN2
| {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
| Leukoencephalopathy with ataxia, 615651 (3)
| * 600049 MDS1 GENE| MDS1
| * 165215 ECOTROPIC VIRAL INTEGRATION SITE 1| EVI1
| Myopia 8 (2)
| Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
| Cerebral cavernous malformations 3, 603285 (3)

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