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isolated familial woolly hair disorder

^ http://purl.obolibrary.org/obo/MONDO_0008686

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. [ Orphanet:170 ]

Term info

database cross reference
  • UMLS:CN200245 (MONDO:equivalentTo)
  • MedDRA:10048017 (Orphanet:170/e)
  • HP:0002224 (MONDO:otherHierarchy)
  • Orphanet:170 (OMIM:194300)
  • GARD:0005597 (MONDO:equivalentTo)
  • MESH:C536745 (Orphanet:170/e)
  • SCTID:52564001 (MONDO:equivalentTo)
  • DOID:0111572 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ADWH [ OMIM:194300 ]

closeMatch

http://identifiers.org/meddra/10048017

definition

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.

exactMatch

http://identifiers.org/mesh/C536745, http://identifiers.org/snomedct/52564001, http://purl.obolibrary.org/obo/DOID_0111572, http://linkedlifedata.com/resource/umls/id/CN200245, http://purl.obolibrary.org/obo/Orphanet_170

has exact synonym

woolly hair, hereditary woolly hair syndrome, familial woolly hair syndrome, hereditary wooly hair syndrome, familial wooly hair syndrome, wooly hair

has related synonym

hereditary woolly hair (autosomal dominant), ADWH, woolly hair, autosomal dominant, familial woolly hair (autosomal recessive), woolly hair syndrome

id

MONDO:0008686

Term relations