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Disease	Synonyms	Description	Articles
corticosteroid-binding globulin deficiency	CBG deficiency; transcortin deficiency	An adrenal gland disease characterized by decrease..[+] An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. [-]
childhood-onset GLUT1 deficiency syndrome 2		A dystonia that is characterized by paroxysmal exe..[+] A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. [-]	1 articles
congenital amegakaryocytic thrombocytopenia	congenital amegakaryocytic thrombocytopenic purpur.. [+] congenital amegakaryocytic thrombocytopenic purpura; CAMT [-]	A thrombocytopenia that is characterized by a seve..[+] A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	CAP syndrome; camptodactyly-arthropathy-pericardit.. [+] CAP syndrome; camptodactyly-arthropathy-pericarditis syndrome; congenital familial hypertrophic synovitis; CACP syndrome; CACP; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; Jacobs 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. [-]
Carvajal syndrome	Carvajal syndrome; palmoplantar keratoderma with l.. [+] Carvajal syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; DCWHK; dilated cardiomyopathy with woolly hair and keratoderma [-]	A Naxos disease that is characterized by dilated c..[+] A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. [-]
carnitine palmitoyltransferase I deficiency	carnitine palmitoyl transferase IA deficiency; CPT.. [+] carnitine palmitoyl transferase IA deficiency; CPT1A deficiency; CPT I deficiency; carnitine palmitoyl transferase 1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic CPT deficiency type I; L-CPT1 deficiency; hepatic carnitine palmitoyl transferase I deficiency [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
cortical dysplasia-focal epilepsy syndrome	CDFE syndrome; CDFES; Pitt-Hopkins-like syndrome-1.. [+] CDFES; CDFE syndrome; Pitt-Hopkins-like syndrome-1; PTHSL1 [-]	A brain disease that is characterized by cortical ..[+] A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. [-]
complex cortical dysplasia with other brain malformations	CDCBM	A brain disease characterized by aberrant neuronal..[+] A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations including; polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis and behavioral phenotypes including; intellectual disablility, strabismus, axial hypotonia, and spasticity. [-]
complex cortical dysplasia with other brain malformations 7	CDCBM7; polymicrogyria due to TUBB2B mutation	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. [-]
complex cortical dysplasia with other brain malformations 2	CDCBM2	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF5C gene on chromosome 2q23. [-]
complex cortical dysplasia with other brain malformations 3	CDCBM3	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF2A gene on chromosome 5q12. [-]
complex cortical dysplasia with other brain malformations 5	CDCBM5	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB2A gene on chromosome 6p25. [-]
complex cortical dysplasia with other brain malformations 6	CDCBM56	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21. [-]
complex cortical dysplasia with other brain malformations 1	cortical dysgenesis with pontocerebellar hypoplasi.. [+] cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation; CDCBM1 [-]	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. [-]
complex cortical dysplasia with other brain malformations 4	CDCBM4	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBG1 gene on chromosome 17q21. [-]
cortisone reductase deficiency	CORTRD	An endocrine system disease characterized by failu..[+] An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. [-]
cortisone reductase deficiency 2	CORTRD2	A cortisone reductase deficiency that has_material..[+] A cortisone reductase deficiency that has_material_basis_in heterozygous mutation in the HSD11B1 gene on chromosome 1q32. [-]
cortisone reductase deficiency 1	CORTRD1	A cortisone reductase deficiency that has_material..[+] A cortisone reductase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36. [-]
cystathioninuria	cystathione gamma-lyase deficiency syndrome; cysta.. [+] cystathione gamma-lyase deficiency syndrome; cystathionase deficiency; gamma-cystathionase deficiency [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. [-]
Charcot-Marie-Tooth disease type 1A	CMT1A; Charcot-Marie-Tooth neuropathy type 1A; aut.. [+] Charcot-Marie-Tooth neuropathy type 1A; CMT1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; hereditary motor and sensory neuropathy 1A; HMSN1A; 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 1F	CMT1F; Charcot-Marie-Tooth neuropathy type 1F	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. [-]
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth neuropathy type 1D; CMT1D; HMS.. [+] CMT1D; Charcot-Marie-Tooth neuropathy type 1D; HMSN ID; HMSN1D; hereditary motor and sensory neuropathy 1D [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1C	CMT1C; CMT slow nerve conduction type C; Charcot-M.. [+] CMT slow nerve conduction type C; CMT1C; Charcot-Marie-Tooth neuropathy type 1C; HMSN IC; HMSN1C; neuropathy hereditary motor and sensory type 1C [-]	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 LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1B	Charcot-Marie-Tooth disease slow nerve conduction .. [+] Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; CMT1B; Charcot-Marie-Tooth neuropathy type 1B; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; peroneal muscular atrophy [-]	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	Charcot-Marie-Tooth disease-deafness; CMT1E; Charc.. [+] CMT1E; Charcot-Marie-Tooth disease-deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease and deafness; autosomal dominant Charcot-Marie-Tooth neuropathy and deafness [-]	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	CMT2A1; Charcot-Marie-Tooth neuropathy type 2A1; C.. [+] Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; Charcot-Marie-Tooth disease neuronal type 2A1; autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; hereditary