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Disease	Synonyms	Description	Articles	Phenotypes
congenital adrenal hyperplasia	adrenal hyperplasia 1; congenital lipoid adrenal h.. [+] adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia; lipoid CAH [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [-]
pancreatic agenesis	Agenesis of the dorsal pancreas; partial pancreati.. [+] Agenesis of the dorsal pancreas; partial pancreatic agenesis [-]	A pancreas disease that is characterized by the fa..[+] A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. [-]	1 articles
Troyer syndrome	autosomal recessive spastic paraplegia type 20; au.. [+] autosomal recessive spastic paraplegia type 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
synucleinopathy	alpha Synucleinopathies; Synucleinopathies	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [-]	15 articles
spinocerebellar ataxia type 27	autosomal dominant congenital nystagmus 4; congeni.. [+] autosomal dominant congenital nystagmus 4; congenital nystagmus 4; vestibulocerebellar disorder with predominant ocular signs [-]	An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. [-]
reticular dysgenesis	aleukocytosis; De Vaal disease	A severe combined immunodeficiency that is the mos..[+] A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [-]
gluten allergy	allergy to gluten; gluten allergic reaction	A food allergy that develops from an immune reacti..[+] A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. [-]
pain agnosia	analgesia	An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive and process pain. [-]	2 articles
frontotemporal dementia and/or amyotrophic lateral sclerosis 6	amyotrophic lateral sclerosis type 14; amyotrophic.. [+] amyotrophic lateral sclerosis type 14; amyotrophic lateral sclerosis, with or without frontotemporal dementia; amyotrophic lateral sclerosis 14; ALS14 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	ALSFTD; amyotrophic lateral sclerosis and/or front.. [+] ALSFTD; amyotrophic lateral sclerosis and/or frontotemporal dementia; frontotemporal dementia and/or amyotrophic lateral sclerosis 1; frontotemporal dementia and/or motor neuron disease; FTDMND; FTDALS1 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
Carpenter syndrome	acrocephalopolysyndactyly type II	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
Mast syndrome	autosomal recessive spastic paraplegia type 21; au.. [+] autosomal recessive spastic paraplegia type 21; autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; SPG21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
Robinow syndrome	acral dysostosis with facial and genital abnormali.. [+] acral dysostosis with facial and genital abnormalities; Robinow dwarfism; fetal face syndrome [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]	1 articles
rippling muscle disease 2	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1C [-]	A muscle tissue disease characterized by mechanica..[+] A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. [-]
megalocornea	anterior megalophthalmos; congenital anterior mega.. [+] anterior megalophthalmos; congenital anterior megalophthalmia [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]	1 articles
uvulitis	acute uvulitis	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. [-]
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/pal.. [+] anhidrotic ectodermal dysplasia with cleft lip/palate; ectodermal dysplasia syndrome, Rapp-Hodgkin type; RHS; ectodermal dysplasia, Rapp-Hodgkin type [-]	An ectodermal dysplasia characterized by abnormal ..[+] An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
chylomicron retention disease	Anderson disease; CMRD	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
Sakati-Nyhan syndrome	acrocephalopolysyndactyly Type III; acrocephalopol.. [+] acrocephalopolysyndactyly Type III; acrocephalopolysyndactyly type 3; ACPS with leg hypoplasia; Sakati-Nyhan-Tisdale syndrome [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
punctate palmoplantar keratoderma type III	acrokeratoelastoidosis of Costa; punctate palmopla.. [+] acrokeratoelastoidosis of Costa; punctate palmoplantar keratoderma type 3; punctate palmoplantar hyperkeratosis type 3 [-]	A punctate palmoplantar keratoderma that is charac..[+] A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. [-]
Galloway-Mowat syndrome 1	autosomal recessive spinocerebellar ataxia 5; Gall.. [+] autosomal recessive spinocerebellar ataxia 5; Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; microcephaly, hiatal hernia and nephrotic syndrome; SCAR5 [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
Parkinson's disease 6	autosomal recessive early-onset Parkinson's diseas.. [+] autosomal recessive early-onset Parkinson's disease 6; autosomal recessive early-onset Parkinson disease 6; early-onset Parkinson disease 6; PARK6 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
granular corneal dystrophy 2	avellino corneal dystrophy; CGD2; corneal dystroph.. [+] avellino corneal dystrophy; CGD2; corneal dystrophy, Avellino type; granular corneal dystrophy type 2; combined granular-lattice corneal dystrophy [-]	An corneal granular dystrophy that is characterize..[+] An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. [-]
Reis-Bucklers corneal dystrophy	anterior limiting membrane dystrophy type I; granu.. [+] anterior limiting membrane dystrophy type I; granular corneal dystrophy type III; RBCD; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Thiel-Behnke corneal dystrophy	anterior limiting membrane dystrophy type II; corn.. [+] anterior limiting membrane dystrophy type II; corneal dystrophy honeycomb-shaped; Waardenburg-Jonker corneal dystrophy; corneal dystrophy of Bowman layer type II; TBCD [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Holt-Oram syndrome	atrio-digital syndrome; atriodigital dysplasia; he.. [+] atriodigital dysplasia; atrio-digital syndrome; heart-hand syndrome [-]	A syndrome characterized by congenital anomalies l..[+] A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. [-]	6 articles
familial erythrocytosis 2	autosomal recessive benign erythrocytosis; Chuvash.. [+] autosomal recessive benign erythrocytosis; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; Chuvash polycythemia; ECYT2 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
