Specific

MM: 3-M syndrome 2 MM: 46XY sex reversal 1 MM: Alpha-2-plasmin inhibitor deficiency MM: Exudative vitreoretinopathy 4 MM: Exudative vitreoretinopathy MM: Exudative vitreoretinopathy, X-linked MM: FG syndrome 2 MM: Fabry disease MM: Fabry disease, cardiac variant MM: Factor V and factor VIII, combined deficiency of MM: Factor V deficiency MM: Factor X deficiency MM: Factor XI deficiency, autosomal dominant MM: Factor XI deficiency, autosomal recessive MM: Factor XIIIA deficiency MM: Factor XIIIB deficiency MM: Failure of tooth eruption, primary MM: Familial Mediterranean fever, AD MM: Familial Mediterranean fever, AR MM: Familial cold autoinflammatory syndrome 2 MM: Fanconi anemia, complementation group A MM: Fanconi anemia, complementation group C MM: Fanconi anemia, complementation group D1 MM: Fanconi anemia, complementation group E MM: Fanconi anemia, complementation group F MM: Fanconi anemia, complementation group G MM: Fanconi anemia, complementation group I MM: Fanconi anemia, complementation group N MM: Fanconi-Bickel syndrome MM: Alpha-thalassemia/mental retardation syndrome MM: Febrile seizures, familial, 3A MM: Febrile seizures, familial, 3B MM: Febrile seizures, familial, 4 MM: Fechtner syndrome MM: Feingold syndrome MM: Fetal akinesia deformation sequence MM: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MM: Fetal hemoglobin quantitative trait locus 1 MM: Fetal hemoglobin quantitative trait locus 1 MM: Fibrosis of extraocular muscles, congenital, 2 MM: Fish-eye disease MM: Fletcher factor deficiency MM: Focal cortical dysplasia, Taylor balloon cell type MM: Folate malabsorption, hereditary MM: Alport syndrome MM: Foveomacular dystrophy, adult-onset, with choroidal neovascularization MM: Fragile X syndrome MM: Fraser syndrome MM: Fraser syndrome MM: Frasier syndrome MM: Friedreich ataxia with retained reflexes MM: Friedreich ataxia MM: Frontometaphyseal dysplasia MM: Frontonasal dysplasia 1 MM: Frontotemporal lobar degeneration with ubiquitin-positive inclusions MM: Frontotemporal lobar degeneration, TARDBP-related MM: Fructose intolerance MM: Fucosidosis MM: Fucosyltransferase 6 deficiency MM: Fuhrmann syndrome MM: Fundus albipunctatus MM: Alternating hemiplegia of childhood MM: Fundus flavimaculatus MM: GABA-transaminase deficiency MM: GLUT1 deficiency syndrome 1 MM: GLUT1 deficiency syndrome 2 MM: GM1-gangliosidosis, type I MM: GM1-gangliosidosis, type II MM: GM1-gangliosidosis, type III MM: GM2-gangliosidosis, AB variant MM: GM2-gangliosidosis, several forms MM: Alveolar capillary dysplasia with misalignment of pulmonary veins MM: GRACILE syndrome MM: Galactokinase deficiency with cataracts MM: Galactose epimerase deficiency MM: Galactosemia MM: Gallbladder disease 1 MM: Gallbladder disease 4 MM: Gardner syndrome MM: Gastric cancer, familial diffuse, with or without cleft lip and/or palate MM: Gastric cancer, somatic MM: Alzheimer disease 1, familial MM: Gastric cancer, somatic MM: Gastric cancer, somatic MM: Gastric cancer, somatic MM: Gastric cancer, somatic MM: Gastrointestinal stromal tumor, somatic MM: Gaucher disease, atypical MM: 46XY sex reversal 2, dosage-sensitive MM: Alzheimer disease, type 3 MM: Gaucher disease, perinatal lethal MM: Gaucher disease, type I MM: Gaucher disease, type II MM: Gaucher disease, type III MM: Gaucher disease, type IIIC MM: Gaze palsy, horizontal, with progressive scoliosis MM: Geleophysic dysplasia 1 MM: Alzheimer disease, type 3, with spastic paraparesis and apraxia MM: Gerstmann-Straussler disease MM: Giant platelet disorder, isolated MM: Gillespie syndrome MM: Gitelman syndrome MM: Glanzmann thrombasthenia MM: Glanzmann thrombasthenia MM: Glaucoma 1, open angle, 1O MM: Glaucoma 1, open angle, E MM: Glaucoma 1, open angle, G MM: Alzheimer disease, type 3, with spastic paraparesis and unusual plaques MM: Glaucoma 1A, primary open angle MM: Glaucoma 3, primary congenital, D MM: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset MM: Glioblastoma, somatic MM: Glomerulosclerosis, focal segmental, 1 MM: Glomerulosclerosis, focal segmental, 2 MM: Glutamate formiminotransferase deficiency MM: Alzheimer disease-2 MM: Glutaric acidemia IIA MM: Glutaric acidemia IIB MM: Glutaric acidemia IIC MM: Glutathione synthetase deficiency MM: Glycine N-methyltransferase deficiency MM: Glycine encephalopathy MM: Glycine encephalopathy MM: Glycogen storage disease 0, muscle MM: Alzheimer disease-4 MM: Glycogen storage disease II MM: Glycogen storage disease IIIa MM: Glycogen storage disease IIIb MM: Glycogen storage disease IV MM: Glycogen storage disease Ia MM: Glycogen storage disease Ib MM: Glycogen storage disease Ic MM: Glycogen storage disease VI MM: Glycogen storage disease VII MM: Glycogen storage disease X MM: Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E MM: Glycogen storage disease XII MM: Glycogen storage disease XIII MM: Glycogen storage disease XIV MM: Glycogen storage disease of heart, lethal congenital MM: Glycogen storage disease, type 0 MM: Gnathodiaphyseal dysplasia MM: Goldberg-Shprintzen megacolon syndrome MM: Greig cephalopolysyndactyly syndrome MM: Amelogenesis imperfecta, type IB MM: Griscelli syndrome, type 2 MM: Griscelli syndrome, type 3 MM: Growth hormone deficiency with pituitary anomalies MM: Growth hormone deficiency, isolated, type IB MM: Growth hormone insensitivity with immunodeficiency MM: Growth retardation, developmental delay, coarse facies, and early death MM: Gyrate atrophy of choroid and retina with or without ornithinemia MM: HARP syndrome MM: HDL deficiency, type 2 MM: Amelogenesis imperfecta, type IC MM: HMG-CoA synthase-2 deficiency MM: Haim-Munk syndrome MM: Hallermann-Streiff syndrome MM: Hand-foot-uterus syndrome MM: Hartnup disorder MM: Hawkinsinuria MM: Hay-Wells syndrome MM: Amelogenesis imperfecta, type IIA1 MM: Hemangioblastoma, cerebellar, somatic MM: Hemangioma, capillary infantile, somatic MM: Hemangioma, capillary infantile, somatic MM: Hemochromatosis MM: Hemochromatosis, type 2A MM: Amish infantile epilepsy syndrome MM: Hemochromatosis, type 2B MM: Hemochromatosis, type 3 MM: Hemochromatosis, type 4 MM: Hemoglobin H disease, nondeletional MM: Hemolytic anemia due to G6PD deficiency MM: Hemolytic anemia due to adenylate kinase deficiency MM: Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MM: Hemolytic anemia due to glutathione synthetase deficiency MM: Hemolytic anemia due to triosephosphate isomerase deficiency MM: 46XY sex reversal 3 MM: Amyloidosis, 3 or more types MM: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MM: Hemophagocytic lymphohistiocytosis, familial, 2 MM: Hemophagocytic lymphohistiocytosis, familial, 3 MM: Hemophagocytic lymphohistiocytosis, familial, 4 MM: Hemophagocytic lymphohistiocytosis, familial, 5 MM: Hemophilia A MM: Hemophilia B MM: Hemosiderosis, systemic, due to aceruloplasminemia MM: Hennekam lymphangiectasia-lymphedema syndrome MM: Amyloidosis, Finnish type MM: Hepatic failure, early onset, and neurologic disorder MM: Hepatic lipase deficiency MM: Hepatocellular carcinoma MM: Hepatocellular carcinoma MM: Amyloidosis, hereditary renal MM: Hereditary motor and sensory neuropathy VI MM: Hereditary persistence of fetal hemoglobin MM: Hermansky-Pudlak syndrome 1 MM: Hermansky-Pudlak syndrome 2 MM: Hermansky-Pudlak syndrome 3 MM: Hermansky-Pudlak syndrome 4 MM: Hermansky-Pudlak syndrome 7 MM: Heterotaxy, visceral, 1, X-linked 306955 MM: Amyloidosis, hereditary, transthyretin-related MM: Heterotopia, periventricular MM: Heterotopia, periventricular, ED variant MM: Hirschsprung disease, cardiac defects, and autonomic dysfunction MM: Holocarboxylase synthetase deficiency MM: Holoprosencephaly-3 MM: Holoprosencephaly-4 MM: Holt-Oram syndrome MM: Amyloidosis, primary localized cutaneous, 1 MM: Homocysteine, total plasma, elevated MM: Homocystinuria due to MTHFR deficiency MM: Homocystinuria, B6-responsive and nonresponsive types MM: Homocystinuria, cblD type, variant 1 MM: Hoyeraal-Hreidarsson syndrome MM: Huntington disease-like 1 MM: Hutchinson-Gilford progeria MM: Hydatidiform mole MM: Hydranencephaly with abnormal genitalia MM: Amyotrophic lateral sclerosis 1 MM: Hydrolethalus syndrome MM: Hyper-IgD syndrome MM: Hyper-IgE recurrent infection syndrome MM: Hyper-IgE recurrent infection syndrome, autosomal recessive MM: Hyperalphalipoproteinemia 2 MM: Hyperalphalipoproteinemia MM: Hyperbilirubinemia, familial transcient neonatal MM: Amyotrophic lateral sclerosis 10, with or without FTD MM: Hypercarotenemia and vitamin A deficiency, autosomal dominant MM: Hypercholanemia, familial MM: Hypercholanemia, familial MM: Hypercholesterolemia, due to ligand-defective apo B MM: Hypercholesterolemia, familial MM: Hypercholesterolemia, familial, 3 MM: Hypercholesterolemia, familial, autosomal recessive MM: Hyperchylomicronemia, late-onset MM: Hyperekplexia 2, autosomal recessive MM: Amyotrophic lateral sclerosis 11 MM: Hyperekplexia 3 MM: Hyperekplexia, hereditary 1, autosomal dominant or recessive MM: Hypereosinophilic syndrome, idiopathic, resistant to imatinib MM: Hyperglycinuria MM: Hyperinsulinemic hypoglycemia, familial, 1 MM: Hyperinsulinemic hypoglycemia, familial, 2 MM: Hyperinsulinemic hypoglycemia, familial, 3 MM: Hyperkalemic periodic paralysis, type 2 MM: Hyperlipoproteinemia, type III MM: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MM: Hyperostosis, endosteal MM: Hyperoxaluria, primary, type 1 MM: Hyperoxaluria, primary, type II MM: Hyperparathyroidism, familial primary MM: Hyperparathyroidism, neonatal MM: Hyperparathyroidism-jaw tumor syndrome MM: Hyperphenylalaninemia, BH4-deficient, A MM: Hyperphenylalaninemia, BH4-deficient, B MM: Hyperphenylalaninemia, BH4-deficient, C MM: Hyperphenylalaninemia, BH4-deficient, D MM: Hyperpigmentation, familial progressive, 2 MM: Hyperproinsulinemia, familial, with or without diabetes MM: 46XY sex reversal 5 MM: Amyotrophic lateral sclerosis 17 MM: Hyperprolinemia, type I MM: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy MM: Hyperthyroidism, familial gestational MM: Hyperthyroidism, nonautoimmune MM: Hyperuricemic nephropathy, familial juvenile 1 MM: Hypobetalipoproteinemia MM: Hypobetalipoproteinemia, normotriglyceridemic MM: Hypocalcemia, autosomal dominant MM: Hypocalcemia, autosomal dominant, with Bartter syndrome MM: Hypocalciuric hypercalcemia, type I MM: Hypochondroplasia MM: Hypochromic microcytic anemia MM: Hypoglycemia of infancy, leucine-sensitive MM: Amyotrophic lateral sclerosis 4, juvenile MM: Hypogonadism, hypergonadotropic MM: Hypogonadotropic hypogonadism 10 with or without anosmia MM: Hypogonadotropic hypogonadism 11 with or without anosmia MM: Hypogonadotropic hypogonadism 2 with or without anosmia MM: Hypogonadotropic hypogonadism 3 with or without anosmia MM: Hypogonadotropic hypogonadism 4 with or without anosmia MM: Hypogonadotropic hypogonadism 5 with or without anosmia MM: Hypogonadotropic hypogonadism 7 with or without anosmia MM: Hypogonadotropic hypogonadism 8 with or without anosmia MM: Hypogonadotropic hypogonadism 9 with or without anosmia MM: Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia MM: Hypokalemic periodic paralysis, type 1 MM: Hypokalemic periodic paralysis, type 2 MM: Hypomagnesemia 3, renal MM: Hypomagnesemia 4, renal MM: Hypomagnesemia 5, renal, with ocular involvement MM: Hypomagnesemia-2, renal MM: Hypoparathyroidism, autosomal dominant MM: Hypoparathyroidism, autosomal recessive MM: Amyotrophic lateral sclerosis 8 MM: Hypoparathyroidism, familial isolated MM: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MM: Hypoparathyroidism-retardation-dysmorphism syndrome MM: Hypophosphatasia, adult MM: Hypophosphatasia, childhood MM: Hypophosphatasia, infantile MM: Hypophosphatemic rickets with hypercalciuria MM: Hypophosphatemic rickets, AR MM: Hypophosphatemic rickets, autosomal dominant MM: Hypophosphatemic rickets, autosomal recessive, 2 MM: Amyotrophic lateral sclerosis 9 MM: Hypoplastic left heart syndrome 1 MM: Hypospadias 2, X-linked MM: Hypothryoidism, congenital, nongoitrous 4 MM: Hypothyroidism, congenital, nongoitrous, 1 275200 MM: Amyotrophy, hereditary neuralgic MM: Hypotrichosis 