???pagination.result.count???
Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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.
[-]
|
|
|