respiratory allergy	airway allergy	An allergic disease that is located_in the respira..[+] An allergic disease that is located_in the respiratory tract. [-]	1 articles	3 matches
Kufor-Rakeb syndrome	autosomal recessive juvenile onset Parkinson disea.. [+] autosomal recessive juvenile onset Parkinson disease 9; autosomal recessive Parkinson disease 9 [-]	An early-onset Parkinson's disease that is charact..[+] An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. [-]
B-cell adult acute lymphocytic leukemia	adult b-cell lymphocytic leukemia; adult B-lymphob.. [+] adult b-cell lymphocytic leukemia; adult B-lymphoblastic leukaemia; adult b-cell lymphocytic leukaemia; adult b-cell acute lymphoblastic leukaemia; adult B acute lymphoblastic leukaemia; adult B-lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult B acute lymphoblastic leukemia; B-cell adult acute lymphocytic leukaemia [-]	An adult acute lymphoblastic leukemia occurring in..[+] An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. [-]
recessive dystrophic epidermolysis bullosa	autosomal recessive dystrophic epidermolysis bullo.. [+] autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; RDEB, Hallopeau-Siemens type; severe generalized RDEB; severe generalized recessive dystrophic epidermolysis bullosa [-]	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. [-]
familial erythrocytosis 1	autosomal dominant benign erythrocytosis; primary .. [+] autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia; ECYT1 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
catecholaminergic polymorphic ventricular tachycardia 1	arrhythmogenic right ventricular dysplasia 2; CVPT.. [+] arrhythmogenic right ventricular dysplasia 2; CVPT1 [-]	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. [-]
platelet-type bleeding disorder 16	autosomal dominant thrombasthenia of Glanzmann and.. [+] autosomal dominant thrombasthenia of Glanzmann and Naegeli; autosomal dominant Glanzmann thrombasthenia [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. [-]
platelet-type bleeding disorder 8	ADP platelet receptor P2Y12 defect; P2Y12 defect	A blood platelet disease characterized by mild to ..[+] A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. [-]
chromosome 9p deletion syndrome	Alfi syndrome; 9p syndrome; monosomy 9p syndrome	A chromosomal deletion syndrome characterized by t..[+] A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. [-]
Duane-radial ray syndrome	acrorenocular syndrome; DR syndrome; Okihiro syndr.. [+] acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane anomaly with radial ray abnormalities and deafness [-]	A syndrome characterized by upper limb anomalies, ..[+] A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]
immunodeficiency with hyper-IgM type 2	AID deficiency; activation-induced cytidine deamin.. [+] AID deficiency; activation-induced cytidine deaminase deficiency; hyper-IgM syndrome type 2; HIGM2 [-]	A hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. [-]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	alymphoid cystic thymic dysgenesis; winged helix d.. [+] alymphoid cystic thymic dysgenesis; winged helix deficiency; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. [-]
hypomyelinating leukodystrophy 7	ataxia-delayed dentition-hypomyelination syndrome; .. [+] ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; dentoleukoencephalopathy; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
Norrie disease	atrophia bulborum hereditaria; Norrie-Warburg dise.. [+] atrophia bulborum hereditaria; Norrie-Warburg disease; Episkopi blindness [-]	A syndrome characterized by degenerative and proli..[+] A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]	1 articles
right atrial isomerism	asplenia with cardiovascular anomalies; Ivemark sy.. [+] asplenia with cardiovascular anomalies; Ivemark syndrome [-]	A visceral heterotaxy characterized by complete at..[+] A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
microphthalmia with limb anomalies	anophthalmia-syndactyly syndrome; OAS; ophthalmoac.. [+] anophthalmia-syndactyly syndrome; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome; MLA [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
late-onset retinal degeneration	autosomal dominant late-onset retinal degeneration.. [+] autosomal dominant late-onset retinal degeneration; LORD [-]	A retinal degeneration characterized by autosomal ..[+] A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. [-]
isolated growth hormone deficiency type II	autosomal dominant pituitary dwarfism due to isola.. [+] autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; autosomal dominant isolated growth hormone deficiency; congenital IGHD type II; congenital isolated growth hormone deficiency type II; congenital isolated GH deficiency type II; IGHD II [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. [-]
isolated growth hormone deficiency type IA	autosomal recessive isolated growth hormone defici.. [+] autosomal recessive isolated growth hormone deficiency; IGHD IA; Illig-type growth hormone deficiency; primordial dwarfism; sexual ateleiotic dwarfism; pituitary dwarfism I [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. [-]
renal hypomagnesemia 2	autosomal dominant primary hypomagnesemia with hyp.. [+] autosomal dominant primary hypomagnesemia with hypocalciuria; HOMG2 [-]	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. [-]
prune belly syndrome	abdominal muscle deficiency syndrome; Eagle-Barret.. [+] abdominal muscle deficiency syndrome; Eagle-Barret syndrome; Obrisnksy syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Parkinson disease 17	autosomal dominant Parkinson disease 17	A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. [-]
dystonia, DOPA-responsive	Autosomal dominant Segawa syndrome; DOPA-RESPONSIV.. [+] Autosomal dominant Segawa syndrome; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; GTPCH1-deficient dopa-responsive dystonia; GTPCH1-deficient DRD; Hereditary progressive dystonia with marked diurnal fluctuation; HPD with marked diurnal fluctuation [-]	A dystonia characterized by generalized dystonia, ..[+] A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. [-]

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