8 MM: Hypotrichosis, congenital, with juvenile macular dystrophy MM: Hypotrichosis-lymphedema-telangiectasia syndrome MM: IMAGE syndrome MM: IRAK4 deficiency MM: IVIC syndrome MM: Analbuminemia MM: Ichthyosis bullosa of Siemens MM: Ichthyosis histrix, Curth-Macklin type MM: Ichthyosis vulgaris MM: Ichthyosis with confetti MM: Ichthyosis, autosomal recessive 4B (harlequin) MM: Ichthyosis, congenital, autosomal recessive 1 MM: Ichthyosis, congenital, autosomal recessive 3 MM: Ichthyosis, congenital, autosomal recessive 4A MM: Ichthyosis, congenital, autosomal recessive 5 MM: Ichthyosis, cyclic, with epidermolytic hyperkeratosis MM: Andersen syndrome MM: Ichthyosis, cyclic, with epidermolytic hyperkeratosis MM: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 MM: Immunodeficiency due to defect in CD3-epsilon MM: Immunodeficiency due to defect in CD3-gamma MM: Immunodeficiency due to defect in CD3-zeta MM: Immunodeficiency due to ficolin 3 deficiency MM: Androgen insensitivity MM: Immunodeficiency with hyper IgM, type 5 MM: Immunodeficiency with hyper-IgM, type 2 MM: Immunodeficiency with hyper-IgM, type 3 MM: Immunodeficiency, X-linked, with hyper-IgM MM: Immunodeficiency, common variable, 2 MM: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MM: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked MM: 5-fluorouracil toxicity MM: Androgen insensitivity, partial, with or without breast cancer MM: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MM: Inclusion body myopathy-3 MM: Increased responsiveness to growth hormone MM: Infantile neuroaxonal dystrophy 1 MM: Inflammatory bowel disease 25, early onset, autosomal recessive MM: Insensitivity to pain, channelopathy-associated MM: Insensitivity to pain, congenital, with anhidrosis MM: Anemia, X-linked, with/without neutropenia and/or platelet abnormalities MM: Insulin resistance, severe, digenic MM: Insulin resistance, severe, digenic MM: Insulin-like growth factor I, resistance to MM: Interleukin-2 receptor, alpha chain, deficiency of MM: Intestinal pseudoobstruction, neuronal MM: Intrinsic factor deficiency MM: Iridogoniodysgenesis, type 1 MM: Iridogoniodysgenesis, type 2 MM: Anemia, congenital dyserythropoietic, type I MM: Isobutyryl-CoA dehydrogenase deficiency MM: Isovaleric acidemia MM: Jackson-Weiss syndrome MM: Jalili syndrome MM: Jawad syndrome MM: Jensen syndrome MM: Jervell and Lange-Nielsen syndrome 2 MM: Jervell and Lange-Nielsen syndrome MM: Johanson-Blizzard syndrome MM: Anemia, dyserythropoietic congenital, type II MM: Joubert syndrome 1 MM: Joubert syndrome 14 MM: Joubert syndrome 5 MM: Joubert syndrome 7 MM: Joubert syndrome 9 MM: Joubert syndrome-3 MM: Kanzaki disease MM: Anemia, hemolytic, Rh-null, regulator type MM: Keratitis-ichthyosis-deafness syndrome MM: Keratoconus 1 MM: Keratoderma, palmoplantar, with deafness MM: Kindler syndrome MM: Kleefstra syndrome MM: Anemia, hemolytic, due to UMPH1 deficiency MM: Klippel-Feil syndrome 1, autosomal dominant MM: Knobloch syndrome, type 1 MM: Krabbe disease MM: L-2-hydroxyglutaric aciduria MM: LADD syndrome MM: LADD syndrome MM: LADD syndrome MM: LDL cholesterol level QTL2 MM: LEOPARD syndrome 1 MM: Anemia, hypochromic microcytic MM: LEOPARD syndrome 2 MM: LIG4 syndrome MM: Lactase deficiency, congenital MM: Lactase persistance/nonpersistance MM: Lactate dehydrogenase-B deficiency MM: Laron dwarfism MM: Larsen syndrome MM: Anemia, neonatal hemolytic, fatal and near-fatal MM: Lathosterolosis MM: Leber congenital amaurosis 1 MM: Leber congenital amaurosis 13 MM: Leber congenital amaurosis 3 MM: Leber congenital amaurosis 4 MM: Leber congenital amaurosis 5 MM: Leber congenital amaurosis 6 MM: Leber congenital amaurosis 7 MM: Leber congenital amaurosis 8 MM: Left ventricular noncompaction 3, with or without dilated cardiomyopathy MM: Left ventricular noncompaction 5 MM: Left ventricular noncompaction 6 MM: Left-right axis malformations MM: Legius syndrome MM: Leigh syndrome due to cytochrome c oxidase deficiency MM: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive MM: Leigh syndrome due to mitochondrial complex I deficiency MM: Leigh syndrome due to mitochondrial complex I deficiency MM: Leigh syndrome MM: Leigh syndrome MM: Leigh syndrome MM: Leigh syndrome MM: Leigh syndrome, French-Canadian type MM: Leigh syndrome, due to COX deficiency MM: Leiomyomatosis and renal cell cancer MM: 6-mercaptopurine sensitivity MM: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive MM: Leprechaunism MM: Lethal congenital contractural syndrome 3 MM: Lethal congenital contracture syndrome 1 MM: Leukemia, acute lymphoblastic MM: Leukemia, acute myeloid MM: Leukemia, acute myeloid MM: Anemia, sideroblastic, with ataxia MM: Leukemia, acute myeloid MM: Leukemia, acute myeloid, reduced survival in MM: Leukemia, acute myeloid, somatic MM: Leukemia, juvenile myelomonocytic MM: Leukemia, juvenile myelomonocytic MM: Leukocyte adhesion deficiency MM: Leukocyte adhesion deficiency, type III MM: Leukodystrophy, hypomyelinating, 2 MM: Leukodystrophy, hypomyelinating, 4 MM: Leukodystrophy, hypomyelinating, 5 MM: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation MM: Leukoencephalopathy with vanishing white matter MM: Leukoencephalopathy with vanishing white matter MM: Leukoencephalopathy with vanishing white matter MM: Leukoencephalopathy with vanishing white matter MM: Angelman syndrome MM: Leukoencephalopathy, cystic, without megalencephaly MM: Leukoencephaly with vanishing white matter MM: Lhermitte-Duclos syndrome MM: Li-Fraumeni syndrome MM: Liebenberg syndrome MM: Lipase deficiency, combined MM: Lipodystrophy, congenital generalized, type 1 MM: Lipodystrophy, congenital generalized, type 3 MM: Lipodystrophy, familial partial, 2 MM: Lipodystrophy, familial partial, type 3 MM: Lipoid adrenal hyperplasia MM: Lipoprotein glomerulopathy MM: Lipoprotein lipase deficiency MM: Lissencephaly 1 MM: Lissencephaly, X-linked 2 MM: Lissencephaly, X-linked MM: Angioedema, hereditary, type III MM: Liver failure, transient infantile MM: Loeys-Dietz syndrome, type 1A MM: Loeys-Dietz syndrome, type 1B MM: Loeys-Dietz syndrome, type 2A MM: Loeys-Dietz syndrome, type 2B MM: Long QT syndrome 12 MM: Long QT syndrome-1 MM: Long QT syndrome-10 MM: Long QT syndrome-11 MM: Long QT syndrome-2 MM: Angioedema, hereditary, types I and II MM: Long QT syndrome-3 MM: Long QT syndrome-4 MM: Long QT syndrome-5 MM: Long QT syndrome-6 MM: Long QT syndrome-9 MM: Lujan-Fryns syndrome MM: Lung cancer MM: Lung cancer, somatic MM: Lymphangioleiomyomatosis MM: Lymphangioleiomyomatosis, somatic MM: Lymphedema, hereditary I MM: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus MM: Lymphedema-distichiasis syndrome MM: Lymphoma, B-cell non-Hodgkin, somatic MM: Lymphoma, mantle cell MM: Lymphoma, non-Hodgkin MM: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle MM: Lymphoma, non-Hodgkin, somatic MM: Lymphoma, somatic MM: Lymphoproliferative syndrome 1 MM: Lymphoproliferative syndrome, X-linked, 2 MM: Lymphoproliferative syndrome, X-linked MM: Lysinuric protein intolerance MM: Lysyl hydroxylase 3 deficiency MM: MASA syndrome MM: MASP2 deficiency MM: Aniridia MM: MHC class II deficiency, complementation group B MM: MODY, type II MM: MODY, type III MM: Macrocephaly/autism syndrome MM: Macrothrombocytopenia and progressive sensorineural deafness MM: Macrothrombocytopenia, autosomal dominant, TUBB1-related MM: Macular corneal dystrophy MM: ?Abruzzo-Erickson syndrome MM: Anonychia congenita MM: Macular degeneration, age-related, 11 MM: Macular degeneration, age-related, 2 MM: Macular degeneration, age-related, 3 MM: Macular degeneration, age-related, 6 MM: Macular degeneration, juvenile MM: Macular dystrophy MM: Macular dystrophy, patterned MM: Macular dystrophy, vitelliform MM: Maculopathy, bull's-eye MM: Anterior segment anomalies with or without cataract MM: Majeed syndrome MM: Malignant melanoma, somatic MM: Malonyl-CoA decarboxylase deficiency MM: Malouf syndrome MM: Mandibuloacral dysplasia with type B lipodystrophy MM: Mandibuloacral dysplasia MM: Maple syrup urine disease, type II MM: Maple syrup urine disease, type Ib MM: Marfan syndrome MM: Marinesco-Sjogren syndrome MM: Martsolf syndrome MM: Maturity-onset diabetes of the young 6 MM: Maturity-onset diabetes of the young, type 10 MM: Maturity-onset diabetes of the young, type IX MM: Maturity-onset diabetes of the young, type VII MM: May-Hegglin anomaly MM: McArdle disease MM: McCune-Albright syndrome MM: McKusick-Kaufman syndrome MM: McLeod syndrome with or without chronic granulomatous disease MM: Meacham syndrome MM: Meckel syndrome 5 MM: Meckel syndrome 7 MM: Medullary cystic kidney disease 2 MM: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MM: Medullary thyroid carcinoma MM: Medullary thyroid carcinoma, familial MM: Medulloblastoma, desmoplastic MM: Meesmann corneal dystrophy MM: Meesmann corneal dystrophy MM: Megalencephalic leukoencephalopathy with subcortical cysts MM: Megaloblastic anemia-1, Finnish type MM: Megaloblastic anemia-1, Norwegian type MM: Melanoma and neural system tumor syndrome MM: Melanoma, malignant, somatic MM: Melanoma, malignant, somatic MM: Meleda disease MM: Melnick-Needles syndrome MM: Meningioma, NF2-related, somatic MM: Menkes disease MM: Mental retardation, X-linked 29 and others MM: Mental retardation, X-linked 30/47 MM: Mental retardation, X-linked 41 MM: Mental retardation, X-linked 45 MM: Mental retardation, X-linked 58 MM: Mental retardation, X-linked 88 MM: Mental retardation, X-linked 89 MM: Mental retardation, X-linked 92 MM: Aortic aneurysm, familial thoracic 6 MM: Mental retardation, X-linked syndromic 16 MM: Mental retardation, X-linked syndromic, Fried type MM: Mental retardation, X-linked syndromic, Lubs type MM: Mental retardation, X-linked syndromic, Nascimento-type MM: Mental retardation, X-linked syndromic, Turner type MM: Mental retardation, X-linked, Snyder-Robinson type MM: Mental retardation, X-linked, syndromic 13 MM: Mental retardation, X-linked, with epilepsy MM: Aortic valve disease MM: Mental retardation, autosomal dominant 3 MM: Mental retardation, autosomal dominant 4 MM: Mental retardation, autosomal dominant 5 MM: Mental retardation, autosomal recessive 14 MM: Mental retardation, autosomal recessive 2 MM: Mental retardation, truncal obesity, retinal dystrophy, and micropenis MM: Mental retardation-hypotonic facies syndrome, X-linked MM: Apert syndrome MM: Mesothelioma, somatic MM: Metachondromatosis MM: Metachromatic leukodystrophy due to SAP-b deficiency MM: Metachromatic leukodystrophy MM: Metaphyseal anadysplasia 1 MM: Metaphyseal chondrodysplasia, Murk Jansen type MM: Metaphyseal chondrodysplasia, Schmid type MM: Aphakia, congenital primary MM: Metatropic dysplasia MM: Methemoglobinemia, type I MM: Methemoglobinemia, type II MM: Methemoglobinemias, alpha- MM: Methemoglobinemias, beta- MM: Methionine adenosyltransferase deficiency, autosomal recessive MM: Methylmalonate semialdehyde dehydrogenase deficiency MM: Methylmalonic aciduria and homocystinuria, cblC type MM: Methylmalonic aciduria and homocystinuria, cblD type MM: Methylmalonic aciduria, cblD type, variant 2 MM: Methylmalonic aciduria, mut(0) type MM: Methylmalonic aciduria, vitamin B12-responsive MM: Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type MM: Methylmalonyl-CoA epimerase deficiency MM: Mevalonic aciduria MM: Microcephalic osteodysplastic primordial dwarfism, type II MM: Microcephaly 1, primary, autosomal recessive MM: Microcephaly 6, primary, autosomal recessive MM: Microcephaly 7, primary, autosomal recessive MM: Microcephaly, Amish type MM: Aplasia of lacrimal and salivary glands MM: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma MM: Microphthalmia with cataract 2 MM: Microphthalmia with coloboma 6, digenic MM: Microphthalmia, isolated 3 MM: Microphthalmia, isolated 4 MM: Microphthalmia, isolated 5 MM: Microphthalmia, isolated, with coloboma 8 MM: Microphthalmia, syndromic 2 MM: Apnea, postanesthetic MM: Microphthalmia, syndromic 3 MM: Microphthalmia, syndromic 5 MM: Microphthalmia, syndromic 9 MM: Microtia, hearing impairment, and cleft palate MM: Microvillus