omimdefinitions

| {Cardiac conduction defect, susceptibility to}, 115080 (3)
| {Attention deficit-hyperactivity disorder}, 143465 (2)
| {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
| Combined oxidative phosphorylation deficiency 17, 615440 (3)
| Choroidal dystrophy, central areolar 1 (2)
| ?Diamond-Blackfan anemia 11, 614900 (3)
| * 163730 NITRIC OXIDE SYNTHASE 2A| NOS2A
| {Malaria, resistance to}, 611162 (3)
| {Hypertension, essential, susceptibility to, 1}, 145500 (2)
| {Autism susceptibility 6} (2)
| {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
| Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
| * 147557 INTEGRIN, BETA-4| ITGB4
| Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
| Epidermolysis bullosa of hands and feet, 131800 (3)
| ?Nephronophthisis 9, 613824 (3)
| ?Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
| Folate malabsorption, hereditary, 229050 (3)
| * 601574 TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,
| Cataract 10, multiple types, 600881 (3)
| {Anxiety-related personality traits}, 607834 (3)
| * 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),
| * 602403 BLEOMYCIN HYDROLASE| BLMH
| * 601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1| CCL3L1
| Chromosome 17q11.2 deletion syndrome, 1.4Mb (4)
| [Mean platelet volume QTL3] (2)
| Neurofibromatosis, type 1, 162200 (3)
| * 613113 NEUROFIBROMIN 1| NF1
| Melanoma, desmoplastic neurotrophic (2)
| Neurofibromatosis, familial spinal, 162210 (3)
| Neurofibromatosis-Noonan syndrome, 601321 (3)
| Watson syndrome, 193520 (3)
| * 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B| STAT5B
| Growth hormone insensitivity with immunodeficiency, 245590 (3)
| Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)
| ?Cone-rod dystrophy (3)
| ?Immunodeficiency 13, 615518 (3)
| {HIV-1, resistance to}, 609423 (3)
| {Spina bifida, susceptibility to}, 182940 (3)
| {Coronary artery disease, modifier of} (3)
| {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
| * 187011 CHEMOKINE, CC MOTIF, LIGAND 5| CCL5
| {HIV-1 disease, rapid progression of} (3)
| {Malignant hyperthermia susceptibility 2} (2)
| * 182283 CHEMOKINE, CC MOTIF, LIGAND 3| CCL3
| Chromosome 17q12 deletion syndrome (4)
| Chromosome 17q12 duplication syndrome (4)
| Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
| Renal cysts and diabetes syndrome, 137920 (3)
| * 189907 HNF1 HOMEOBOX B| HNF1B
| {Renal cell carcinoma}, 144700 (3)
| {Prostate cancer, hereditary, 11} (2)
| * 601687 KERATIN 12| KRT12
| Biliary cirrhosis, primary, 5 (2)
| Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
| Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)
| Peroxisome biogenesis disorder 3B, 266510 (3)
| Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
| Cardiomyopathy, dilated, 1N, 607487 (3)
| Neurodegeneration with brain iron accumulation 6, 615643 (3)
| * 607606 KERATIN 9| KRT9
| * 148066 KERATIN 14| KRT14
| Epidermolysis bullosa simplex, Koebner type, 131900 (3)
| Epidermolysis bullosa simplex, recessive 1, 601001 (3)
| Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
| Dermatopathia pigmentosa reticularis, 125595 (3)
| Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
| Pachyonychia congenita 1, 167200 (3)
| Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
| Pachyonychia congenita 2, 167210 (3)
| Steatocystoma multiplex, 184500 (3)
| Sclerosteosis 1, 269500 (3)
| Van Buchem disease, 239100 (3)
| Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)
| Wilms tumor, type 4 (2)
| Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
| Acetyl-CoA carboxylase deficiency, 613933 (1)
| {Asthma-related traits, susceptibility to, 6} (2)
| {Autism susceptibility 7} (2)
| {Breast-ovarian cancer, familial, 1}, 604370 (3)
| {Pancreatic cancer, susceptibility to, 4}, 614320 (3)
| Glycogen storage disease Ia, 232200 (3)
| Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)
| * 611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3| G6PC3
| Alexander disease, 203450 (3)
| Epilepsy, progressive myoclonic 6, 614018 (3)
| Narcolepsy 1, 161400 (3)
| Naxos disease, 601214 (3)
| Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
| * 600147 MESENCHYME HOMEOBOX 1| MEOX1
| Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
| * 176705 PROHIBITIN| PHB
| Lipodystrophy, congenital generalized, type 4, 613327 (3)
| {Obesity}, 601665 (3)
| Hyper-IgE recurrent infection syndrome, 147060 (3)
| Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
| Tetra-amelia, autosomal recessive, 273395 (3)
| Facial paresis, hereditary congenital, 3, 614744 (3)
| {Prostate cancer, hereditary, 9} (2)

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