JSON

hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

^ http://purl.obolibrary.org/obo/MONDO_0013722

Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:85186 (OMIM:213002)
  • UMLS:C3280644 (OMIM:614381)
  • MESH:C535353 (Orphanet:85186/e)
  • DOID:0060797 (MONDO:equivalentTo)
  • OMIM:213002 (Orphanet:85186/e)
  • OMIM:614381 (MONDO:equivalentTo)
  • GARD:0001195 (MONDO:equivalentTo)
  • UMLS:C1859301 (Orphanet:85186/e)
Subsets

ordo_malformation_syndrome

abbreviation
HLD8 [ MONDO:Lexical DOID:0060797 OMIM:614381 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4516, https://github.com/monarch-initiative/mondo/issues/4948

definition

Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859301, http://linkedlifedata.com/resource/umls/id/C3280644, http://purl.obolibrary.org/obo/DOID_0060797, http://purl.obolibrary.org/obo/Orphanet_85186, https://omim.org/entry/614381, http://identifiers.org/mesh/C535353

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019703

has exact synonym

endosteal sclerosis-cerebellar hypoplasia syndrome, HLD8, leukodystrophy caused by mutation in POLR3B, POLR3B leukodystrophy

has related synonym

cerebellar hypoplasia with endosteal sclerosis, leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

id

MONDO:0013722