inclusion disease MM: Migraine, familial basilar MM: Migraine, familial hemiplegic, 1 MM: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia MM: Migraine, familial hemiplegic, 2 MM: ApoA-I and apoC-III deficiency, combined MM: Migraine, familial hemiplegic, 3 MM: Minicore myopathy with external ophthalmoplegia MM: Mismatch repair cancer syndrome MM: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MM: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MM: Mitochondrial DNA depletion syndrome 4A (Alpers type) MM: Mitochondrial DNA depletion syndrome 4B (MNGIE type) MM: Apparent mineralocorticoid excess MM: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) MM: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MM: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MM: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MM: Mitochondrial DNA depletion syndrome 8B (MNGIE type) MM: Mitochondrial complex 1 deficiency MM: Mitochondrial complex I deficiency MM: Mitochondrial complex I deficiency MM: Mitochondrial complex I deficiency MM: Mitochondrial complex I deficiency MM: Argininemia MM: Mitochondrial complex I deficiency MM: Mitochondrial complex I deficiency MM: Mitochondrial complex III deficiency, nuclear type 1 MM: Mitochondrial complex IV deficiency MM: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MM: Mitochondrial myopathy and sideroblastic anemia 1 MM: Mitochondrial phosphate carrier deficiency MM: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MM: Argininosuccinic aciduria MM: Mitochondrial respiratory chain complex II deficiency MM: Miyoshi muscular dystrophy 1 MM: Mohr-Tranebjaerg syndrome MM: Molybdenum cofactor deficiency, type A MM: Molybdenum cofactor deficiency, type B MM: Monilethrix MM: Monilethrix MM: Monilethrix MM: Aromatase deficiency MM: Morning glory disc anomaly MM: Mosaic variegated aneuploidy syndrome 1 MM: Muckle-Wells syndrome MM: Mucolipidosis II alpha/beta MM: Mucolipidosis III alpha/beta MM: Mucolipidosis IV MM: Mucopolysaccharidisis type IIIA (Sanfilippo A) MM: Mucopolysaccharidosis II MM: Mucopolysaccharidosis IVA MM: Mucopolysaccharidosis Ih MM: Mucopolysaccharidosis Ih/s MM: Mucopolysaccharidosis Is MM: Mucopolysaccharidosis VII MM: Mucopolysaccharidosis type IIIB (Sanfilippo B) MM: Mucopolysaccharidosis type IIIC (Sanfilippo C) MM: Mucopolysaccharidosis type IIID MM: Mucopolysaccharidosis type IVB (Morquio) MM: Mucopolysaccharidosis type IX MM: ?Fetal hydantoin syndrome MM: Arrhythmogenic right ventricular dysplasia 12 MM: Mucopolysaccharidosis type VI (Maroteaux-Lamy) MM: Muenke syndrome MM: Muir-Torre syndrome MM: Mulibrey nanism MM: Mullerian aplasia and hyperandrogenism MM: Multiple endocrine neoplasia 1 MM: Multiple endocrine neoplasia IIA MM: Multiple endocrine neoplasia IIB MM: Multiple pterygium syndrome, lethal type MM: Arrhythmogenic right ventricular dysplasia 2 MM: Multiple synostoses syndrome 2 MM: Multiple synostoses syndrome 3 MM: Multisystemic smooth muscle dysfunction syndrome MM: Muscular dystrophy with epidermolysis bullosa simplex MM: Muscular dystrophy, congenital MM: Muscular dystrophy, limb-girdle, type 1A MM: Muscular dystrophy, limb-girdle, type 1B MM: Muscular dystrophy, limb-girdle, type 2A MM: Muscular dystrophy, limb-girdle, type 2B MM: Arrhythmogenic right ventricular dysplasia 5 MM: Muscular dystrophy, limb-girdle, type 2C MM: Muscular dystrophy, limb-girdle, type 2D MM: Muscular dystrophy, limb-girdle, type 2E MM: Muscular dystrophy, limb-girdle, type 2F MM: Muscular dystrophy, limb-girdle, type 2G MM: Muscular dystrophy, limb-girdle, type 2H MM: Muscular dystrophy, limb-girdle, type IC MM: Muscular dystrophy, rigid spine, 1 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MM: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 MM: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MM: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MM: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 MM: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 MM: Arrhythmogenic right ventricular dysplasia 9 MM: Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MM: Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 MM: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MM: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MM: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MM: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MM: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MM: Myasthenia, limb-girdle, familial MM: Myasthenic syndrome, acetazolamide-responsive MM: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency MM: Arterial calcification, generalized, of infancy, 1 MM: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency MM: Myasthenic syndrome, congenital, associated with episodic apnea MM: Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency MM: Myasthenic syndrome, fast-channel congenital MM: Myasthenic syndrome, fast-channel congenital MM: Myasthenic syndrome, slow-channel congenital MM: Myasthenic syndrome, slow-channel congenital MM: Mycobacterial infection, atypical, familial disseminated MM: Myelokathexis, isolated MM: Myeloperoxidase deficiency MM: Myhre syndrome MM: Myoadenylate deaminase deficiency MM: Myoglobinuria, acute recurrent, autosomal recessive MM: Myokymia MM: Myopathy due to CPT II deficiency MM: Myopathy, actin, congenital, with cores MM: Myopathy, actin, congenital, with excess of thin myofilaments MM: Myopathy, centronuclear MM: Arterial tortuosity syndrome MM: Myopathy, centronuclear, 3 MM: Myopathy, centronuclear, autosomal recessive MM: Myopathy, congenital, with fiber-type disproportion 1 MM: Myopathy, congenital, with fiber-type disproportion MM: Myopathy, distal 2 MM: Myopathy, distal, 4 MM: Myopathy, distal, Tateyama type MM: Myopathy, distal, with anterior tibial onset MM: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MM: Myopathy, myofibrillar, 1 MM: Myopathy, myofibrillar, 5 MM: Myopathy, myofibrillar, BAG3-related MM: Myopathy, myofibrillar, ZASP-related MM: Myopathy, myofibrillar, alpha-B crystallin-related MM: Myopathy, myosin storage MM: Myopathy, nemaline, 3 MM: Myopathy, spheroid body MM: Myotilinopathy MM: Myotonia congenita, atypical, acetazolamide-responsive MM: Myotonia congenita, dominant MM: Myotonia congenita, recessive MM: Myotonia levior, recessive MM: N-acetylglutamate synthase deficiency MM: Naegeli-Franceschetti-Jadassohn syndrome MM: Nail-patella syndrome MM: Nanophthalmos 2 MM: ?Male pseudohermaphroditism due to defective LH MM: Arthrogryposis, distal, type 2B MM: Narcolepsy 1 MM: Nasu-Hakola disease MM: Nasu-Hakola disease MM: Naxos disease MM: Nemaline myopathy 1, autosomal dominant MM: Nemaline myopathy 2, autosomal recessive MM: Nemaline myopathy 7 MM: Nemaline myopathy MM: Nemaline myopathy, Amish type MM: Nephrogenic syndrome of inappropriate antidiuresis MM: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 MM: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 MM: Nephronophthisis 1, juvenile MM: Nephronophthisis 2, infantile MM: Nephronophthisis 3 MM: Nephronophthisis 4 MM: Nephronophthisis 9 MM: Nephrotic syndrome, type 1 MM: Arthrogryposis, renal dysfunction, and cholestasis 1 MM: Nephrotic syndrome, type 2 MM: Nephrotic syndrome, type 4 MM: Netherton syndrome MM: Neural tube defects MM: Neuroblastoma with Hirschsprung disease MM: Neurodegeneration due to cerebral folate transport deficiency MM: Neurodegeneration with brain iron accumulation 2B MM: Neurodegeneration with brain iron accumulation 3 MM: Neurofibromatosis, type 2 MM: Arthropathy, progressive pseudorheumatoid, of childhood MM: Neuromuscular disease, congenital, with uniform type 1 fiber MM: Neuronopathy, distal hereditary motor, type VB MM: Neuropathy, congenital hypomyelinating, 1 MM: Neuropathy, hereditary sensory and autonomic, type IA MM: Neuropathy, hereditary sensory and autonomic, type II MM: Neuropathy, hereditary sensory and autonomic, type V MM: Arthyrgryposis, distal, type 2B MM: Neuropathy, hereditary sensory, with spastic paraplegia MM: Neuropathy, recurrent, with pressure palsies MM: Neutral lipid storage disease with myopathy MM: Neutropenia, cyclic MM: Neutropenia, nonimmune chronic idiopathic, of adults MM: Neutropenia, severe congenital 1, autosomal dominant MM: Neutropenia, severe congenital 2, autosomal dominant MM: Neutropenia, severe congenital 3, autosomal recessive MM: Neutropenia, severe congenital 4, autosomal recessive MM: Arts syndrome MM: Neutrophil immunodeficiency syndrome MM: Neutrophilia, hereditary MM: Niemann-Pick disease, type A MM: Niemann-Pick disease, type B MM: Niemann-Pick disease, type C1 MM: Niemann-Pick disease, type D MM: Niemann-pick disease, type C2 MM: Night blindness, congenital stationary (complete), 1A, X-linked MM: Aspartylglucosaminuria MM: Night blindness, congenital stationary (complete), 1B, autosomal recessive MM: Night blindness, congenital stationary, autosomal dominant 1 MM: Night blindness, congenital stationary, autosomal dominant 2 MM: Night blindness, congenital stationary, autosomal dominant 3 MM: Nijmegen breakage syndrome MM: Non-Hodgkin lymphoma, somatic MM: Nonaka myopathy MM: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in MM: Nonsmall cell lung cancer, somatic MM: Noonan syndrome 1 MM: Noonan syndrome 3 MM: Noonan syndrome 5 MM: Norrie disease MM: Norum disease MM: OI type II MM: OI type III MM: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MM: OI type IV MM: Obesity with impaired prohormone processing MM: Obesity, autosomal dominant MM: Obesity, hyperphagia, and developmental delay MM: Obesity, mild, early-onset MM: Obesity, morbid, due to leptin deficiency MM: Obesity, severe MM: Oculodentodigital dysplasia MM: Oculodentodigital dysplasia, autosomal recessive MM: Oculopharyngeal muscular dystrophy MM: Odontohypophosphatasia MM: Oligodontia-colorectal cancer syndrome MM: Omenn syndrome MM: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MM: ?Osteoporosis, involutional MM: Ataxia-telangiectasia MM: Omenn syndrome MM: Omenn syndrome MM: Omodysplasia 1 MM: Opitz GBBB syndrome, type I MM: Opitz-Kaveggia syndrome MM: Optic atrophy 1 MM: Optic atrophy 3 with cataract MM: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MM: Optic atrophy-7 MM: Atelosteogenesis II MM: Optic nerve hypoplasia and abnormalities of the central nervous system MM: Optic nerve hypoplasia MM: Ornithine transcarbamylase deficiency MM: Orofacial cleft 5 MM: Orofacial cleft 8 MM: Orolaryngeal cancer, multiple, MM: Orthostatic intolerance MM: Atelosteogenesis, type I MM: Ossification of posterior longitudinal ligament of spine MM: Osteogenesis imperfecta, type I MM: Osteogenesis imperfecta, type II MM: Osteogenesis imperfecta, type III MM: Osteogenesis imperfecta, type IV MM: Osteogenesis imperfecta, type IX MM: Osteogenesis imperfecta, type VII MM: Osteogenesis imperfecta, type VIII MM: Osteoglophonic dysplasia MM: Atelosteogenesis, type III MM: Osteomalacia, tumor-induced MM: Osteopetrosis, autosomal dominant 1 MM: Osteopetrosis, autosomal dominant 2 MM: Osteopetrosis, autosomal recessive 2 MM: Osteopetrosis, autosomal recessive 4 MM: Osteopetrosis, autosomal recessive 5 MM: Osteopetrosis, autosomal recessive 7 MM: Osteoporosis-pseudoglioma syndrome MM: Athabaskan brainstem dysgenesis syndrome MM: Osteosarcoma, somatic MM: Osteosclerosis MM: Otofaciocervical syndrome MM: Otopalatodigital syndrome, type I MM: Otopalatodigital syndrome, type II MM: Ovalocytosis MM: Ovarian cancer, somatic, MM: Atopy MM: Ovarian cancer, somatic MM: Ovarian carcinoma MM: Ovarian carcinoma, somatic MM: Ovarian dysgenesis 1 MM: Ovarian dysgenesis 2 MM: Ovarian hyperstimulation syndrome MM: Ovarian response to FSH stimulation MM: Ovarioleukodystrophy MM: Ovarioleukodystrophy MM: Atransferrinemia MM: Ovarioleukodystrophy MM: PCWH syndrome MM: PTEN hamartoma tumor syndrome MM: Pachyonychia congenita, Jackson-Lawler type MM: Pachyonychia congenita, Jackson-Lawler type MM: Pachyonychia congenita, Jadassohn-Lewandowsky type MM: Pachyonychia congenita, Jadassohn-Lewandowsky type MM: Paget disease of bone MM: Pallister-Hall syndrome MM: Palmoplantar keratoderma, epidermolytic