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Disease	Synonyms	Description	Articles
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Autosomal dominant multiple pterygium syndrome	A contractures, pterygia, and spondylocarpotarsal ..[+] A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. [-]
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	Autosomal recessive multiple pterygium syndrome	A contractures, pterygia, and spondylocarpotarsal ..[+] A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. [-]
oxoglutarate dehydrogenase deficiency	alpha-ketoglutarate dehydrogenase deficiency; Oxog.. [+] alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. [-]
isolated mitochondrial myopathy	Autosomal dominant mitochondrial myopathy with exe.. [+] Autosomal dominant mitochondrial myopathy with exercise intolerance [-]	A mitochondrial myopathy that is characterized by ..[+] A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. [-]
progressive non-fluent aphasia	Agramatic variant of primary progressive aphasia; .. [+] Agramatic variant of primary progressive aphasia; nonfluent agrammatic PPA [-]	A primary progressive aphasia that is characterize..[+] A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. [-]
Tietz syndrome	albinism-deafness of Tietz; hypopigmentation/deafn.. [+] albinism-deafness of Tietz; hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome [-]	A syndrome that is characterized by congenital pro..[+] A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. [-]
Schwartz-Jampel syndrome 1	Aberfeld syndrome; Burton syndrome; Catel-Hempel s.. [+] Aberfeld syndrome; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; Burton skeletal dysplasia; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1 [-]	A syndrome characterized by neuromyotonia and chon..[+] A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
severe combined immunodeficiency with sensitivity to ionizing radiation	artemis deficiency; SCID due to artemis deficiency.. [+] artemis deficiency; SCID due to artemis deficiency; SCID, Athabascan type; SCID, Athabaskan type; Severe combined immunodeficiency due to artemis deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; Severe combined immunodeficiency, Athabascan type; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency, Athabaskan type [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. [-]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	autosomal recessive T cell-negative, B-cell negati.. [+] autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID; SCID due to complete RAG1-2 deficiency; Severe combined immunodeficiency due to complete RAG1-2 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. [-]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive	autosomal recessive T cell-negative, B-cell positi.. [+] autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID; autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. [-]
familial isolated deficiency of vitamin E	ataxia with isolated vitamin E deficiency; familia.. [+] ataxia with isolated vitamin E deficiency; familial isolated vitamin E deficiency [-]	A vitamin metabolic disorder characterized by prog..[+] A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. [-]
ocular albinism with sensorineural deafness	autosomal recessive Waardenburg syndrome type 2 wi.. [+] autosomal recessive Waardenburg syndrome type 2 with ocular albinism; WS2-OA; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism [-]	An ocular albinism that is characterized by deafne..[+] An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. [-]
Huntington's disease-like 1	autosomal dominant Huntington-like neurodegenerati.. [+] autosomal dominant Huntington-like neurodegenerative disorder; early-onset prion disease with prominent psychiatric features; HDL1; HLN1; Huntington-like neurodegenerative disorder 1; Huntington disease-like 1 [-]	A prion disease that is characterized by a phenoco..[+] A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. [-]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	autoimmunity-immunodeficiency syndrome, X-linked; .. [+] autoimmunity-immunodeficiency syndrome, X-linked; Autoimmune enteropathy type 1; autoimmunity-immunodeficiency syndrome, X-linked; X-linked autoimmunity-allergic dysregulation syndrome; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; DMSD; IDDM-secretory diarrhea syndrome; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked; IPEX; XLAAD; XPID; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; X-linked autoimmunity-allergic dysregulation syndrome [-]	An autoimmune disease that is characterized by ons..[+] An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. [-]
spinocerebellar ataxia with axonal neuropathy 1	autosomal recessive spinocerebellar ataxia with ax.. [+] autosomal recessive spinocerebellar ataxia with axonal neuropathy 1; autosomal recessive spinocerebellar ataxia with axonal neuropathy; SCAN1; spinocerebellar ataxia with axonal neuropathy type 1 [-]	A nervous system disease characterized by autosoma..[+] A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. [-]
neurogenic-type arthrogryposis multiplex congenita-2	arthrogryposis multiplex congenita 2, neurogenic t.. [+] arthrogryposis multiplex congenita 2, neurogenic type; AMC2; arthrogryposis multiplex congenita neurogenic type; AMCN; AMC neurogenic type [-]	An arthrogryposis multiplex congenita that is char..[+] An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. [-]
brain small vessel disease 1	autosomal dominant retinal arteriolar tortuosity, .. [+] autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
branched-chain keto acid dehydrogenase kinase deficiency	autism-epilepsy syndrome due to branched chain ket.. [+] autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency; BCKDKD [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	arthropathy-camptodactyly syndrome; CACP; CACP syn.. [+] arthropathy-camptodactyly syndrome; CACP; CACP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
3-methylglutaconic aciduria type 3	autosomal recessive optic atrophy type 3; autosoma.. [+] autosomal recessive optic atrophy type 3; autosomal recessive optic atrophy plus syndrome; 3-methylglutaconic aciduria type III; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
Leber congenital amaurosis 2	amaurosis congenita of Leber II; LCA2	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. [-]
hemoglobin H disease	alpha-thalassemia intermedia; alpha thalassemia, h.. [+] alpha-thalassemia intermedia; alpha thalassemia, haemoglobin H type; alpha thalassemia, hemoglobin H type; HBH; hemoglobin H disease, deletional; haemoglobin H disease; haemoglobin H disease, deletional [-]	An alpha thalassemia that has_material_basis_in co..[+] An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. [-]
