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Disease	Synonyms	Description	Articles
autosomal dominant distal hereditary motor neuronopathy 1	spinal Charcot-Marie-Tooth disease 1; autosomal do.. [+] spinal Charcot-Marie-Tooth disease 1; autosomal dominant distal juvenile spinal muscular atrophy type 1; dHMN1; distal hereditary motor neuropathy type I; HMN I; distal hereditary motor neuronopathy type 1 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. [-]
autosomal dominant distal hereditary motor neuronopathy 2	spinal Charcot-Marie-Tooth disease IIA; HMN II; HM.. [+] spinal Charcot-Marie-Tooth disease IIA; HMN II; HMN2; distal hereditary motor neuropathy type II; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuropathy type IIA; HMN IIA; HMN2A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. [-]
vestibular schwannomatosis	schwannomatosis 3; SWN3; SWNV; ACN; bilateral acou.. [+] SWNV; SWN3; schwannomatosis 3; ACN; bilateral acoustic neurinoma; bilateral acoustic schwannomas; central neurofibromatosis; familial acoustic neuromas; NF2; BANF; bilateral acoustic neurofibromatosis; neurofibromatosis type II; acoustic neurofibromatosis; neurofibromatosis 2; NF2-related schwannomatosis [-]	A schwannomatosis characterized by bilateral vesti..[+] A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. [-]
isolated sulfite oxidase deficiency	sulfocysteinuria	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. [-]
histiocytosis-lymphadenopathy plus syndrome	sinus histiocytosis and massive lymphadenopathy; S.. [+] sinus histiocytosis and massive lymphadenopathy; SHML; Faisalabad histiocytosis; familial Rosai-Dorfman disease; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Rosai–Dorfman disease [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
craniofacial-deafness-hand syndrome	Sommer-Young-Wee-Frye syndrome; CDHS	A syndrome characterized by a flat facial profile,..[+] A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. [-]
epidermolysis bullosa simplex with mottled pigmentation	speckled hyperpigmentation with punctate palmoplan.. [+] speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering; EBSMP; Epidermolysis bullosa simplex-MP [-]	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. [-]
Laurin-Sandrow syndrome	Sandrow syndrome; miccor hands and feet with nasal.. [+] Sandrow syndrome; miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; tetramelic mirror-image polydactyly; TMIP [-]	A dysostosis characterized by polysyndactyly of ha..[+] A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
ischiocoxopodopatellar syndrome	small patella syndrome; SPS; Scott-Taor syndrome; .. [+] Scott-Taor syndrome; SPS; small patella syndrome; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
mucopolysaccharidosis type IIIC	Sanfilippo syndrome type C; Acetyl-CoA alpha-gluco.. [+] Sanfilippo syndrome type C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C) [-]	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. [-]
mucopolysaccharidosis type IIIB	Sanfilippo syndrome type B; MPS3B; MPSIIIB; Mucopo.. [+] Sanfilippo syndrome type B; MPS3B; MPSIIIB; Mucopolysaccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); N-acetyl-alpha-glucosaminidase deficiency; Mucopoly-saccharidosis type 3B; NAGLU deficiency [-]	A mucopolysaccharidosis III characterized by neuro..[+] A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. [-]
mucopolysaccharidosis type IIIA	Sanfilippo syndrome type A; MPS3A; MPSIIIA; mucopo.. [+] Sanfilippo syndrome type A; MPS3A; MPSIIIA; mucopolysaccharidosis III-A; mucopolysaccharidosis type IIIA (Sanfilippo A); heparan sulfamidase deficiency; mucopolysaccharidosis type 3A [-]	A mucopolysaccharidosis III characterized by sever..[+] A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. [-]
congenital dyserythropoietic anemia type II	SEC23B-CDG; CDA II; CDA type II; Congenital dysery.. [+] SEC23B-CDG; CDA II; CDA type II; Congenital dyserythropoietic anaemia type 2; congenital dyserythropoietic anaemia type II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); CDA type 2; Congenital dyserythropoietic anemia type 2; CDAN2 [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. [-]
mucopolysaccharidosis type IIID	Sanfilippo syndrome D; Sanfilippo syndrome type D; .. [+] Sanfilippo syndrome type D; Sanfilippo syndrome D; GNS deficiency; MPS IIID; N-acetylglucosamine-6-sulfatase deficiency; Mucopolysaccharidosis type 3D; MPS3D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
trichohepatoenteric syndrome	Syndromic diarrhea/Tricho-hepato-enteric syndrome; .. [+] Syndromic diarrhea/Tricho-hepato-enteric syndrome; syndromic diarrhea; SD/THE; phenotypic diarrhea; THES; Tricho-hepato-enteric syndrome [-]	A syndrome characterized by intractable diarrhea, ..[+] A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. [-]
combined oxidative phosphorylation deficiency 19	severe neonatal lactic acidosis due to NFS1-ISD11 .. [+] severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency; COXPD19 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. [-]
combined oxidative phosphorylation deficiency 7	severe C12ORF65-related COXPD; severe C12ORF65-rel.. [+] severe C12ORF65-related COXPD; severe C12ORF65-related combined oxidative phosphorylation defect; COXPD7 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 34	syndromic sensorineural hearing loss due to COXPD; .. [+] syndromic sensorineural hearing loss due to COXPD; syndromic sensorineural deafness due to COXPD; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; COXPD34 [-]	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. [-]
combined oxidative phosphorylation deficiency 6	severe X-linked mitochondrial encephalomyopathy; C.. [+] severe X-linked mitochondrial encephalomyopathy; COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; Mitochondrial encephalomyopathy due to COXPD6 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
linear nevus sebaceous syndrome	Schimmelpenning Feuerstein Mims syndrome; Solomon .. [+] Schimmelpenning Feuerstein Mims syndrome; Solomon syndrome; SFM syndrome; Schimmelpenning syndrome; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; nevus sebaceus of Jadassohn; JNP; organoid nevus syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
paroxysmal extreme pain disorder	submandibular, ocular and rectal pain with flushin.. [+] submandibular, ocular and rectal pain with flushing; familial rectal pain; PEPD; PEXPD [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. [-]	1 articles
neurogenic scapuloperoneal syndrome Kaeser type	scapuloperoneal syndrome, neurogenic, Kaeser type; .. [+] scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome; scapuloperoneal syndrome type Kaeser; Kaeser syndrome [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
Charcot-Marie-Tooth disease type 2A2B	severe early-onset axonal neuropathy due to MFN2 d.. [+] severe early-onset axonal neuropathy due to MFN2 deficiency; SEOAN due to MFN2 deficiency; AR-CMT2, Ouvrier type; Charcot-Marie-Tooth disease, axonal, type 2A2B; CMT2A2B; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
overhydrated hereditary stomatocytosis	stomatocytosisIOHST; OHS; potassium sodium disorde.. [+] stomatocytosisIOHST; OHS; potassium sodium disorder of erythrocyte [-]	A macrocytic anemia characterized by macrocytic he..[+] A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. [-]
Greenberg dysplasia	Skeletal dysplasia, Greenberg type; autosomal rece.. [+] Skeletal dysplasia, Greenberg type; autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; hydrops-ectopic calcification-motheaten syndrome; hydrops, ectopic calcification, moth-eaten skeletal dysplasia [-]	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. [-]
distal arthrogryposis type 10	short Achilles tendon; short tendo calcaneus; DA10.. [+] short tendo calcaneus; short Achilles tendon; DA10; plantar flexion contracture [-]	A distal arthrogryposis that has_material_basis_in..[+] A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. [-]
distal arthrogryposis type 2B	Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndr.. [+] Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndrome variant [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
autosomal recessive spinocerebellar ataxia 4	spinocerebellar ataxia with saccadic intrusions; S.. [+] spinocerebellar ataxia with saccadic intrusions; SCA24; spinocerebellar ataxia 24; SCASI; SCAR4; autosomal recessive cerebellar ataxia-saccadic intrusion syndrome [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. [-]
autosomal recessive spinocerebellar ataxia 3	SCABD; SCAR3; autosomal recessive spinocerebellar .. [+] SCAR3; SCABD; autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 23	SCAR23; autosomal recessive cerebellar ataxia-epil.. [+] SCAR23; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. [-]
autosomal recessive spinocerebellar ataxia 22	SCAR22	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. [-]
autosomal recessive spinocerebellar ataxia 24	SCAR24	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
autosomal recessive spinocerebellar ataxia 6	SCAR6; autosomal recessive spinocerebellar ataxia .. [+] SCAR6; autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. [-]
autosomal recessive spinocerebellar ataxia 8	SYNE1-related autosomal recessive cerebellar ataxi.. [+] SYNE1-related autosomal recessive cerebellar ataxia; SCAR8; ARCA1; autosomal recessive ataxia, Beauce type; Autosomal recessive cerebellar ataxia type 1; recessive ataxia of Beauce [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. [-]
congenital sucrase-isomaltase deficiency	SI deficiency; congenital sucrase-isomaltose malab.. [+] SI deficiency; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; disaccharide intolerance; CSID [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. [-]
hyaline fibromatosis syndrome	systemic hyalinosis; HFS; inherited systemic hyali.. [+] systemic hyalinosis; HFS; inherited systemic hyalinosis; puretic syndrome [-]	A connective tissue disease characterized by abnor..[+] A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. [-]
primary hyperoxaluria type 1	serine pyruvate aminotransferase deficiency; serin.. [+] serine pyruvate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; glycolic aciduria [-]	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. [-]
diffuse cystic renal dysplasia	susceptibility to cystic renal dysplasia; CYSRD; r.. [+] susceptibility to cystic renal dysplasia; CYSRD; renal dysplasia diffuse cystic [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]	1 articles
aminoglycoside-induced deafness	streptomycin ototoxicity; streptomycin-induced dea.. [+] streptomycin ototoxicity; streptomycin-induced deafness [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
cerebellar ataxia type 42	SCA42	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. [-]
cerebellar ataxia type 47	SCA47	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. [-]
cerebellar ataxia type 41	SCA41	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]
cerebellar ataxia type 43	SCA43	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. [-]
cerebellar ataxia type 48	SCA48	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. [-]
cerebellar ataxia type 9	SCA9	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. [-]
46,XX sex reversal	SRXX; 46,XX testicular disorder of sex development.. [+] SRXX; 46,XX testicular disorder of sex development; 46,XX testicular DSD; De la Chapelle syndrome; XX, male syndrome [-]	A gonadal dysgenesis characterized by presentation..[+] A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. [-]
46,XX sex reversal 1	SRXX1	A 46,XX sex reversal that has_material_basis_in tr..[+] A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. [-]
46,XX sex reversal 3	SRXX3	A 46,XX sex reversal that has_material_basis_in ge..[+] A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. [-]
46,XX sex reversal 2	SRXX2; chromosome 17q24 dupication syndrome	A 46,XX sex reversal that has_material_basis_in he..[+] A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. [-]

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