MM: Palmoplantar keratoderma, nonepidermolytic MM: Palmoplantar keratoderma, nonepidermolytic, focal MM: Pancreatic agenesis MM: Atrial fibrillation, familial, 11 MM: Pancreatic carcinoma, somatic MM: Pancreatitis, hereditary MM: Pancreatitis, hereditary MM: Papillon-Lefevre syndrome MM: Papillorenal syndrome MM: Paraganglioma and gastric stromal sarcoma MM: Paraganglioma and gastric stromal sarcoma MM: Paragangliomas 1, with or without deafness MM: Paragangliomas 2 MM: Paragangliomas 4 MM: Paramyotonia congenita MM: Parathyroid adenoma with cystic changes MM: Parathyroid adenoma, somatic MM: Parathyroid carcinoma MM: Parietal foramina 1 MM: Parietal foramina 2 MM: ABCD syndrome MM: Atrial fibrillation, familial, 3 MM: Parkinson disease 1 MM: Parkinson disease 11 MM: Parkinson disease 13 MM: Parkinson disease 14 MM: Parkinson disease 15, autosomal recessive MM: Parkinson disease 6, early onset MM: Parkinson disease 7, autosomal recessive early-onset MM: Parkinson disease 8 MM: Parkinson disease 9 MM: Atrial fibrillation, familial, 4 MM: Parkinson disease, juvenile, type 2 MM: Paroxysmal extreme pain disorder MM: Paroxysmal nonkinesigenic dyskinesia MM: Peeling skin syndrome, acral type MM: Pelizaeus-Merzbacher disease MM: Pendred syndrome MM: Periodic fever, familial MM: Periodontitis 1, juvenile MM: Atrial fibrillation, familial, 7 MM: Periventricular heterotopia with microcephaly MM: Peroxisomal acyl-CoA oxidase deficiency MM: Peroxisome biogenesis disorder 11A (Zellweger) MM: Peroxisome biogenesis disorder 11B MM: Peroxisome biogenesis disorder 13A (Zellweger) MM: Peroxisome biogenesis disorder 1A (Zellweger) MM: Peroxisome biogenesis disorder 1B (NALD/IRD) MM: Peroxisome biogenesis disorder 2A (Zellweger) MM: Peroxisome biogenesis disorder 2B MM: Peroxisome biogenesis disorder 3A (Zellweger) MM: Peroxisome biogenesis disorder 3B MM: Peroxisome biogenesis disorder 5A (Zellweger) MM: Peroxisome biogenesis disorder 5B MM: Peroxisome biogenesis disorder 6A (Zellweger) MM: Peroxisome biogenesis disorder 6B MM: Peroxisome biogenesis disorder 7A (Zellweger) MM: Peroxisome biogenesis disorder 7B MM: Peroxisome biogenesis disorder 8A, (Zellweger) MM: Peroxisome biogenesis disorder 8B MM: Peroxisome biogenesis disorder 9B MM: Atrial septal defect 2 MM: Perry syndrome MM: Persistent Mullerian duct syndrome, type I MM: Peters anomaly MM: Peters anomaly MM: Peters-plus syndrome MM: Pfeiffer syndrome MM: Pfeiffer syndrome MM: Atrial septal defect 7, with or without AV conduction defects MM: Phenylketonuria MM: Pheochromocytoma MM: Pheochromocytoma MM: Pheochromocytoma MM: Pheochromocytoma MM: Pheochromocytoma MM: Phosphoglycerate dehydrogenase deficiency MM: Phospholipase A2, group IV A, deficiency of MM: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive MM: Atrichia with papular lesions MM: Phosphoserine aminotransferase deficiency MM: Phosphoserine phosphatase deficiency MM: Pick disease MM: Pick disease MM: Piebaldism MM: Pigmented nodular adrenocortical disease, primary, 2 MM: Pigmented nodular adrenocortical disease, primary, 3 MM: Pilomatricoma, somatic MM: Pitt-Hopkins like syndrome 1 MM: Pitt-Hopkins syndrome MM: Pituitary adenoma, ACTH-secreting MM: Pituitary adenoma, growth hormone-secreting MM: Pituitary adenoma, prolactin-secreting MM: Pituitary hormone deficiency, combined, 1 MM: Pituitary hormone deficiency, combined, 3 MM: Pituitary hormone deficiency, combined, 5 MM: Plasminogen Tochigi disease MM: Plasminogen activator inhibitor-1 deficiency MM: Plasminogen deficiency, types I and II MM: Platelet disorder, familial, with associated myeloid malignancy MM: Platelet glycoprotein IV deficiency MM: Platelet-activating factor acetylhydrolase deficiency MM: Polycystic kidney and hepatic disease MM: Polycystic kidney disease 2 MM: Polycystic liver disease MM: Polycystic liver disease MM: Atrioventricular septal defect, partial, with heterotaxy syndrome MM: Polyglucosan body disease, adult form MM: Polymicrogyria, bilateral frontoparietal MM: Polyposis, juvenile intestinal MM: Pontocerebellar hypoplasia type 4 MM: Pontocerebellar hypoplasia, type 6 MM: Auditory neuropathy, autosomal recessive, 1 MM: Popliteal pterygium syndrome 1 MM: Porencephaly 1 MM: Porokeratosis 3, disseminated superficial actinic MM: Porphyria cutanea tarda MM: Porphyria variegata MM: Porphyria, acute intermittent MM: Porphyria, acute intermittent, nonerythroid variant MM: Porphyria, congenital erythropoietic MM: Autoimmune lymphoproliferative syndrome type IV MM: Porphyria, hepatoerythropoietic MM: Precocious puberty, central MM: Preeclampsia/eclampsia 4 MM: Premature ovarian failure 2B MM: Premature ovarian failure 3 MM: Premature ovarian failure 4 MM: Premature ovarian failure 7 MM: Prion disease with protracted course MM: Autoimmune lymphoproliferative syndrome, type IA MM: Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 MM: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MM: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 MM: Progressive external ophthalmoplegia, autosomal dominant MM: Progressive external ophthalmoplegia, autosomal dominant, 3 MM: Progressive external ophthalmoplegia, autosomal recessive MM: Autoimmune lymphoproliferative syndrome, type II MM: Propionicacidemia MM: Propionicacidemia MM: Prostate cancer 1 MM: Prostate cancer, hereditary MM: Prostate cancer, progression and metastasis of MM: Prostate cancer, somatic MM: Prostate cancer, somatic MM: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia MM: Protoporphyria, erythropoietic, autosomal recessive MM: Proud syndrome MM: Pseudopseudohypoparathyroidism MM: Pseudovaginal perineoscrotal hypospadias MM: Pseudoxanthoma elasticum MM: Pseudoxanthoma elasticum, forme fruste MM: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MM: Pulmonary hypertension, primary MM: Pycnodysostosis MM: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne MM: Axenfeld-Rieger syndrome, type 1 MM: Pyridoxamine 5'-phosphate oxidase deficiency MM: Pyropoikilocytosis MM: Pyruvate carboxylase deficiency MM: Pyruvate dehydrogenase E1-alpha deficiency MM: Pyruvate dehydrogenase E1-beta deficiency MM: Pyruvate dehydrogenase E2 deficiency MM: Pyruvate kinase deficiency MM: Rapp-Hodgkin syndrome MM: Axenfeld-Rieger syndrome, type 3 MM: Refsum disease MM: Renal agenesis MM: Renal cell carcinoma, clear cell, somatic MM: Renal cell carcinoma, somatic MM: Renal cysts and diabetes syndrome MM: BCG infection, generalized familial MM: Renal tubular acidosis with deafness MM: Renal tubular acidosis, distal, autosomal recessive MM: Renal tubular acidosis, proximal, with ocular abnormalities MM: Renal tubular dysgenesis MM: Renal tubular dysgenesis MM: Renal-hepatic-pancreatic dysplasia MM: Restrictive dermopathy, lethal MM: Restrictive dermopathy, lethal MM: Retinal cone dystrophy 3B MM: Retinal cone dystrophy 4 MM: Retinal degeneration, autosomal recessive, clumped pigment type MM: Retinal degeneration, late-onset, autosomal dominant MM: Retinal dystrophy, early-onset severe MM: Retinal dystrophy, early-onset severe MM: Retinitis pigmentosa 1 MM: Bannayan-Riley-Ruvalcaba syndrome MM: Retinitis pigmentosa 11 MM: Retinitis pigmentosa 13 MM: Retinitis pigmentosa 14 MM: Retinitis pigmentosa 17 MM: Retinitis pigmentosa 18 MM: Retinitis pigmentosa 2 MM: Retinitis pigmentosa 26 MM: Retinitis pigmentosa 27 MM: Retinitis pigmentosa 3 MM: Baraitser-Winter syndrome 1 MM: Retinitis pigmentosa 35 MM: Retinitis pigmentosa 36 MM: Retinitis pigmentosa 38 MM: Retinitis pigmentosa 39 MM: Retinitis pigmentosa 4, autosomal dominant or recessive MM: Retinitis pigmentosa 43 MM: Retinitis pigmentosa 44 MM: Retinitis pigmentosa 45 MM: Retinitis pigmentosa 48 MM: Baraitser-Winter syndrome 2 MM: Retinitis pigmentosa 49 MM: Retinitis pigmentosa 7 MM: Retinitis pigmentosa 9 MM: Bardet-Biedl syndrome 1 MM: Retinitis pigmentosa, juvenile, autosomal recessive MM: Retinitis pigmentosa-12, autosomal recessive MM: Retinitis pigmentosa-40 MM: Retinoblastoma MM: Retinoblastoma, trilateral MM: Bardet-Biedl syndrome 11 MM: Retinopathy of prematurity MM: Retinoschisis MM: Rett syndrome MM: Rett syndrome, preserved speech variant MM: Rh-mod syndrome MM: Rhabdoid predisposition syndrome 1 MM: Bardet-Biedl syndrome 12 MM: Rhizomelic chondrodysplasia punctata, type 1 MM: Rhizomelic chondrodysplasia punctata, type 3 MM: Ribose 5-phosphate isomerase deficiency MM: Rickets due to defect in vitamin D 25-hydroxylation MM: Rickets, vitamin D-resistant, type IIA MM: Rieger or Axenfeld anomalies MM: Ring dermoid of cornea MM: Rippling muscle disease MM: Roberts syndrome MM: Robinow syndrome, autosomal recessive MM: Robinow-Sorauf syndrome MM: Rolandic epilepsy, mental retardation, and speech dyspraxia MM: Rubinstein-Taybi syndrome MM: SC phocomelia syndrome MM: SED, Maroteaux type MM: SERKAL syndrome MM: SFM syndrome, somatic mosaic MM: Bardet-Biedl syndrome 2 MM: Saethre-Chotzen syndrome with eyelid anomalies MM: Saethre-Chotzen syndrome MM: Saethre-Chotzen syndrome MM: Salla disease MM: Sandhoff disease, infantile, juvenile, and adult forms MM: Sarcoidosis, early-onset MM: Scaphocephaly and Axenfeld-Rieger anomaly MM: Bardet-Biedl syndrome 3 MM: Scapuloperoneal syndrome, neurogenic, Kaeser type MM: Schimke immunoosseous dysplasia MM: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MM: Schindler disease, type I MM: Schindler disease, type III MM: Schwannomatosis MM: Sclerosteosis MM: Bardet-Biedl syndrome 4 MM: Sebastian syndrome MM: Segawa syndrome, recessive MM: Seizures, benign neonatal, 1 MM: Seizures, benign neonatal, type 2 MM: Selective T-cell defect MM: Senior-Loken syndrome 5 MM: AGAT deficiency MM: Bardet-Biedl syndrome 5 MM: Senior-Loken syndrome-1 MM: Sensorineural deafness with mild renal dysfunction MM: Septooptic dysplasia MM: Severe combined immunodeficiency due to ADA deficiency MM: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation MM: Severe combined immunodeficiency, Athabascan type MM: Severe combined immunodeficiency, B cell-negative MM: Severe combined immunodeficiency, B cell-negative MM: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MM: Bardet-Biedl syndrome 6 MM: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MM: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MM: Severe combined immunodeficiency, X-linked MM: Short QT syndrome-1 MM: Short QT syndrome-2 MM: Short QT syndrome-3 MM: Short stature MM: Shwachman-Bodian-Diamond syndrome MM: Sialic acid storage disorder, infantile MM: Sialidosis, type I MM: Bardet-Biedl syndrome 7 MM: Sialidosis, type II MM: Sialuria MM: Sick sinus syndrome 1 MM: Sick sinus syndrome 2 MM: Sickle cell anemia MM: Simpson-Golabi-Behmel syndrome, type 1 MM: Single median maxillary central incisor MM: Sitosterolemia MM: Sjogren-Larsson syndrome MM: Bardet-Biedl syndrome 8 MM: Skeletal defects, genital hypoplasia, and mental retardation MM: Skin fragility-woolly hair syndrome MM: Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) MM: Slowed nerve conduction velocity, AD MM: Small patella syndrome MM: Smith-Lemli-Opitz syndrome MM: Smith-Magenis syndrome MM: Smith-McCort dysplasia MM: Snowflake vitreoretinal degeneration MM: Sotos syndrome 1 MM: Spastic paralysis, infantile onset ascending MM: Spastic paraplegia 10, autosomal dominant MM: Spastic paraplegia 11, autosomal recessive MM: Spastic paraplegia 13, autosomal dominant MM: Spastic paraplegia 15, autosomal recessive MM: Spastic paraplegia 31, autosomal dominant MM: Spastic paraplegia 33, autosomal dominant MM: Spastic paraplegia 35, autosomal recessive MM: Spastic paraplegia 39, autosomal recessive MM: Spastic paraplegia 3A, autosomal dominant MM: Spastic paraplegia 4, autosomal dominant MM: Spastic paraplegia 42, autosomal dominant MM: Spastic paraplegia 5A, autosomal recessive MM: Spastic paraplegia 6, autosomal dominant MM: Spastic paraplegia 7, autosomal recessive MM: Spastic paraplegia 8, autosomal dominant MM: Spermatogenic failure 8 MM: Spherocytosis, hereditary, type 5 MM: Spherocytosis, type 2 MM: Spherocytosis, type 3 MM: Spherocytosis, type 4 MM: Spinal muscular atrophy, X-linked 2, infantile MM: Spinal muscular atrophy, distal, autosomal recessive, 4 MM: Spinal muscular atrophy-1 MM: Spinal muscular atrophy-2 MM: Spinal muscular atrophy-3 MM: Spinal muscular atrophy-4 MM: Spinocerebellar ataxia 11 MM: Spinocerebellar ataxia 13 MM: Spinocerebellar ataxia 14 MM: Spinocerebellar ataxia 27 MM: Spinocerebellar ataxia 5 MM: Spinocerebellar ataxia 6 MM: Spinocerebellar ataxia, autosomal recessive 8 MM: Spinocerebellar ataxia, autosomal recessive with axonal neuropathy MM: Split-hand/foot malformation 4 MM: Split-hand/foot malformation 6 MM: Spondylocarpotarsal synostosis syndrome MM: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like MM: Barth syndrome MM: Spondylocostal dysostosis, autosomal recessive 2 MM: Spondylocostal dysostosis, autosomal recessive 3 MM: Spondylocostal dysostosis, autosomal recessive, 1 MM: Spondyloepimetaphyseal dysplasia MM: Spondyloepimetaphyseal dysplasia, Missouri type MM: Spondyloepiphyseal dysplasia tarda with progressive arthropathy MM: Spondyloepiphyseal dysplasia tarda MM: Spondyloepiphyseal dysplasia with congenital joint dislocations MM: Spondylometaepiphyseal dysplasia, short limb-hand type MM: Spondylometaphyseal dysplasia, Kozlowski type MM: AICA-ribosiduria due to ATIC deficiency MM: Bartter syndrome, type 2 MM: Squamous cell carcinoma, head and neck, somatic MM: Squamous cell carcinoma, head and neck, somatic MM: Stapes ankylosis with broad thumb and toes MM: Stargardt disease 1 MM: Stargardt disease 3 MM: Steatocystoma multiplex MM: Stocco dos Santos X-linked mental retardation syndrome MM: Striatal degeneration, autosomal dominant MM: Bartter syndrome, type 3 MM: Striatonigral degeneration, infantile MM: Subcortical laminal heteropia, X-linked MM: Subcortical laminar heterotopia MM: Succinic semialdehyde dehydrogenase deficiency MM: Succinyl CoA:3-oxoacid CoA transferase deficiency MM: Sucrase-isomaltase deficiency, congenital MM: Sulfite oxidase deficiency MM: Supranuclear palsy, progressive atypical MM: Supranuclear palsy, progressive MM: Bartter syndrome, type 4a MM: Sveinsson choreoretinal atrophy MM: Sweat chloride elevation without CF MM: Symphalangism, proximal MM: Symphalangism, proximal MM: Syndactyly, type III MM: Syndactyly, type V MM: Synpolydactyly with foot anomalies MM: Synpolydactyly, type II MM: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MM: Bartter syndrome, type 4b, digenic MM: T-cell prolymphocytic leukemia, somatic MM: Tangier disease MM: Tarsal-carpal coalition syndrome MM: Tay-Sachs disease MM: Telangiectasia, hereditary hemorrhagic, type 2 MM: Testicular tumor, somatic MM: Bartter syndrome, type 4b, digenic MM: Tetralogy of Fallot MM: Tetralogy of Fallot MM: Tetralogy of Fallot MM: Tetrology of Fallot MM: Thalassemia due to Hb Lepore MM: Thalassemia, alpha- MM: Thalassemia, delta- MM: Thalassemia-beta, dominant inclusion-body MM: Basal cell carcinoma, somatic MM: Thalassemias, beta- MM: Thiamine-responsive megaloblastic anemia syndrome MM: Thrombocythemia 2 MM: Thrombocytopenia 4 MM: Thrombocytopenia with beta-thalassemia, X-linked MM: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia MM: Thrombocytopenia, congenital amegakaryocytic MM: Thrombocytopenia-2 MM: Thrombophilia due to HRG deficiency MM: Thrombophilia due to activated protein C resistance MM: Thrombophilia due to antithrombin III deficiency MM: Thrombophilia due to elevated HRG MM: Thrombophilia due to protein C deficiency, autosomal dominant MM: Thrombophilia due to protein C deficiency, autosomal recessive MM: Basal laminar drusen MM: Thrombophilia due to protein S deficiency, autosomal dominant MM: Thrombophilia due to protein S deficiency, autosomal recessive MM: Thrombosis, hyperhomocysteinemic MM: Thrombotic thrombocytopenic purpura, familial MM: Beare-Stevenson cutis gyrata syndrome MM: Thyroid adenoma, hyperfunctioning, somatic MM: Thyroid carcinoma with thyrotoxicosis MM: Thyroid carcinoma, follicular MM: Thyroid carcinoma, follicular, somatic MM: Thyroid carcinoma, follicular, somatic MM: Thyroid dyshormonogenesis 3 MM: Becker muscular dystrophy MM: Thyroid hormone resistance MM: Thyroid hormone resistance, autosomal recessive MM: Thyroid hormone resistance, selective pituitary MM: Thyroxine-binding globulin deficiency MM: Tietz albinism-deafness syndrome MM: Timothy syndrome MM: Tn polyagglutination syndrome, somatic MM: Aarskog-Scott syndrome MM: Beckwith-Wiedemann syndrome MM: Tooth agenesis, selective, 1, with or without orofacial cleft MM: Tooth agenesis, selective, 3 MM: Tooth agenesis, selective, 6 MM: Townes-Brocks branchiootorenal-like syndrome MM: Townes-Brocks syndrome MM: Transposition of great arteries, dextro-looped 3 MM: Transposition of the great arteries, dextro-looped 1 MM: Treacher Collins syndrome 1 MM: Trichoepithelioma, multiple familial, 1 MM: Trichorhinophalangeal syndrome, type I MM: Trichorhinophalangeal syndrome, type III MM: Trichothiodystrophy, complementation group A MM: Trigonocephaly 1 MM: Trimethylaminuria MM: Trypsinogen deficiency MM: Tuberous sclerosis-1 MM: Tuberous sclerosis-2 MM: Tumoral calcinosis, familial, normophosphatemic MM: Tumoral calcinosis, hyperphosphatemic MM: Tumoral calcinosis, hyperphosphatemic, familial MM: Tyrosinemia, type I MM: Tyrosinemia, type II MM: UV-sensitive syndrome 1 MM: Bernard-Soulier syndrome, type A1 (recessive) MM: Ullrich congenital muscular dystrophy MM: Ulna and fibula, absence of, with sever limb deficiency MM: Ulnar-mammary syndrome MM: Urbach-Wiethe disease MM: Usher syndrome, type 1B MM: Usher syndrome, type 1C MM: Usher syndrome, type 1D MM: Usher syndrome, type 1D/F digenic MM: Bernard-Soulier syndrome, type A2 (dominant) MM: Usher syndrome, type 1D/F digenic MM: Usher syndrome, type 1F MM: Usher syndrome, type 1G MM: Usher syndrome, type 2A MM: Usher syndrome, type 2C MM: Usher syndrome, type 2C, GPR98/PDZD7 digenic MM: Usher syndrome, type 3A MM: VACTERL association, X-linked MM: VATER association with macrocephaly and ventriculomegaly MM: Bernard-Soulier syndrome, type B MM: VLCAD deficiency MM: Velocardiofacial syndrome MM: Venous malformations, multiple cutaneous and mucosal MM: Ventricular fibrillation, paroxysmal familial, 2 MM: Ventricular tachycardia, catecholaminergic polymorphic, 1 MM: Bernard-Soulier syndrome, type C MM: Ventricular tachycardia, catecholaminergic polymorphic, 2 MM: Vitamin D-dependent rickets, type I MM: Vitamin K-dependent clotting factors, combined deficiency of, 2 MM: Vitelliform macular dystrophy, adult-onset MM: Vitreoretinochoroidopathy MM: Vohwinkel syndrome MM: WHIM syndrome MM: Waardenburg syndrome, type 1 MM: Best macular dystrophy MM: Waardenburg syndrome, type 2A MM: Waardenburg syndrome, type 2E, with or without neurologic involvement MM: Waardenburg syndrome, type 3 MM: Waardenburg syndrome, type 4A MM: Waardenburg syndrome, type 4B MM: Waardenburg syndrome, type 4C MM: Waardenburg syndrome/ocular albinism, digenic MM: Warburg micro syndrome 2 MM: Bestrophinopathy MM: Warfarin resistance MM: Weill-Marchesani syndrome 1, recessive MM: Werner syndrome MM: Weyers acrodental dysostosis MM: White sponge nevus MM: White sponge nevus MM: Beta-2-adrenoreceptor agonist, reduced response to MM: Wilms tumor MM: Wilms tumor, type 1 MM: Wilson disease MM: Wolcott-Rallison syndrome MM: Wolff-Parkinson-White syndrome MM: Wolfram syndrome 2 MM: Wolfram syndrome MM: Wolfram-like syndrome, autosomal dominant MM: Wolman disease MM: Beta-ureidopropionase deficiency MM: Woolly hair, autosomal recessive 1, with or without hypotrichosis MM: Xanthinuria, type I MM: Xeroderma pigmentosum, group A MM: Xeroderma pigmentosum, group C MM: Xeroderma pigmentosum, group E, DDB-negative subtype MM: Xeroderma pigmentosum, group G MM: Xeroderma pigmentosum, variant type MM: Yunis-Varon syndrome MM: [AMP deaminase deficiency, erythrocytic] MM: Bethlem myopathy MM: [Analgesia from kappa-opioid receptor agonist, female-specific] MM: [Anhaptoglobinemia] MM: [Aquaporin-1 deficiency] MM: [Bilirubin, serum level of, QTL1] MM: [Blood group, Auberger system] MM: Bietti crystalline corneoretinal dystrophy MM: [Blood group, Colton] MM: [Blood group, Diego] MM: [Blood group, Froese] MM: [Blood group, Ii] MM: [Blood group, Kidd] MM: Bile acid malabsorption, primary MM: [Blood group, Lutheran null] MM: [Blood group, Lutheran system] MM: [Blood group, Radin] MM: [Blood group, Scianna system] MM: [Blood group, Swann] MM: [Blood group, Waldner] MM: [Blood group, Wright] MM: [Bone mineral density variability 1] MM: [Bone mineral density variation QTL] MM: [Chitotriosidase deficiency] MM: [Dopamine-beta-hydroxylase activity levels, plasma] MM: [Dysalbuminemic hyperthyroxinemia] MM: [Dysalbuminemic hyperzincemia] MM: [Dystransthyretinemic hyperthyroxinemia] MM: [Erythrocytosis, familial, 1] MM: [Ezetimibe, nonresponse to] MM: Bile acid synthesis defect, congenital, 3 MM: [Gilbert syndrome] MM: [Hair morphology 1, hair thickness] MM: [Hex A pseudodeficiency] MM: [High density lipoprotein cholesterol level QTL 10] MM: [High density lipoprotein cholesterol level QTL 11] MM: [High density lipoprotein cholesterol level QTL 12] MM: [High density lipoprotein cholesterol level QTL 7] MM: [High density lipoprotein cholesterol level QTL 9] MM: Biotinidase deficiency MM: [High molecular weight kininogen deficiency] MM: [Hyperphenylalaninemia, non-PKU mild] MM: [Hypoceruloplasminemia, hereditary] MM: [Hypohaptoglobinemia] MM: [IMPDH2 enzyme activity, variation in] MM: [IgG receptor I, phagocytic, familial deficiency of] MM: [Inosine triphosphatase deficiency] MM: [Interleukin 6, serum level of, QTL] MM: [Interleukin-6 receptor, soluble, serum level of, QTL] MM: [Kallikrein, decreased urinary activity of] MM: [Kininogen deficiency] MM: [Low density lipoprotein cholesterol level QTL6] MM: [Macrothrombocytopenia] MM: [Malaria, resistance to] MM: [Obesity, resistance to] MM: [Premature chromatid separation trait] MM: Birt-Hogg-Dube syndrome MM: [Resting heart rate] MM: [Skin/hair/eye pigmentation 1, blond/brown hair] MM: [Skin/hair/eye pigmentation 1, blue/nonblue eyes] MM: [Skin/hair/eye pigmentation 2, blond hair/fair skin] MM: [Skin/hair/eye pigmentation 2, red hair/fair skin] MM: [Skin/hair/eye pigmentation 3, blue/green eyes] MM: [Skin/hair/eye pigmentation 3, light/dark/freckling skin] MM: Achalasia-addisonianism-alacrimia syndrome MM: Bjornstad syndrome MM: [Skin/hair/eye pigmentation 7, blond/brown hair] MM: [Sodium serum level QTL 1] MM: [Superoxide dismutase, elevated extracellular] MM: [Transferrin serum level QTL2] MM: van der Woude syndrome MM: von Hippel-Lindau syndrome MM: von Willebrand disease, platelet-type MM: von Willebrand disease, type 1 MM: von Willebrand disease, types 2A, 2B, 2M, and 2N MM: Bladder cancer, somatic MM: von Willibrand disease, type 3 MM: {AIDS, rapid progression to} MM: {AIDS, slow progression to} MM: {Accelerated tumor formation, susceptibility to} MM: {Acquired long QT syndrome, reduced susceptibility to} MM: {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MM: {Alcohol dependence, protection against} MM: {Alcohol dependence, protection against} MM: {Alcohol dependence, susceptibility to} MM: {Alzheimer disease, late-onset, susceptibility to} MM: Blau syndrome MM: {Amyotrophic lateral sclerosis, susceptibility to} MM: {Amyotrophic lateral sclerosis, susceptibility to} MM: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to} MM: {Angioedema induced by ACE inhibitors, susceptibility to} MM: {Asthma, nocturnal, susceptibility to} MM: Bleeding disorder, platelet-type, 16, autosomal dominant MM: {Asthma, susceptibility to, 2} MM: {Asthma, susceptibility to} MM: {Asthma, susceptibility to} MM: {Asthma, susceptibility to} MM: {Asthma-related traits, susceptibility to, 7} MM: {Atopy, susceptibility to} MM: {Atopy, susceptibility to} MM: {Atopy, susceptibility to} MM: Bleeding disorder, platelet-type, 16, autosomal dominant MM: {Atopy, susceptibility to} MM: {Atrioventricular septal defect, susceptibility to, 2} MM: {Attention deficit-hyperactivity disorder, susceptibility to, 7} MM: {Autism susceptibility 10} MM: {Autism susceptibility 15} MM: {Autism susceptibility, X-linked 3} MM: {Autism suseptibility 9} MM: {Autoimmune disease, susceptibility to, 6} MM: {Autoimmune lymphoproliferative syndrome} MM: Blepharophimosis, epicanthus inversus, and ptosis, type 1 MM: {Autoimmune thyroid disease, susceptibility to, 3} MM: {Bardet-Biedl syndrome 14, modifier of} MM: {Benzene toxicity, susceptibility to} MM: {Bleeding disorder, platelet-type, 13, susceptibility to} MM: {Bone marrow failure, telomere-related, 1} MM: Blepharophimosis, epicanthus inversus, and ptosis, type 2 MM: {Breast cancer, invasive ductal} MM: {Breast cancer, lobular} MM: {Breast cancer, protection against} MM: {Breast cancer, susceptibility to} MM: {Breast cancer, susceptibility to} MM: Bloom syndrome MM: {Breast cancer, susceptibility to} MM: {Breast-ovarian cancer, familial, 1} MM: {Breast-ovarian cancer, familial, 2} MM: {Buruli ulcer, susceptibility to} MM: {Cancer progression/metastasis} MM: {Cardiac conduction defect, susceptibility to} MM: Achondrogenesis Ib MM: Blue cone monochromacy MM: {Celiac disease, susceptibility to, 4} MM: {Centronuclear myopathy, autosomal, modifier of} MM: {Cerebral infarction, susceptibility to} MM: {Cirrhosis, noncryptogenic, susceptibility to} MM: {Cirrhosis, noncryptogenic, susceptibility to} MM: Blue cone monochromacy MM: {Colon cancer, susceptibility to} MM: {Colorectal cancer, susceptibility to, 3} MM: {Congestive heart failure and beta-blocker response, modifier of} MM: {Coronary artery disease, autosomal dominant, 1} MM: {Coronary artery disease, autosomal dominant, 2} MM: Boomerang dysplasia MM: {Coronary artery spasm 1, susceptibility to} MM: {Coronary artery spasm 3, susceptibility to} MM: {Coronary heart disease, susceptibility to, 5} MM: {Deafness, autosomal recessive 12, modifier of} MM: Borjeson-Forssman-Lehmann syndrome MM: {Deafness, mitochondrial, modifier of} MM: {Delayed sleep phase syndrome, susceptibility to} MM: {Diabetes mellitus, insulin-dependent, 5} MM: {Diabetes mellitus, insulin-dependent} MM: Bosley-Salih-Alorainy syndrome MM: {Diabetes mellitus, noninsulin-dependent 1} MM: {Diabetes mellitus, noninsulin-dependent, 2} MM: {Diabetes mellitus, noninsulin-dependent, association with} MM: {Diabetes mellitus, noninsulin-dependent, susceptibility to} MM: {Diabetes mellitus, noninsulin-dependent, susceptibility to} MM: {Diabetes mellitus, noninsulin-dependent} MM: {Diabetes mellitus, noninsulin-dependent} MM: {Diabetes mellitus, noninsulin-dependent} MM: Bowen-Conradi syndrome MM: {Diabetes mellitus, noninsulin-dependent} MM: {Diabetes mellitus, noninsulin-dependent} MM: {Diabetes mellitus, noninsulin-dependent} MM: {Diabetes mellitus, type 1, susceptibility to} MM: {Diabetes mellitus, type 2, susceptibility to} MM: {Diabetes mellitus, type 2, susceptibility to} MM: {Diabetes, mellitus, insulin-dependent, susceptibility to, 10} MM: Brachiootic syndrome 3 MM: {Diabetes, type 1, susceptibility to} MM: {Diabetes, type 2, susceptibility to} MM: {Diabetes, type 2} MM: {Drug addiction, susceptibility to} MM: {Dyskeratosis congenita, autosomal dominant 2} MM: {Dyskeratosis congenita, autosomal recessive 4} MM: {Dyslexia, susceptibility to, 1} MM: {Dystonia-1, modifier of} MM: {Encephalopathy, acute, infection-induced, 3, susceptibility to} MM: Brachydactyly, type A1, C MM: {Epilepsy, childhood absence, susceptibility to, 2} MM: {Epilepsy, childhood absence, susceptibility to, 4} MM: {Epilepsy, childhood absence, susceptibility to, 5} MM: {Epilepsy, childhood absence, susceptibility to, 6} MM: {Epilepsy, idiopathic generalized, susceptibility to, 11} MM: Brachydactyly, type A2 MM: {Epilepsy, idiopathic generalized, susceptibility to, 6} MM: {Epilepsy, idiopathic generalized, susceptibility to, 8} MM: {Epilepsy, idiopathic generalized, susceptibility to, 9} MM: {Epilepsy, idiopathic generalized, susceptibility to} MM: {Epilepsy, juvenile absence, susceptibility to, 1} MM: {Epilepsy, juvenile absence, susceptibility to, 2} MM: {Epilepsy, juvenile myoclonic, susceptibility to, 5} MM: {Epilepsy, juvenile myoclonic, susceptibility to, 6} MM: {Epilepsy, juvenile myoclonic, susceptibility to, 8} MM: Brachydactyly, type A2 MM: {Exfoliation syndrome, susceptibility to} MM: {Glaucoma, normal tension, susceptibility to} MM: {Glioma susceptibility 2} MM: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MM: Achondroplasia MM: Brachydactyly, type B1 MM: {Glomerulosclerosis, focal segmental, 4, susceptibility to} MM: {Graves disease, susceptibility to, 4} MM: {H. pylori infection, susceptibility to} MM: Brachydactyly, type B2 MM: {Hemangioma, capillary infantile, susceptibility to} MM: {Hemangioma, capillary infantile, susceptibility to} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 4} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 5} MM: {Hemolytic uremic syndrome, atypical, susceptibility to, 6} MM: {Hemorrhage, intracerebral, susceptibility to} MM: Brachydactyly, type C MM: {Hepatitis B virus, susceptibility to} MM: {Hepatitis B virus, susceptibility to} MM: {Hepatitis C virus, response to therapy of} MM: {Herpes simplex encephalitis, susceptibility to, 2} 613002 MM: {Hirschsprung disease, susceptibility to, 1} MM: {Hirschsprung disease, susceptibility to, 2} MM: {Hirschsprung disease, susceptibility to, 3} MM: {Hirschsprung disease, susceptibility to, 4} MM: {Hyperapobetalipoproteinemia, susceptibility to} MM: Brachydactyly, type D MM: {Hypercholesterolemia, familial, due to LDLR defect, modifier of} MM: {Hypercholesterolemia, familial, modification of} MM: {Hyperlipidemia, familial combined, susceptibility to} MM: {Hypertension, diastolic, resistance to} MM: {Hypertension, essential, salt-sensitive} MM: {Hypertension, essential, susceptibility to} MM: {Hypertriglyceridemia, susceptibility to} MM: Brachydactyly, type E MM: {Hypertriglyceridemia, susceptibility to} MM: {Hypertrypsinemia, neonatal} MM: {Hypothyroidism, autoimmune} MM: {Inflammatory bowel disease 10} MM: {Inflammatory bowel disease 17, protection against} MM: {Inflammatory bowel disease 1} MM: {Intervertebral disc disease, susceptibility to} MM: {Kawasaki disease, susceptibility to} MM: {Kuru, susceptibility to} MM: {Leanness, inherited} MM: {Legionaire disease, susceptibility to} MM: {Leprosy, protection against} MM: {Leprosy, susceptibility to, 4} MM: {Leprosy, susceptibility to, 5} MM: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MM: {Leukemia, acute lymphoblastic, susceptibility to} MM: {Long QT syndrome 1, acquired, susceptibility to} MM: {Long QT syndrome-2, acquired, susceptibility to} MM: {Low density lipoprotein cholesterol level QTL 1} MM: {Lumbar disc disease, susceptibility to} MM: {Lumbar disc herniation, susceptibility to} MM: Brachyolmia type 3 MM: {Lung cancer susceptibility 2} MM: {Lung cancer susceptibility 2} MM: {Lung cancer, protection against} MM: {Macular degeneration, age-related, 1} MM: Bradyopsia MM: {Macular degeneration, age-related, 4} MM: {Macular degeneration, age-related, 7} MM: {Macular degeneration, age-related, 8} MM: {Macular degeneration, age-related, 9} MM: {Macular degeneration, age-related, neovascular type} MM: {Macular degeneration, age-related, reduced risk of} MM: {Macular degeneration, age-related, reduced risk of} MM: {Macular degeneration, age-related, susceptibility to 5} MM: {Major depressive disorder and accelerated response to antidepressant drug treatment} MM: Brain small vessel disease with Axenfeld-Rieger anomaly MM: {Major depressive disorder, response to citalopram therapy in} MM: {Malaria, cerebral, susceptibility to} MM: {Malaria, mild, susceptibility to} MM: Brain small vessel disease with hemorrhage MM: {Male germ cell tumor, somatic}, 273300, MM: {Malignant hyperthermia susceptibility 1} MM: {Malignant hyperthermia susceptibility 5} MM: {Melanoma, cutaneous malignant, 2} MM: {Melanoma, cutaneous malignant, 3} MM: {Melanoma, cutaneous malignant, 5} MM: {Melanoma, cutaneous malignant, 6} MM: {Memory impairment, susceptibility to} MM: {Meningioma} MM: {Metabolic syndrome, protection against} MM: {Microvascular complications of diabetes 1} MM: {Microvascular complications of diabetes 2} MM: Branchiooculofacial syndrome MM: {Multiple myeloma, resistance to} MM: {Multiple self-healing squamous epithelioma, susceptiblity to} MM: {Mycobacterial and salmonella infections, susceptibility to} MM: {Mycobacterial infection, atypical, familial disseminated} MM: Branchiootic syndrome 1 MM: {Mycobacterium tuberculosis, susceptibility to} MM: {Myocardial infarcation, susceptibility to} MM: {Myocardial infarction, decreased susceptibility to} MM: {Myocardial infarction, protection against} MM: Branchiootorenal syndrome 1, with or without cataracts MM: {Myocardial infarction, susceptibility to} MM: {Myocardial infarction, susceptibility to} MM: {Myocardial infarction, susceptibility to} MM: {Myoclonic epilepsy, juvenile, susceptibility to, 1} MM: {Neural tube defects, folate-sensitive, susceptibility to} MM: {Neuroblastoma, susceptibility to, 1} MM: Branchiootorenal syndrome 2 MM: {Neuroblastoma, susceptibility to, 2} MM: {Neuroblastoma, susceptibility to, 3} MM: {Nicotine addiction, susceptibility to} MM: {Nicotine dependence, protection against} MM: {Nicotine dependence, susceptibility to} MM: {Nonsmall cell lung cancer, susceptibility to} MM: {Obesity, association with} MM: {Obesity, early-onset, susceptibility to} MM: {Obesity, late-onset} MM: {Obesity, severe, and type II diabetes} MM: {Obesity, severe, susceptibility to, BMIQ9} MM: {Obesity, susceptibility to, BMIQ12} MM: {Obesity, susceptibility to, BMIQ4} MM: {Obesity, susceptibility to} MM: {Obesity, susceptibility to} MM: Breast cancer MM: {Obesity, susceptibility to} MM: {Obesity, susceptibility to} MM: {Obesity, variation in} MM: {Obsessive-compulsive disorder} MM: Breast cancer, early-onset MM: {Osteoarthritis susceptibility 1} MM: {Osteoarthritis susceptibility 2} MM: {Osteoarthritis-5} MM: {Osteoporosis, postmenopausal, susceptibility} MM: {Osteoporosis, postmenopausal} MM: {Pancreatic cancer, susceptibility to, 1} MM: Breast cancer, somatic MM: {Pancreatitis, chronic, protection against} MM: {Pancreatitis, chronic, susceptibility to} MM: {Pancreatitis, idiopathic} MM: {Parkinson disease, susceptibility to} MM: {Parkinson disease, susceptibility to} MM: {Pheochromocytoma, susceptibility to} MM: Achromatopsia-3 MM: Breast cancer, somatic MM: {Pneumococcal disease, invasive, protection against} MM: {Preeclampsia, susceptibility to} MM: {Prostate cancer, familial, susceptibility to} MM: Breast cancer, somatic MM: {Prostate cancer, hereditary, 12} MM: {Prostate cancer, hereditary, 13} MM: {Prostate cancer, hereditary, 2, susceptibility to} MM: {Prostate cancer, somatic} MM: {Prostate cancer, susceptibility to} MM: {Pseudofolliculitis barbae, susceptibility to} MM: {Pseudoxanthoma elasticum, modifier of severity of} MM: {Pseudoxanthoma elasticum, modifier of severity of} MM: {Pulmonary fibrosis, idiopathic, susceptibility to} MM: {Pulmonary fibrosis, telomere-related, 1} MM: {Rapid progression to AIDS from HIV1 infection} MM: {Reduced triglycerides, susceptibility to} MM: {Resistance to malaria due to G6PD deficiency} MM: Brody myopathy MM: {Rheumatoid arthritis, susceptibility to} MM: {Rheumatoid arthritis, susceptibility to} MM: {Sarcoidosis, susceptibility to, 2} MM: {Schizophrenia, susceptibility to} MM: Bronchiectasis with or without elevated sweat chloride 1 MM: {Schizophrenia, susceptibility to} MM: {Schizophrenia, susceptibility to} MM: {Schizophrenia, susceptibility to} MM: {Scoliosis, idiopathic 3} MM: {Seasonal affective disorder, susceptibility to} MM: Bronchiectasis with or without elevated sweat chloride 2 MM: {Spermatogenic failure, susceptibility to} MM: {Spina bifida, folate-sensitive, susceptibility to} MM: {Spina bifida, susceptibility to} MM: {Spinal muscular atrophy, type III, modifier of} MM: {Systemic lupus erythematosus, association with} MM: Brooke-Spiegler syndrome MM: {Systemic lupus erythematosus, susceptibility to, 10} MM: {Systemic lupus erythematosus, susceptibility to, 9} MM: {Systemic lupus erythematosus, susceptibility to} MM: {Systemic lupus erythematosus, susceptibility to} MM: {Thrombophilia, susceptibility to, due to factor