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cervical hypertrichosis-peripheral neuropathy syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009405

Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. [ Orphanet:2218 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:239840 (Orphanet:2218/e)
  • GARD:1226 (MONDO:GARD)
  • MESH:C565492 (MONDO:equivalentTo)
  • Orphanet:2218 (OMIM:239840)
  • MEDGEN:341004 (MONDO:equivalentTo)
  • UMLS:C1855902 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1855902

http://www.orpha.net/ORDO/Orphanet_2218

http://identifiers.org/mesh/C565492

https://omim.org/entry/239840

http://identifiers.org/medgen/341004

has related synonym

cervical hypertrichosis peripheral neuropathy

hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy

id

MONDO:0009405

seeAlso

https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy