neuronopathy, distal hereditary motor, autosomal recessive
Go to external page http://purl.obolibrary.org/obo/MONDO_0015363
Autosomal recessive form of distal hereditary motor neuropathy. [ MONDO:patterns/autosomal_recessive ]
Synonyms: autosomal recessive dHMN autosomal recessive dSMA autosomal recessive distal hereditary motor neuropathy distal hereditary motor neuropathy, autosomal recessive autosomal recessive distal spinal muscular atrophy
Term information
- UMLS:C5548369 (MONDO:equivalentTo)
- DOID:0111197 (MONDO:equivalentTo)
- OMIMPS:604320 (MONDO:equivalentTo)
- Orphanet:140468 (MONDO:equivalentTo)
- GARD:19927 (MONDO:GARD)
- MEDGEN:1779821 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C5548369
http://www.orpha.net/ORDO/Orphanet_140468
http://purl.obolibrary.org/obo/DOID_0111197
http://identifiers.org/medgen/1779821
https://omim.org/phenotypicSeries/PS604320