V Leiden} MM: Bruck syndrome 2 MM: {Thyroid carcinoma, follicular, somatic} MM: {Thyrotoxic periodic paralysis, susceptibility to, 1} MM: {Transcription of plasminogen activator inhibitor, modulator of} MM: {Tuberculosis, susceptibility to} MM: {UV-induced skin damage} MM: {Unipolar depression, susceptibility to} MM: Brugada syndrome 1 MM: {Venoocclusive disease after bone marrow transplantation} MM: {Venous thrombosis, susceptibility to} MM: {Viral infections, recurrent} MM: {Vitiligo-associated multiple autoimmune disease susceptibility 1} MM: {Warfarin sensitivity} MM: Brugada syndrome 2 MM: {Wilms tumor susceptibility-5} MM: Achromatopsia-4 MM: Brugada syndrome 6 MM: Brugada syndrome 7 MM: Brunner syndrome MM: Burkitt lymphoma MM: C syndrome MM: C1q deficiency MM: C1s deficiency MM: Acid-labile subunit, deficiency of MM: C3 deficiency MM: C5 deficiency MM: C8 deficiency, type II MM: C9 deficiency MM: CAP myopathy MM: CARASIL syndrome MM: CHARGE syndrome MM: CHARGE syndrome MM: CHILD syndrome MM: CINCA syndrome MM: CLOVE syndrome, somatic MM: COACH syndrome MM: COACH syndrome MM: COACH syndrome MM: Acrodermatitis enteropathica MM: CPT II deficiency, lethal neonatal MM: CPT deficiency, hepatic, type IA MM: CPT deficiency, hepatic, type II MM: CRASH syndrome MM: Caffey disease MM: Campomelic dysplasia with autosomal sex reversal MM: Campomelic dysplasia MM: Camurati-Engelmann disease MM: Canavan disease MM: Candidiasis, familial, 2, autosomal recessive, 212050 (3) 212050 MM: Candidiasis, familial, 4, autosomal dominant MM: Carbamoylphosphate synthetase I deficiency MM: Carboxylesterase 1 deficiency MM: Carboxypeptidase N deficiency MM: Carcinoid tumors, intestinal MM: Cardiac arrhythmia, ankyrin-B-related MM: Cardiac conduction defect, nonspecific MM: Cardiac valvular dysplasia, X-linked MM: Acromegaly MM: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MM: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MM: Cardiofaciocutaneous syndrome 2 MM: Cardiofaciocutaneous syndrome 3 MM: Cardiofaciocutaneous syndrome 4 MM: Cardiomyopathy, dilated 1C MM: Cardiomyopathy, dilated, 1A MM: Cardiomyopathy, dilated, 1AA MM: Cardiomyopathy, dilated, 1D MM: Cardiomyopathy, dilated, 1E MM: Cardiomyopathy, dilated, 1FF MM: Cardiomyopathy, dilated, 1L MM: Cardiomyopathy, dilated, 1M MM: Cardiomyopathy, dilated, 1N MM: Cardiomyopathy, dilated, 1O MM: 3-beta-hydroxysteroid dehydrogenase, type II, deficiency MM: Acromesomelic dysplasia, Maroteaux type MM: Cardiomyopathy, dilated, 1P MM: Cardiomyopathy, dilated, 1S MM: Cardiomyopathy, dilated, 1T MM: Cardiomyopathy, dilated, 1V MM: Cardiomyopathy, dilated, 1W MM: Cardiomyopathy, dilated, 1X MM: Cardiomyopathy, dilated, 1Y MM: Cardiomyopathy, dilated, 1Z MM: Cardiomyopathy, dilated, 2A MM: Cardiomyopathy, familial hypertrophic 6 MM: Cardiomyopathy, familial hypertrophic, 1 MM: Cardiomyopathy, familial hypertrophic, 10 MM: Cardiomyopathy, familial hypertrophic, 12 MM: Cardiomyopathy, familial hypertrophic, 13 MM: Cardiomyopathy, familial hypertrophic, 15 MM: Cardiomyopathy, familial hypertrophic, 18 MM: Cardiomyopathy, familial hypertrophic MM: Acyl-CoA dehydrogenase, medium chain, deficiency of MM: Cardiomyopathy, familial hypertrophic, 2 MM: Cardiomyopathy, familial hypertrophic, 3 MM: Cardiomyopathy, familial hypertrophic, 4 MM: Cardiomyopathy, familial hypertrophic, 7 MM: Cardiomyopathy, familial hypertrophic, 8 MM: Cardiomyopathy, familial restrictive MM: Cardiomyopathy, familial restrictive, 3 MM: Cardiomyopathy, hypertrophic, midventricular, digenic MM: Carney complex variant MM: Carnitine deficiency, systemic primary MM: Acyl-CoA dehydrogenase, short-chain, deficiency of MM: Carnitine-acylcarnitine translocase deficiency MM: Carotid intimal medial thickness 1 MM: Carpal tunnel syndrome, familial MM: Carpenter syndrome MM: Cataract 1, multiple types MM: Cataract 11, multiple types MM: Cataract 12, multiple types MM: Cataract 2, multiple types MM: Cataract 3, multiple types MM: Adenine phosphoribosyltransferase deficiency MM: Cataract 4, multiple types MM: Cataract 5, multiple types MM: Cataract 6, multiple types MM: Cataract 9, multiple types MM: Cataract with late-onset corneal dystrophy MM: Cataract, congenital nuclear, 2 MM: Cataract, congenital nuclear, autosomal recessive 3 MM: Cataract, juvenile, with microcornea and glucosuria MM: Cataract, lamellar 2 MM: Cataract, posterior polar, 3 MM: Cataract, progressive polymorphic cortical MM: Cataract, pulverulent MM: Caudal regression syndrome MM: Central core disease MM: Central hypoventilation syndrome MM: Central hypoventilation syndrome, congenital MM: Central hypoventilation syndrome, congenital MM: Central hypoventilation syndrome, congenital MM: Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MM: Cerebral amyloid angiopathy MM: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants MM: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MM: Cerebral palsy, spastic quadriplegic, 1 MM: Cerebrooculofacioskeletal syndrome 1 MM: Cerebrooculofacioskeletal syndrome 3 MM: Cerebrotendinous xanthomatosis MM: Adenocarcinoma of lung, somatic MM: Ceroid lipofuscinosis, neuronal, 2 MM: Ceroid lipofuscinosis, neuronal, 3 MM: Ceroid lipofuscinosis, neuronal, 5 MM: Ceroid lipofuscinosis, neuronal, 6 MM: Ceroid lipofuscinosis, neuronal, 7 MM: Ceroid lipofuscinosis, neuronal, 8 MM: Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant MM: Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MM: Chanarin-Dorfman syndrome MM: Char syndrome MM: Charcot-Marie-Tooth disease, X-linked recessive, 5 MM: Charcot-Marie-Tooth disease, axonal, type 2F MM: Charcot-Marie-Tooth disease, axonal, type 2K MM: Charcot-Marie-Tooth disease, axonal, type 2M MM: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis MM: Charcot-Marie-Tooth disease, dominant intermediate B MM: Adenocarcinoma, colonic, somatic MM: Charcot-Marie-Tooth disease, dominant intermediate C MM: Charcot-Marie-Tooth disease, recessive intermediate, A MM: Charcot-Marie-Tooth disease, type 1A MM: Charcot-Marie-Tooth disease, type 1C MM: Charcot-Marie-Tooth disease, type 1D MM: Charcot-Marie-Tooth disease, type 1E MM: Charcot-Marie-Tooth disease, type 1F MM: Charcot-Marie-Tooth disease, type 2A1 MM: Charcot-Marie-Tooth disease, type 2A2 MM: 3-hydroxyisobutryl-CoA hydrolase deficiency MM: Charcot-Marie-Tooth disease, type 2B MM: Charcot-Marie-Tooth disease, type 2B1 MM: Charcot-Marie-Tooth disease, type 2E MM: Charcot-Marie-Tooth disease, type 4A MM: Charcot-Marie-Tooth disease, type 4B1 MM: Charcot-Marie-Tooth disease, type 4B2 MM: Charcot-Marie-Tooth disease, type 4C MM: Charcot-Marie-Tooth disease, type 4D MM: Charcot-Marie-Tooth disease, type 4F MM: Charcot-Marie-Tooth disease, type 4H MM: Charcot-Marie-Tooth disease, type 4J MM: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MM: Chediak-Higashi syndrome MM: Cherubism MM: Chilblain lupus MM: Cholestasis, benign recurrent intrahepatic, 2 MM: Cholestasis, benign recurrent intrahepatic MM: Cholestasis, intrahepatic, of pregnancy, 1 MM: Cholestasis, intrahepatic, of pregnancy, 3 MM: Cholestasis, progressive familial intrahepatic 1 MM: Cholestasis, progressive familial intrahepatic 2 MM: Cholestasis, progressive familial intrahepatic 3 MM: Cholesteryl ester storage disease MM: Chondrocalcinosis 2 MM: Chondrodysplasia punctata, rhizomelic, type 2 MM: Chondrodysplasia, Blomstrand type MM: Chondrodysplasia, Grebe type MM: Adenomatous polyposis coli MM: Chorea, hereditary benign MM: Choriodal dystrophy, central areolar 2 MM: Chronic granulomatous disease due to deficiency of NCF-1 MM: Chronic granulomatous disease due to deficiency of NCF-2 MM: Chronic granulomatous disease, autosomal, due to deficiency of CYBA MM: Adenosine deaminase deficiency, partial MM: Chylomicron retention disease MM: Ciliary dyskinesia, primary, 11 MM: Ciliary dyskinesia, primary, 3, with or without situs inversus MM: Ciliary dyskinesia, primary, 6 MM: Ciliary dyskinesia, primary, 7, with or without situs inversus MM: Cirrhosis, cryptogenic MM: Cirrhosis, cryptogenic MM: Citrullinemia MM: Citrullinemia, adult-onset type II MM: Adenosine triphosphate, elevated, of erythrocytes MM: Citrullinemia, type II, neonatal-onset MM: Cleft lip/palate-ectodermal dysplasia syndrome MM: Cleft palate with ankyloglossia MM: Cleidocranial dysplasia MM: Cleidocranial dysplasia, forme fruste, dental anomalies only MM: Cleidocranial dysplasia, forme fruste, with brachydactyly MM: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MM: Cockayne syndrome, type A MM: Cockayne syndrome, type B MM: Coenzyme Q10 deficiency, primary, 1 MM: Coenzyme Q10 deficiency, primary, 2 MM: Coenzyme Q10 deficiency, primary, 3 MM: Coenzyme Q10 deficiency, primary, 4 MM: Coffin-Lowry syndrome MM: Cohen syndrome MM: Cold-induced sweating syndrome 1 MM: Cold-induced sweating syndrome MM: Coloboma of optic nerve MM: Adhalinopathy, primary MM: Coloboma, ocular MM: Colon adenocarcinoma MM: Colon cancer MM: Colon cancer, advanced MM: Colon cancer, hereditary nonpolyposis, type 7 MM: Colon cancer, somatic MM: Colorblindness, deutan MM: Colorblindness, protan MM: Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas MM: Colorectal cancer with chromosomal instability MM: Colorectal cancer, hereditary nonpolyposis, type 1 MM: Colorectal cancer, hereditary nonpolyposis, type 2 MM: Colorectal cancer, hereditary nonpolyposis, type 4 MM: Colorectal cancer, hereditary nonpolyposis, type 5 MM: Colorectal cancer, hereditary nonpolyposis, type 6 MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: Colorectal cancer, somatic MM: 3-methylglutaconic aciduria, type I MM: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency MM: Combined SAP deficiency MM: Combined cellular and humoral immune defects with granulomas MM: Combined cellular and humoral immune defects with granulomas MM: Combined factor V and VIII deficiency MM: Combined hyperlipidemia, familial MM: Combined immunodeficiency, X-linked, moderate MM: Combined oxidative phosphorylation deficiency 1 MM: Combined oxidative phosphorylation deficiency 2 MM: Combined oxidative phosphorylation deficiency 3 MM: Combined oxidative phosphorylation deficiency 4 MM: Combined oxidative phosphorylation deficiency 5 MM: Complement component 4, partial deficiency of MM: Complement factor D deficiency MM: Complement factor H deficiency MM: Complement factor I deficiency MM: Cone dystrophy 4 MM: Cone dystrophy-3 MM: Cone-rod dystrophy 11 MM: Cone-rod dystrophy 13 MM: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MM: Cone-rod dystrophy 14 MM: Cone-rod dystrophy 3 MM: Cone-rod dystrophy 5 MM: Cone-rod dystrophy 6 MM: Cone-rod dystrophy 7 MM: Congenital bilateral absence of vas deferens MM: Congenital cataracts, facial dysmorphism, and neuropathy MM: Adrenocortical insufficiency MM: Congenital disorder of glycosylation, type IIa MM: Congenital disorder of glycosylation, type IIb MM: Congenital disorder of glycosylation, type IIc MM: Congenital disorder of glycosylation, type IIh MM: Congenital disorder of glycosylation, type Ia MM: Congenital disorder of glycosylation, type Ib MM: Congenital disorder of glycosylation, type Ic MM: Congenital disorder of glycosylation, type Id MM: Congenital disorder of glycosylation, type Ie MM: Adrenocorticotropic hormone deficiency MM: Congenital disorder of glycosylation, type If MM: Congenital disorder of glycosylation, type Ig MM: Congenital disorder of glycosylation, type Ih MM: Congenital disorder of glycosylation, type Ij MM: Congenital disorder of glycosylation, type Ik MM: Congenital disorder of glycosylation, type Il MM: Congenital disorder of glycosylation, type In MM: Congenital disorder of glycosylation, type Io MM: Congenital heart defects, nonsyndromic, 1, X-linked MM: Adrenoleukodystrophy MM: Conotruncal anomaly face syndrome MM: Contractural arachnodactyly, congenital MM: Corneal clouding, autosomal recessive MM: Corneal dystrophy polymorphous posterior, 2 MM: Corneal dystrophy, Avellino type MM: Adrenomyeloneuropathy, adult MM: Corneal dystrophy, Fuchs endothelial, 1 MM: Corneal dystrophy, Fuchs endothelial, 4 MM: Corneal dystrophy, Fuchs endothelial, 