X-linked Alport syndrome	ATS; nephropathy and deafness, X-linked	An Alport syndrome that has_material_basis_in muta..[+] An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). [-]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	amelogenesis imperfecta 3 hypoplastic type; amelog.. [+] amelogenesis imperfecta 3 hypoplastic type; amelogenesis imperfecta type IE X-linked 2; AIH3; X-linked enamel hypoplasia [-]	An amelogenesis imperfecta associated with mutatio..[+] An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [-]
juvenile amyotrophic lateral sclerosis with dementia	ALS-dementia complex	A juvenile amyotrophic lateral sclerosis that is s..[+] A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. [-]
Leber congenital amaurosis 1	amaurosis congenita of Leber I; LCA1	A Leber congenital amaurosis characterized by seve..[+] A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. [-]
Charcot-Marie-Tooth disease type 1A	autosomal dominant Charcot-Marie-Tooth disease wit.. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A; Charcot-Marie-Tooth neuropathy type 1A; microduplication 17p12 [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1B	autosomal dominant Charcot-Marie-Tooth disease wit.. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; peroneal muscular atrophy; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]	1 articles
Charcot-Marie-Tooth disease type 1E	autosomal dominant Charcot-Marie-Tooth neuropathy .. [+] autosomal dominant Charcot-Marie-Tooth neuropathy and deafness; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness; CMT1E [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). [-]
Charcot-Marie-Tooth disease type 2A1	autosomal dominant Charcot-Marie-Tooth disease axo.. [+] autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; CMT2A1; hereditary motor and sensory neuropathy IIA1; HMSN IIA1; HMSN2A1; Charcot-Marie-Tooth neuropathy type 2A1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; hereditary motor and sensory neuropathy IIA2; HMSN IIA2; HMSN2A2; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B1	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease neuronal type 2B1; Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. [-]
Charcot-Marie-Tooth disease type 2B	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2B; Charcot-Marie-Tooth neuropathy type 2B; CMT2B; HMSN IIB; HMSN2B; hereditary motor and sensory nueropathy IIB [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. [-]	1 articles
Charcot-Marie-Tooth disease axonal type 2T	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; AR-CMT2T; Charcot-Marie-Tooth neuropathy type 2T; CMT2T [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. [-]
Charcot-Marie-Tooth disease type 2R	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2R; Charcot-Marie-Tooth neuropathy type 2R; CMT2R [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. [-]
Charcot-Marie-Tooth disease, axonal type 2W	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2W; CMT2W; Charcot-Marie-Tooth neuropathy type 2W [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. [-]
Charcot-Marie-Tooth disease axonal type 2F	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth neuropathy type 2F; CMT2F; Charcot-Marie-Tooth neuronal type 2F [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). [-]
Charcot-Marie-Tooth disease type 2D	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2D; Charcot-Marie-Tooth disease neuronal type 2D; CMT2D; Charcot-Marie-Tooth neuropathy type 2D [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. [-]
Charcot-Marie-Tooth disease type 2E	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2E; CMT2E; Charcot-Marie-Tooth neuropathy type 2E [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. [-]
Charcot-Marie-Tooth disease axonal type 2H	Autosomal recessive axonal CMT4C2; Axonal Charcot-.. [+] Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; AR-CMT2C; Charcot-Marie-Tooth disease type 2H; CMT2H [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. [-]
Charcot-Marie-Tooth disease axonal type 2K	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; autosomal recessive axonal CMT4C4; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; ARCMT2K; Charcot-Marie-Tooth neuropathy axonal type 2K [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. [-]
Charcot-Marie-Tooth disease type 2Y	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; autosomal dominant axonal Charcot-Marie-Tooth type 2Y; CMT2 due to VCP mutation; CMT2Y; Charcot-Marie-Tooth neuropathy type 2Y [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. [-]
Charcot-Marie-Tooth disease axonal type 2Q	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2Q; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. [-]
Charcot-Marie-Tooth disease axonal type 2S	autosomal recessive axonal Charcot-Marie-Tooth typ.. [+] autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S; Charcot-Marie-Tooth disease type 2S [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
Charcot-Marie-Tooth disease axonal type 2U	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2U; autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; CMT2U; Charcot-Marie-Tooth neuropathy type 2U [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. [-]
Charcot-Marie-Tooth disease axonal type 2L	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2L; autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; CMT2L; Charcot-Marie-Tooth neuropathy axonal type 2L [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. [-]
Charcot-Marie-Tooth disease axonal type 2O	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2O; autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth neuropathy axonal type 2O [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. [-]
Charcot-Marie-Tooth disease axonal type 2X	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth neuropathy type 2X [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. [-]
Charcot-Marie-Tooth disease axonal type 2N	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2N; autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth neuropathy axonal type 2N; CMT2N [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. [-]
Charcot-Marie-Tooth disease axonal type 2V	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V; Charcot-Marie-Tooth neuropathy type 2V; CMT2V [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. [-]

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