omimdefinitions

| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
| Amyloidosis, primary localized cutaneous, 1, 105250 (3)
| Cornelia de Lange syndrome 1, 122470 (3)
| * 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR| GDNF
| {Pheochromocytoma, modifier of}, 171300 (3)
| {Hirschsprung disease, susceptibility to, 3}, 613711 (3)
| Glucocorticoid deficiency 4, 614736 (3)
| {Attention deficit-hyperactivity disorder}, 143465 (2)
| C6 deficiency, 612446 (3)
| * 217050 COMPLEMENT COMPONENT 6| C6
| C7 deficiency, 610102 (3)
| C9 deficiency, 613825 (3)
| Macular degeneration, age-related, 15, suscepbitility to, 615591 (3)
| Chromosome 5p13 duplication syndrome (4)
| * 146661 INTERLEUKIN 7 RECEPTOR| IL7R
| Kyphoscoliosis 1 (2)
| ?Atrial fibrillation 15, 615770 (3)
| Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
| Episodic ataxia, type 6, 612656 (3)
| Aplasia of lacrimal and salivary glands, 180920 (3)
| * 602115 FIBROBLAST GROWTH FACTOR 10| FGF10
| Laron dwarfism, 262500 (3)
| * 600946 GROWTH HORMONE RECEPTOR| GHR
| {Hypercholesterolemia, familial, modifier of}, 143890 (3)
| Increased responsiveness to growth hormone (3)
| {Hypertension, essential, susceptibility to, 6}, 145500 (2)
| Epileptic encephalopathy, early infantile, 24, 615871 (3)
| Atrial septal defect 1 (2)
| {Malignant hyperthermia susceptibility 6} (2)
| {Bone size QTL} (2)
| Pituitary hormone deficiency, combined, 2, 262600 (3)
| Molybdenum cofactor deficiency B, 252160 (3)
| * 600887 MutS, E. COLI, HOMOLOG OF, 3| MSH3
| Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
| * 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4| NDUFS4
| Mitochondrial complex I deficiency, 252010 (3)
| Ciliary diskinesia, primary, 29, 615872 (3)
| Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
| Amyloidosis, primary localized cutaneous, 2, 613955 (3)
| ?Klippel-Feil syndrome 2, autosomal recessive (2)
| 46XY sex reversal 6, 613762 (3)
| Periodic fever, menstrual cycle dependent, 614674 (3)
| Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)
| Chromosome 5q12 deletion sydrome (4)
| Cockayne syndrome, type A, 216400 (3)
| UV-sensitive syndrome 2, 614621 (3)
| {Stroke, susceptibility to, 1}, 606799 (3)
| Acrodysostosis 2, with or without hormone resistance, 614613 (3)
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
| Myoclonic epilepsy, juvenile, 4 (2)
| Wagner syndrome 1, 143200 (3)
| Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)
| * 609653 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2| NDUFAF2
| Leigh syndrome, 256000 (3)
| Dimethylglycine dehydrogenase deficiency, 605850 (3)
| Spinal muscular atrophy-1, 253300 (3)
| Spinal muscular atrophy-2, 253550 (3)
| Spinal muscular atrophy-3, 253400 (3)
| Spinal muscular atrophy-4, 271150 (3)
| * 601627 SURVIVAL OF MOTOR NEURON 2| SMN2
| Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
| Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
| Striatal degeneration, autosomal dominant, 609161 (3)
| Agammaglobulinemia 7, autosomal recessive, 615214 (3)
| SHORT syndrome, 269880 (3)
| [Thyroid-stimulating hormone level QTL 1] (2)
| Aortic aneurysm, familial thoracic 2 (2)
| Capillary malformations, hereditary (2)
| Fibromatosis, gingival, 2 (2)
| Deafness, autosomal recessive 49, 610153 (3)
| Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
| * 602606 COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT
| Parkes Weber syndrome, 608355 (3)
| Capillary malformation-arteriovenous malformation, 608354 (3)
| * 139150 RAS p21 PROTEIN ACTIVATOR 1| RASA1
| [Statins, attenuated cholesterol lowering by] (3)
| [Low density lipoprotein cholesterol level QTL 3] (3)
| Telangiectasia, hereditary benign (2)
| Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3)
| * 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C| MEF2C
| Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3)
| Hermansky-Pudlak syndrome 2, 608233 (3)
| Keratoconus 5 (2)
| Vesicoureteral reflux 4 (2)
| Febrile seizures, familial, 4, 604352 (3)
| Usher syndrome, type 2C, 605472 (3)
| * 602851 G PROTEIN-COUPLED RECEPTOR 98| GPR98
| Periventricular nodular heterotopia 5 (4)
| Trichohepatoenteric syndrome 1, 222470 (3)
| Obesity with impaired prohormone processing, 600955 (3)
| {Obesity, susceptibility to, BMIQ12}, 612362 (3)
| * 159350 MUTATED IN COLORECTAL CANCERS| MCC
| {Migraine, susceptibility to, 8} (2)
| Adenomatous polyposis coli, 175100 (3)
| * 611731 APC GENE| APC
| Adenoma, periampullary, somatic (3)
| Hepatoblastoma, somatic, 114550 (3)
| Desmoid disease, hereditary, 135290 (3)
| Colorectal cancer, somatic, 114500 (3)
| Brain tumor-polyposis syndrome 2, 175100 (3)

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