6 MM: Corneal dystrophy, Groenouw type I MM: Corneal dystrophy, Reis-Bucklers type MM: Corneal dystrophy, Schnyder type MM: Corneal dystrophy, Thiel-Behnke type MM: Corneal dystrophy, congenital stromal MM: Corneal dystrophy, epithelial basement membrane MM: Adult i phenotype with congenital cataract MM: Corneal dystrophy, hereditary polymorphous posterior MM: Corneal dystrophy, lattice type I MM: Corneal dystrophy, lattice type IIIA MM: Corneal dystrophy, posterior polymorphous, 3 MM: Corneal endothelial dystrophy 2, autosomal recessive MM: Corneal endothelial dystrophy and perceptive deafness MM: Cornelia de Lange syndrome 1 MM: Corpus callosum, partial agenesis of MM: Adult i phenotype without cataract MM: Corticosteroid-binding globulin deficiency MM: Cortisol resistance MM: Costello syndrome MM: Cowden syndrome 1 MM: Cowden syndrome 2 MM: Cowden syndrome 3 MM: Advanced sleep phase syndrome, familial, 1 MM: Craniofacial anomalies and anterior segment dysgenesis syndrome MM: Craniofacial-deafness-hand syndrome MM: Craniolenticulosutural dysplasia MM: Craniometaphyseal dysplasia MM: Cranioosteoarthropathy MM: Craniosynostosis, nonspecific MM: 3-methylglutaconic aciduria, type III MM: Advanced sleep-phase syndrome, familial, 2 MM: Creatine deficiency syndrome, X-linked MM: Creatine phosphokinase, elevated serum MM: Creutzfeldt-Jakob disease MM: Crigler-Najjar syndrome, type I MM: Crigler-Najjar syndrome, type II MM: Crouzon syndrome with acanthosis nigricans MM: Crouzon syndrome MM: Cryptorchidism MM: Cryptorchidism MM: Cutis laxa, autosomal dominant 2 MM: Cutis laxa, autosomal recessive, type IA MM: Cutis laxa, autosomal recessive, type IB MM: Cutis laxa, autosomal recessive, type IIA MM: Cutis laxa, autosomal recessive, type IIB MM: Cutis laxa, autosomal recessive, type IIIA MM: Cutis laxa, autosomal recessive, type IIIB MM: Cyanosis, transient neonatal MM: Cylindromatosis, familial MM: Cystathioninuria MM: Afibrinogenemia, congenital MM: Cystic fibrosis MM: Cystinosis, atypical nephropathic MM: Cystinosis, late-onset juvenile or adolescent nephropathic MM: Cystinosis, nephropathic MM: Cystinosis, ocular nonnephropathic MM: Cystinuria MM: Cytochrome c oxidase deficiency MM: D-bifunctional protein deficiency MM: DNA ligase I deficiency MM: Agammaglobulinemia 2 MM: DNA topoisomerase I, camptothecin-resistant MM: Danon disease MM: Darier disease MM: De Sanctis-Cacchione syndrome MM: De la Chapelle dysplasia MM: Deafness, X-linked 2 MM: Deafness, autosomal dominant 11 MM: Deafness, autosomal dominant 15 MM: Deafness, autosomal dominant 17 MM: Deafness, autosomal dominant 20/26 MM: Deafness, autosomal dominant 23 MM: Deafness, autosomal dominant 25 MM: Deafness, autosomal dominant 2A MM: Deafness, autosomal dominant 2B MM: Deafness, autosomal dominant 36 MM: Deafness, autosomal dominant 3A MM: Deafness, autosomal dominant 3B MM: Deafness, autosomal dominant 40 MM: Agammaglobulinemia, X-linked 1 MM: Deafness, autosomal dominant 48 MM: Deafness, autosomal dominant 4A MM: Deafness, autosomal dominant 6/14/38 MM: Deafness, autosomal dominant 8/12 MM: Deafness, autosomal dominant 9 MM: Deafness, autosomal recessive MM: Deafness, autosomal recessive 12 MM: Deafness, autosomal recessive 18A MM: Deafness, autosomal recessive 1A MM: Agenesis of the corpus callosum with peripheral neuropathy MM: Deafness, autosomal recessive 1B MM: Deafness, autosomal recessive 2 MM: Deafness, autosomal recessive 21 MM: Deafness, autosomal recessive 24 MM: Deafness, autosomal recessive 28 MM: Deafness, autosomal recessive 29 MM: Deafness, autosomal recessive 3 MM: Deafness, autosomal recessive 35 MM: Deafness, autosomal recessive 36 MM: Aicardi-Goutieres syndrome 1, dominant and recessive MM: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct MM: Deafness, autosomal recessive 49 MM: Deafness, autosomal recessive 59 MM: Deafness, autosomal recessive 6 MM: Deafness, autosomal recessive 67 MM: Deafness, autosomal recessive 7 MM: Deafness, autosomal recessive 77 MM: Deafness, autosomal recessive 8/10 MM: Deafness, autosomal recessive 9 MM: Deafness, congenital heart defects, and posterior embryotoxon MM: Aicardi-Goutieres syndrome 2 MM: Deafness, digenic GJB2/GJB6 MM: Deafness, digenic, GJB2/GJB3 MM: Deafness, neurosensory, without vestibular involvement, autosomal dominant MM: Dejerine-Sottas disease MM: Dejerine-Sottas disease MM: Dejerine-Sottas disease, autosomal recessive MM: Delta-beta thalassemia MM: Dementia, Lewy body MM: Dementia, Lewy body MM: Dementia, familial British MM: Aicardi-Goutieres syndrome 3 MM: Dementia, familial Danish MM: Dementia, familial, nonspecific MM: Dementia, frontotemporal MM: Dementia, frontotemporal, with or without parkinsonism MM: Denys-Drash syndrome MM: Dermatopathia pigmentosa reticularis MM: Desmoid disease, hereditary MM: Desmosterolosis MM: DiGeorge syndrome MM: Diabetes insipidus, nephrogenic MM: 46XX sex reversal 1 MM: Aicardi-Goutieres syndrome 4 MM: Diabetes insipidus, nephrogenic MM: Diabetes insipidus, neurohypophyseal MM: Diabetes mellitus, gestational MM: Diabetes mellitus, insulin-dependent, 2 MM: Diabetes mellitus, insulin-dependent, 20 MM: Diabetes mellitus, ketosis-prone MM: Diabetes mellitus, noninsulin-dependent MM: Diabetes mellitus, noninsulin-dependent MM: Diabetes mellitus, noninsulin-dependent, late onset MM: Aicardi-Goutieres syndrome 5 MM: Diabetes mellitus, permanent neonatal MM: Diabetes mellitus, permanent neonatal MM: Diabetes mellitus, permanent neonatal MM: Diabetes mellitus, permanent neonatal, with cerebellar agenesis MM: Diabetes mellitus, permanent neonatal, with neurologic features MM: Diabetes mellitus, transient neonatal 2 MM: Diabetes mellitus, transient neonatal, 1 MM: Diabetes mellitus, transient neonatal, 3 MM: Diabetes mellitus, type 1 MM: Diabetes mellitus, type 2 MM: Diabetes mellitus, type II MM: Diabetes, permanent neonatal MM: Diamond-Blackfan anemia 1 MM: Diamond-Blackfan anemia 4 MM: Diamond-Blackfan anemia 5 MM: Diamond-Blackfan anemia 6 MM: Diamond-Blackfan anemia 7 MM: Diamond-Blackfan anemia 8 MM: Diamond-blackfan anemia 3 MM: Diaphragmatic hernia 3 MM: Alagille syndrome 2 MM: Diarrhea 3, secretory sodium, congenital, syndromic MM: Diastrophic dysplasia MM: Diastrophic dysplasia, broad bone-platyspondylic variant MM: Digital clubbing, isolated congenital MM: Dihydrolipoamide dehydrogenase deficiency MM: Dihydropyrimidine dehydrogenase deficiency MM: Dihydropyrimidinuria MM: Dimethylglycine dehydrogenase deficiency MM: Alagille syndrome MM: Diphenylhydantoin toxicity MM: Disordered steroidogenesis due to cytochrome P450 oxidoreductase MM: Donnai-Barrow syndrome MM: Dopamine beta-hydroxylase deficiency MM: Dopamine receptor D2, reduced brain density of MM: Double-outlet right ventricle MM: Dowling-Degos disease MM: Doyne honeycomb degeneration of retina MM: Dravet syndrome MM: Albinism, brown oculocutaneous MM: Duane-radial ray syndrome MM: Dubin-Johnson syndrome MM: Duchenne muscular dystrophy MM: Dursun syndrome MM: Dyggve-Melchior-Clausen disease MM: Dysautonomia, familial MM: Dysfibrinogenemia, alpha type, causing bleeding diathesis MM: Dysfibrinogenemia, alpha type, causing recurrent thrombosis MM: Albinism, oculocutaneous, type IA MM: Dysfibrinogenemia, beta type MM: Dysfibrinogenemia, gamma type MM: Dyskeratosis congenita, X-linked MM: Dyskeratosis congenita, autosomal dominant 3 MM: Dyskeratosis congenita, autosomal recessive 1 MM: Dyskeratosis congenita, autosomal recessive 2 MM: Dysprothrombinemia MM: Dystonia 16 MM: Dystonia 6, torsion MM: Albinism, oculocutaneous, type IB MM: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia MM: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MM: Dystonia, early-onset atypical, with myoclonic features MM: Dystonia, juvenile-onset MM: Dystonia-1, torsion MM: Dystonia-11, myoclonic MM: Dystonia-12 MM: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MM: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MM: Albinism, oculocutaneous, type II MM: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type MM: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MM: Ectodermal dysplasia 2, Clouston type MM: Ectodermal dysplasia 4, hair/nail type MM: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency MM: Ectodermal dysplasia, ectrodactyly, and macular dystrophy MM: Ectodermal dysplasia/skin fragility syndrome MM: Ectopia lentis, isolated, autosomal recessive MM: Albinism, oculocutaneous, type III MM: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MM: Ehlers-Danlos syndrome, cardiac valvular form MM: Ehlers-Danlos syndrome, musculocontractural type MM: Ehlers-Danlos syndrome, progeroid form MM: Ehlers-Danlos syndrome, type I MM: Ehlers-Danlos syndrome, type I MM: Ehlers-Danlos syndrome, type II MM: Ehlers-Danlos syndrome, type III MM: Ehlers-Danlos syndrome, type IV MM: Ehlers-Danlos syndrome, type VIIA MM: 46XY partial gonadal dysgenesis, with minifascicular neuropathy MM: Ehlers-Danlos syndrome, type VIIB MM: Eiken syndrome MM: Elliptocytosis-1 MM: Elliptocytosis-2 MM: Elliptocytosis-3 MM: Ellis-van Creveld syndrome MM: Emery-Dreifuss muscular dystrophy 1, X-linked MM: Emery-Dreifuss muscular dystrophy 2, AD MM: Emery-Dreifuss muscular dystrophy 3, AR MM: Emery-Dreifuss muscular dystrophy 4, autosomal dominant MM: Emery-Dreifuss muscular dystrophy 5, autosomal dominant MM: Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission MM: Encephalopathy, familial, with neuroserpin inclusion bodies MM: Encephalopathy, neonatal severe MM: Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency MM: Endometrial cancer MM: Endometrial carcinoma, somatic MM: Endotoxin hyporesponsiveness MM: Endplate acetylcholinesterase deficiency MM: Enhanced S-cone syndrome MM: Enlarged vestibular aqueduct MM: Enterokinase deficiency MM: Eosinophil peroxidase deficiency MM: Alexander disease MM: Epidermodysplasia verruciformis MM: Epidermodysplasia verruciformis MM: Epidermolysis bullosa of hands and feet MM: Epidermolysis bullosa simplex with migratory circinate erythema MM: Epidermolysis bullosa simplex with mottled pigmentation MM: Epidermolysis bullosa simplex, Dowling-Meara type MM: Epidermolysis bullosa simplex, Dowling-Meara type MM: Epidermolysis bullosa simplex, Koebner type MM: Epidermolysis bullosa simplex, Koebner type MM: Alkaptonuria MM: Epidermolysis bullosa simplex, Ogna type MM: Epidermolysis bullosa simplex, Weber-Cockayne type MM: Epidermolysis bullosa simplex, Weber-Cockayne type MM: Epidermolysis bullosa simplex, recessive MM: Epidermolysis bullosa, junctional, Herlitz type MM: Epidermolysis bullosa, junctional, Herlitz type MM: Epidermolysis bullosa, junctional, non-Herlitz type MM: Epidermolysis bullosa, junctional, non-Herlitz type MM: Epidermolysis bullosa, junctional, non-Herlitz type MM: Epidermolysis bullosa, junctional, with pyloric atresia MM: Allan-Herndon-Dudley syndrome MM: Epidermolytic hyperkeratosis MM: Epidermolytic hyperkeratosis MM: Epilepsy, familial temporal lobe, 1 MM: Epilepsy, generalized, with febrile seizures plus, type 2 MM: Epilepsy, generalized, with febrile seizures plus, type 7 MM: Epilepsy, nocturnal frontal lobe, 1 MM: Epilepsy, nocturnal frontal lobe, 3 MM: Epilepsy, nocturnal frontal lobe, type 4 MM: Epilepsy, progressive myoclonic 1B MM: Epilepsy, progressive myoclonic 2A (Lafora) MM: Epilepsy, progressive myoclonic 2B (Lafora) MM: Epilepsy, progressive myoclonic 4, with or without renal failure MM: Epileptic encephalopathy, early infantile, 1 MM: Alopecia, neurologic defects, and endocrinopathy syndrome MM: Epileptic encephalopathy, early infantile, 7 MM: Epiphyseal dysplasia, multiple 1 MM: Epiphyseal dysplasia, multiple, 4 MM: Epiphyseal dysplasia, multiple, 5 MM: Episodic ataxia, type 2 MM: Episodic ataxia/myokymia syndrome MM: Erythermalgia, primary MM: Erythrocytosis, familial, 2 MM: Erythrocytosis, familial, 3 MM: Erythrokeratodermia variabilis et progressiva MM: Esophageal cancer, somatic MM: Esophageal squamous cell carcinoma MM: Esophageal squamous cell carcinoma MM: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis MM: Exostoses, multiple, type 1 MM: Exostoses, multiple, type 2