motor and sensory neuropathy IIA1; HMSN IIA1; HMSN2A1 [-]	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	Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A; CM.. [+] CMT2A2A; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2; Charcot-Marie-Tooth neuropathy type 2A2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; hereditary motor and sensory neuropathy IIA2; HMSN IIA2; HMSN2A2 [-]	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	Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1; C.. [+] CMT2B1; Charcot-Marie-Tooth neuropathy type 2B1; Charcot-Marie-Tooth disease neuronal type 2B1; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; autosomal recessive Charcot-Marie-Tooth disease type 2B1 [-]	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 2J	Charcot-Marie-Tooth neuropathy type 2J; CMT2J; Cha.. [+] CMT2J; Charcot-Marie-Tooth neuropathy type 2J; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 2I	CMT2I; Charcot-Marie-Tooth neuropathy type 2I	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 myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 2B	Charcot-Marie-Tooth neuropathy type 2B; CMT2B; HMS.. [+] CMT2B; Charcot-Marie-Tooth neuropathy type 2B; HMSN IIB; HMSN2B; autosomal dominant Charcot-Marie-Tooth disease type 2B; 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	Charcot-Marie-Tooth neuropathy type 2T; CMT2T; AR-.. [+] CMT2T; Charcot-Marie-Tooth neuropathy type 2T; AR-CMT2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T [-]	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	Charcot-Marie-Tooth neuropathy type 2R; CMT2R; aut.. [+] CMT2R; Charcot-Marie-Tooth neuropathy type 2R; autosomal recessive axonal Charcot-Marie-Tooth disease type 2R [-]	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	CMT2W; Charcot-Marie-Tooth neuropathy type 2W; aut.. [+] Charcot-Marie-Tooth neuropathy type 2W; CMT2W; autosomal dominant axonal Charcot-Marie-Tooth disease 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	CMT2F; Charcot-Marie-Tooth neuronal type 2F; Charc.. [+] Charcot-Marie-Tooth neuronal type 2F; CMT2F; Charcot-Marie-Tooth neuropathy type 2F; autosomal dominant Charcot-Marie-Tooth disease 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	CMT2D; Charcot-Marie-Tooth neuropathy type 2D; Cha.. [+] Charcot-Marie-Tooth neuropathy type 2D; CMT2D; Charcot-Marie-Tooth disease neuronal type 2D; autosomal dominant Charcot-Marie-Tooth disease 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	CMT2E; Charcot-Marie-Tooth neuropathy type 2E; aut.. [+] Charcot-Marie-Tooth neuropathy type 2E; CMT2E; autosomal dominant Charcot-Marie-Tooth disease 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	Charcot-Marie-Tooth disease type 2H; CMT2H; AR-CMT.. [+] CMT2H; Charcot-Marie-Tooth disease type 2H; AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; Autosomal recessive axonal CMT4C2 [-]	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	Charcot-Marie-Tooth neuropathy axonal type 2K; ARC.. [+] Charcot-Marie-Tooth neuropathy axonal type 2K; ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; autosomal recessive axonal CMT4C4; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; autosomal recessive axonal Charcot-Marie-Tooth disease disease 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	CMT2Y; Charcot-Marie-Tooth neuropathy type 2Y; CMT.. [+] Charcot-Marie-Tooth neuropathy type 2Y; CMT2Y; CMT2 due to VCP mutation; autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation [-]	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 2P	Charcot-Marie-Tooth neuropathy type 2P; CMT2P; Cha.. [+] CMT2P; Charcot-Marie-Tooth neuropathy type 2P; Charcot-Marie-Tooth disease type 2P [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. [-]
Charcot-Marie-Tooth disease axonal type 2Q	Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q; aut.. [+] CMT2Q; Charcot-Marie-Tooth neuropathy type 2Q; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q [-]	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	CMT2S; Charcot-Marie-Tooth disease type 2S; Charco.. [+] Charcot-Marie-Tooth disease type 2S; CMT2S; Charcot-Marie-Tooth neuropathy type 2S; autosomal recessive axonal Charcot-Marie-Tooth 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	CMT2U; Charcot-Marie-Tooth neuropathy type 2U; aut.. [+] Charcot-Marie-Tooth neuropathy type 2U; CMT2U; autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; autosomal dominant Charcot-Marie-Tooth disease 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	Charcot-Marie-Tooth neuropathy axonal type 2L; CMT.. [+] Charcot-Marie-Tooth neuropathy axonal type 2L; CMT2L; autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; autosomal dominant Charcot-Marie-Tooth disease 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	Charcot-Marie-Tooth neuropathy axonal type 2O; aut.. [+] Charcot-Marie-Tooth neuropathy axonal type 2O; autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; autosomal dominant Charcot-Marie-Tooth disease 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	Charcot-Marie-Tooth neuropathy type 2X; autosomal .. [+] Charcot-Marie-Tooth neuropathy type 2X; autosomal recessive axonal Charcot-Marie-Tooth disease 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	CMT2N; Charcot-Marie-Tooth neuropathy axonal type .. [+] CMT2N; Charcot-Marie-Tooth neuropathy axonal type 2N; autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N [-]	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	Charcot-Marie-Tooth neuropathy type 2V; CMT2V; aut.. [+] CMT2V; Charcot-Marie-Tooth neuropathy type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V [-]	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. [-]
Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth neuropathy type 2B2; CMT2B2; C.. [+] CMT2B2; Charcot-Marie-Tooth neuropathy type 2B2; Charcot-Marie-Tooth disease neuronal type 2B2; ARCMT2B; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; Autosomal recessive axonal CMT4C3; AR-CMT2B2 [-]	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 MED25 gene. [-]

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