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Disease	Synonyms	Description	Articles
scalp-ear-nipple syndrome	hereditary syndrome of lumpy scalp, odd ears and r.. [+] hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Finlay-Marks syndrome; Sen Syndrome; SENS [-]	An ectodermal dysplasia characterized by cutis apl..[+] An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. [-]
retinal vasculopathy with cerebral leukodystrophy	hereditary cerebroretinal vasculopathy; CRV; retin.. [+] hereditary cerebroretinal vasculopathy; CRV; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL-S; RVCL; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena [-]	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. [-]
familial woolly hair syndrome	hereditary wooly hair syndrome; hereditary woolly .. [+] hereditary wooly hair syndrome; hereditary woolly hair syndrome; woolly hair; wooly hair; familial wooly hair syndrome [-]	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. [-]
dehydrated hereditary stomatocytosis	hereditary desiccytosis; hereditary xerocytosis	A hemolytic anemia characterized by altered intrac..[+] A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. [-]
Greenberg dysplasia	hydrops, ectopic calcification, moth-eaten skeleta.. [+] hydrops, ectopic calcification, moth-eaten skeletal dysplasia; hydrops-ectopic calcification-motheaten syndrome; HEM dysplasia; autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; Skeletal dysplasia, Greenberg type [-]	An inherited metabolic disorder characterized by a..[+] An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. [-]
Cohen syndrome	Hypotonia, obesity, and prominent incisors; COH1; .. [+] Hypotonia, obesity, and prominent incisors; COH1; Pepper syndrome [-]	A syndrome characterized by facial dysmorphism, mi..[+] A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. [-]
congenital heart defects, hamartomas of tongue, and polysyndactyly	heart defect-tongue hamartoma-polysyndactyly syndr.. [+] heart defect-tongue hamartoma-polysyndactyly syndrome; Ostravik-Lindemann-Solberg syndrome; CHDTHP [-]	A syndrome characterized by congenital heart defec..[+] A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. [-]
plasminogen deficiency type I	hypoplasminogenemia	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. [-]
distal arthrogryposis type 7	Hecht syndrome; Hecht-Beals syndrome; DA7; Dutch-K.. [+] Hecht-Beals syndrome; Hecht syndrome; DA7; Dutch-Kentucky syndrome; mouth, inability to completely open, and short finger-flexor tendons; trismus-pseudocamptodactyly syndrome [-]	A distal arthrogryposis characterized by inability..[+] A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. [-]
corneal dystrophy-perceptive deafness syndrome	Harboyan syndrome; CDPD; CDPD1; corneal dystrophy .. [+] Harboyan syndrome; CDPD; CDPD1; corneal dystrophy and perceptive deafness; corneal endothelial dystrophy and perceptive deafness; corneal dystrophy with progressive deafness [-]	A syndrome characterized by congenital corneal end..[+] A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. [-]
familial erythrocytosis 8	hemolytic anemia due to diphosphoglycerate mutase .. [+] hemolytic anemia due to diphosphoglycerate mutase deficiency; bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; ECYT8; DPGM deficiency [-]	A primary polycythemia characterized by erythrocyt..[+] A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. [-]
ectodermal dysplasia 1	HED1; hypohidrotic ectodermal dysplasia, X-Linked; .. [+] hypohidrotic ectodermal dysplasia, X-Linked; HED1; CST syndrome; ectodermal dysplasia 1, anhidrotic; ED1; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; Christ-Siemens-Touraine syndrome; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	hydranencephaly, Fowler type; hydrocephaly/hydrane.. [+] hydranencephaly, Fowler type; hydrocephaly/hydranencephaly due to cerebral vasculopathy; cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; Fowler syndrome; Fowler vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH [-]	A syndrome characterized by hydranencephaly, glome..[+] A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. [-]
primary hyperoxaluria type 1	hepatic AGT deficiency; HP1; alanine-glyoxylate am.. [+] HP1; hepatic AGT deficiency; alanine-glyoxylate aminotransferase deficiency; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; glycolic aciduria; serine pyruvate aminotransferase deficiency [-]	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. [-]
primary hyperoxaluria type 2	HP2; oxalosis IIglyoxylate reductase/hydroxypyruva.. [+] HP2; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
primary hyperoxaluria type 3	HP3; PH III; primary hyperoxaluria type III	A primary hyperoxaluria characterized by recurring..[+] A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. [-]
essential fructosuria	hepatic fructokinase deficiency; fructokinase defi.. [+] hepatic fructokinase deficiency; fructokinase deficiency; ketohexokinase deficiency [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. [-]
glutamate-cysteine ligase deficiency	hemolytic anemia due to gamma-glutamylcysteine syn.. [+] hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; gamma-glutamylcysteine synthetase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. [-]
familial hypertryptophanemia	HYPTRP	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. [-]
amelogenesis imperfecta type 3	hypocalcified amelogenesis imperfecta; AI3	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. [-]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HDCA; congenital heart defects and other congenita.. [+] HDCA; congenital heart defects and other congenital anomalies; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; PACHD; pancreatic agenesis and congenital heart defects; Yorifuji-Okuno syndrome [-]	A syndrome characterized by partial pancreatic age..[+] A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. [-]	1 articles
syndactyly type 4	Haas type syndactyly; polysyndactyly, Haas type; S.. [+] Haas type syndactyly; polysyndactyly, Haas type; SDTY4 [-]	A syndactyly characterized by complete bilateral s..[+] A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
thrombophilia due to HRG deficiency	hereditary thrombophilia due to congenital HRG def.. [+] hereditary thrombophilia due to congenital HRG deficiency; hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency; THPH11 [-]	A thrombophilia characterized by decreased histidi..[+] A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. [-]
immunodeficiency 43	hypercatabolic hypoproteinemia; B2M deficiency; be.. [+] hypercatabolic hypoproteinemia; B2M deficiency; beta-2-microglobulin deficiency; IMD43 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. [-]
urocanase deficiency	high urine urocanic acid levels; encephalopathy du.. [+] high urine urocanic acid levels; encephalopathy due to urocanase deficiency; urocanate hydratase deficiency; urocanic aciduria; UROCD [-]	A histidine metabolism disease characterized by ur..[+] A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. [-]
BH4-deficient hyperphenylalaninemia B	HPABH4B; GTP cyclohydrolase 1 deficiency; tetrahyd.. [+] HPABH4B; GTP cyclohydrolase 1 deficiency; tetrahydrobiopterin-deficient hyperphenylalaninemia B [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. [-]
N-acetylglutamate synthase deficiency	hyperammonemia due to N-acetylglutamate synthase d.. [+] hyperammonemia due to N-acetylglutamate synthase deficiency; N-acetyl glutamate synthetase deficiency; N-acetylglutamate synthetase deficiency; NAG synthetase deficiency; NAGS deficiency [-]	A urea cycle disorder characterized by accumulatio..[+] A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. [-]
Woodhouse-Sakati syndrome	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 [-]	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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