JSON

congenital hypotrichosis with juvenile macular dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0011107

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. [ Orphanet:1573 ]

Term info

database cross reference
  • DOID:0110711 (MONDO:equivalentTo)
  • MESH:C537698 (MONDO:equivalentTo)
  • UMLS:C1832162 (Orphanet:1573/e)
  • GARD:0003066 (MONDO:equivalentTo)
  • Orphanet:1573 (OMIM:601553)
  • OMIM:601553 (Orphanet:1573/e)
Subsets

ordo_malformation_syndrome

abbreviation
HJMD [ OMIM:601553 Orphanet:1573 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

exactMatch

https://omim.org/entry/601553, http://purl.obolibrary.org/obo/Orphanet_1573, http://identifiers.org/mesh/C537698, http://purl.obolibrary.org/obo/DOID_0110711, http://linkedlifedata.com/resource/umls/id/C1832162

has exact synonym

hypotrichosis with cone-rod dystrophy, hypotrichosis with juvenile macular dystrophy, HJMD, Hjmd

has related synonym

hypotrichosis, congenital, with juvenile macular dystrophy, hypotrichosis with juvenile macular degeneration, juvenile macular degeneration and hypotrichosis, juvenile macular dystrophy and congenital hypotrichosis

id

MONDO:0011107