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Disease	Synonyms	Description	Articles
immunoglobulin heavy chain amyloidosis	Amyloidosis derived from immunoglobulin heavy chai.. [+] Amyloidosis derived from immunoglobulin heavy chain; AH amyloidosis; Heavy chain amyloidosis; Ig heavy-chain–associated amyloidosis [-]	An amyloidosis that is characterized by the aggreg..[+] An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. [-]
immunoglobulin heavy-and-light chain	AH/AL amyloidosis; Ig heavy-and-light-chain amyloi.. [+] AH/AL amyloidosis; Ig heavy-and-light-chain amyloidosis [-]	An amyloidosis that is characterized by both Ig he..[+] An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. [-]
serum amyloid A amyloidosis	AA amyloidosis; Apo serum amyloid A amyloidosis; i.. [+] Apo serum amyloid A amyloidosis; AA amyloidosis; inflammation AA amyloidosis; secondary amyloidosis [-]	An amyloidosis that is characterized by sustained ..[+] An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. [-]
wild-type amyloidosis	Age related amyloidosis; ATTRwt amyloidosis; Old a.. [+] ATTRwt amyloidosis; Age related amyloidosis; Old age amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis [-]	An amyloidosis that is characterized by progressiv..[+] An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. [-]
familial Behcet-like autoinflammatory syndrome	A20 haploinsufficiency	A primary immunodeficiency disease that is charact..[+] A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. [-]
primary hypoalphalipoproteinemia 2	Apolipoprotein A-I deficiency	A hypolipoproteinemia that is characterized by dys..[+] A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. [-]
nephrogenic diabetes insipidus type 2	autosomal nephrogenic diabetes insipidus-2	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. [-]
blastic plasmacytoid dendritic cell neoplasm	Agranular CD4+ Natural Killer Cell Leukemia; Agran.. [+] Agranular CD4+ Natural Killer Cell Leukemia; Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor; Blastic Natural Killer Leukemia/Lymphoma; Blastic NK-Cell Lymphoma; CD4+/CD56+ Hematodermic Neoplasm; natural killer (NK) cell leukemia/lymphoma [-]	An acute leukemia that is derived from the precurs..[+] An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. [-]
ectodermal dysplasia and immune deficiency	Anhidrotic ectodermal dysplasia with immune defici.. [+] Anhidrotic ectodermal dysplasia with immune deficiency; Ectodermal dysplasia, hypohidrotic, with immune deficiency [-]	An ectodermal dysplasia syndrome that is character..[+] An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. [-]
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	autosomal recessive mental retardation 36	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. [-]	1 articles
benign familial infantile seizures 6	Autosomal dominant nocturnal frontal lobe epilepsy.. [+] Autosomal dominant nocturnal frontal lobe epilepsy; Benign Familial Infantile Seizures, 6; nocturnal frontal lobe epilepsy-4 [-]	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. [-]
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-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	Autoimmune enteropathy type 1; autoimmunity-immuno.. [+] 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 [-]	A hypersensitivity reaction type II disease charac..[+] A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the 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. [-]

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