omimdefinitions

| Polyposis syndrome, mixed hereditary 1 (4)
| {Colorectal cancer, susceptibility to, 4} (4)
| Dyserythropoietic anemia, congenital, type III (2)
| {Dyslexia, susceptibility to, 1}, 127700 (3)
| Ciliary dyskinesia, primary, 25, 615482 (3)
| Cardiofaciocutaneous syndrome 3, 615279 (3)
| Griscelli syndrome, type 1, 214450 (3)
| Griscelli syndrome, type 2, 607624 (3)
| Craniosynostosis 3, 615314 (3)
| {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
| Mast syndrome, 248900 (3)
| Hypoproteinemia, hypercatabolic, 241600 (3)
| Cataract 25 (2)
| * 142704 HISTIDINE DECARBOXYLASE| HDC
| Glomerulosclerosis, focal segmental, 6, 614131 (3)
| Osteogenesis imperfecta, type IX, 259440 (3)
| Aortic valve disease 2, 614823 (3)
| Ceroid lipofuscinosis, neuronal, 6, 601780 (3)
| Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3)
| Microcephaly 9, primary, autosomal recessive, 614852 (3)
| Seckel syndrome 5, 613823 (3)
| Aromatase deficiency, 613546 (3)
| Aromatase excess syndrome, 139300 (3)
| Marfan syndrome, 154700 (3)
| Ectopia lentis, familial, 129600 (3)
| MASS syndrome, 604308 (3)
| Weill-Marchesani syndrome 2, dominant, 608328 (3)
| * 134797 FIBRILLIN 1| FBN1
| Stiff skin syndrome, 184900 (3)
| Acromicric dysplasia, 102370 (3)
| Geleophysic dysplasia 2, 614185 (3)
| [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3)
| * 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER
| Spastic paraplegia 11, autosomal recessive, 604360 (3)
| Spastic paraplegia 51, autosomal recessive, 613744 (3)
| Reticulate acropigmentation of Kitamura, 615537 (3)
| {Alzheimer disease 18, susceptibility to}, 615590 (3)
| [High density lipoprotein cholesterol level QTL 12], 612797 (3)
| * 151670 LIPASE, HEPATIC| LIPC
| Hepatic lipase deficiency, 614025 (3)
| Amelogenesis imperfecta, type IIA3, 613211 (3)
| Hyperchlorhidrosis, isolated, 143860 (3)
| * 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN| CILP
| {Exfoliation syndrome, susceptibility to}, 177650 (3)
| * 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF| PML
| Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
| Usher syndrome, type 1H (2)
| Glaucoma 1, open angle, N (2)
| Congenital disorder of glycosylation, type Ib, 602579 (3)
| Cardiomyopathy, familial hypertrophic, 3, 115196 (3)
| Cardiomyopathy, dilated, 1Y, 611878 (3)
| * 191010 TROPOMYOSIN 1| TPM1
| [Blood group, John-Milton-Hagen system], 614745 (3)
| * 600374 BBS4 GENE| BBS4
| Nemaline myopathy 6, autosomal dominant, 609273 (3)
| Combined oxidative phosphorylation deficiency 15, 614947 (3)
| Loeys-Dietz syndrome, type 3, 613795 (3)
| {Stature QTL 16} (2)
| Keratoderma, palmoplantar, punctate type IA, 148600 (3)
| Enhanced S-cone syndrome, 268100 (3)
| Retinitis pigmentosa 37, 611131 (3)
| Tay-Sachs disease, 272800 (3)
| * 606869 HEXOSAMINIDASE A| HEXA
| [Hex A pseudodeficiency], 272800 (3)
| * 608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE| ETFA
| Tyrosinemia, type I, 276700 (3)
| {Glioma susceptibility 4} (2)
| Weill-Marchesani-like syndrome, 613195 (3)
| Deafness, autosomal recessive 48, 609439 (3)
| Usher syndrome, type IJ, 614869 (3)
| Chromosome 15q24 deletion syndrome (4)
| Epilepsy, nocturnal frontal lobe, type 2 (2)
| * 608366 KIAA1199 GENE| KIAA1199
| Mental retardation, severe, with spasticity and tapetoretinal degeneration (2)
| Ciliary dyskinesia, primary, 8 (2)
| Sick sinus syndrome 2, 163800 (3)
| Brugada syndrome 8, 613123 (3)
| Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)
| Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
| Microphthalmia, syndromic 9, 601186 (3)
| * 610745 STIMULATED BY RETINOIC ACID 6| STRA6
| Chromosome 15q25 deletion syndrome (4)
| Progressive external ophthalmoplegia, autosomal recessive, 258450 (3)
| Progressive external ophthalmoplegia, autosomal dominant, 157640 (3)
| Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
| Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
| Deafness, autosomal dominant 30 (2)
| Fanconi anemia, complementation group I, 609053 (3)
| Insulin-like growth factor I, resistance to, 270450 (3)
| {Lung cancer susceptibility 2}, 612052 (3)
| * 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5| CHRNA5
| {Nicotine dependence, susceptibility to}, 612052 (3)
| EDICT syndrome, 614303 (3)
| Porokeratosis 4, disseminated superficial actinic (2)
| Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
| Spinocerebellar ataxia, autosomal recessive 5, 606937 (3)
| Hypothyroidism, congenital, nongoitrous, 3 (2)
| Major depressive disorder 2, 608516 (2)
| Microphthalmia, isolated 8, 615113 (3)

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