| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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isolated hyperchlorhidrosis
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HYCHL; carbonic anhydrase XII deficiency
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A skin disease characterized by excessive loss of .. [+]A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
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mucopolysaccharidosis type IIIC
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HGSNAT deficiency; Heparan-alpha-glucosaminide N-a..
[+]
HGSNAT deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C); Sanfilippo syndrome type C
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A mucopolysaccharidosis III that has_material_basi.. [+]A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
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essential tremor 2
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hereditary essential tremor 2; ETM2
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An essential tremor that has_material_basis_in het.. [+]An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.
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combined oxidative phosphorylation deficiency 5
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hypotonia with lactic acidemia and hyperammonemia; ..
[+]
hypotonia with lactic acidemia and hyperammonemia; COXPD5
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A combined oxidative phosphorylation deficiency ch.. [+]A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.
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multicentric carpotarsal osteolysis syndrome
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hereditary osteolysis of carpal bones with or with..
[+]
hereditary osteolysis of carpal bones with or without nephropathy; autosomal dominant multicentric osteolysis; idiopathic multicentric osteolysis with or without nephropathy; MCTO; multicentric carpo-tarsal osteolysis with or without nephropathy; multicentric osteolysis nephropathy
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A syndrome characterized by progressive loss of bo.. [+]A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
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prolidase deficiency
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hyperimidodipeptiduria; imidodipeptidase deficienc..
[+]
hyperimidodipeptiduria; imidodipeptidase deficiency; peptidase deficiency
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
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retinal vasculopathy with cerebral leukodystrophy
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hereditary cerebroretinal vasculopathy; CRV; retin..
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hereditary cerebroretinal vasculopathy; CRV; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; RVCL-S
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A vascular disease characterized by adult onset of.. [+]A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.
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familial woolly hair syndrome
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hereditary wooly hair syndrome; hereditary woolly ..
[+]
hereditary wooly hair syndrome; hereditary woolly hair syndrome; familial wooly hair syndrome; woolly hair; wooly hair
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A hair disease characterized by fine and tightly c.. [+]A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.
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plasminogen deficiency type I
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hypoplasminogenemia
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A syndrome characterized by decreased serum plasmi.. [+]A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
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primary hyperoxaluria type 1
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hepatic AGT deficiency; HP1; alanine-glyoxylate am..
[+]
HP1; hepatic AGT deficiency; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine pyruvate aminotransferase deficiency
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A primary hyperoxaluria characterized by failure t.. [+]A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
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familial hypertryptophanemia
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HYPTRP
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1.
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amelogenesis imperfecta type 3
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hypocalcified amelogenesis imperfecta; AI3
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An amelogenesis imperfecta characterized by soft e.. [+]An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.
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Woodhouse-Sakati syndrome
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hypogonadism, alopecia, diabetes mellitus, mental ..
[+]
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia
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A syndrome characterized by hypogonadism, alopecia.. [+]A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.
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