JSON

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

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

abbreviation
HLD8 [ https://omim.org/entry/614381 MONDO:Lexical DOID:0060797 ]

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)

exactMatch

http://linkedlifedata.com/resource/umls/id/C3280644

http://purl.obolibrary.org/obo/DOID_0060797

http://identifiers.org/medgen/482274

https://omim.org/entry/614381

http://www.orpha.net/ORDO/Orphanet_85186

http://identifiers.org/mesh/C535353

excluded subClassOf

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

has related synonym

cerebellar hypoplasia with endosteal sclerosis

leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

id

MONDO:0013722

term tracker item

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

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/6753

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

https://github.com/monarch-initiative/mondo/issues/6651