Charcot-Marie-Tooth disease recessive intermediate A
http://purl.obolibrary.org/obo/MONDO_0012014
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. [ Orphanet:217055 ]
Term info
- GARD:0012453 (MONDO:equivalentTo)
- UMLS:C1842197 (Orphanet:217055)
- DOID:0110201 (MONDO:equivalentTo)
- Orphanet:217055 (OMIM:608340)
- OMIM:608340 (Orphanet:217055/e)
- MESH:C564256 (MONDO:equivalentTo)
ordo_disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
https://omim.org/entry/608340, http://purl.obolibrary.org/obo/Orphanet_217055, http://purl.obolibrary.org/obo/DOID_0110201, http://linkedlifedata.com/resource/umls/id/C1842197, http://identifiers.org/mesh/C564256
Charcot-Marie-Tooth neuropathy recessive intermediate A, Charcot-Marie-Tooth disease recessive intermediate type A, RI-CMTA, CMTRIA, GDAP1 Charcot-Marie-Tooth disease, autosomal recessive intermediate Charcot-Marie-Tooth disease type A, RI-CMT type A, Charcot-Marie-Tooth disease, recessive Intermediate type a, Charcot-Marie-Tooth disease caused by mutation in GDAP1
Charcot-Marie-Tooth neuropathy, recessive Intermediate a, Charcot-Marie-Tooth disease, recessive intermediate A, Ri-Cmta, Charcot-Marie-Tooth disease, recessive intermediate, A
MONDO:0012014