JSON

microcephaly-complex motor and sensory axonal neuropathy syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018507

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. [ Orphanet:423894 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:423894 (MONDO:equivalentTo)
  • UMLS:C4706585 (MONDO:equivalentTo)
  • MEDGEN:1637079 (MONDO:equivalentTo)
  • GARD:21762 (MONDO:GARD)
Subsets

gard_rare, ordo_disorder, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6752

exactMatch

http://www.orpha.net/ORDO/Orphanet_423894

http://identifiers.org/medgen/1637079

http://linkedlifedata.com/resource/umls/id/C4706585

id

MONDO:0018507