has material basis in germline mutation in disease has feature disease has major feature POLR3B Increased bone mineral density syndromic disease reproductive system disorder endocrine system disorder hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism https://github.com/monarch-initiative/mondo/issues/4516 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6753 https://github.com/monarch-initiative/mondo/issues/7693 https://github.com/monarch-initiative/mondo/issues/8351 https://www.malacards.org/card/hypomyelinating_leukodystrophy_8 https://www.malacards.org/card/leukodystrophy_hypomyelinating_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism GARD:0018624 Orphanet:85186 MEDGEN:482274 Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. endosteal sclerosis-cerebellar hypoplasia syndrome 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) MONDO:0013722 DOID:0060797 cerebellar hypoplasia with endosteal sclerosis POLR3B leukodystrophy OMIM:614381 leukodystrophy caused by mutation in POLR3B MESH:C535353 HLD8 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM:213002 UMLS:C3280644 leukodystrophy obsolete primary bone dysplasia with increased bone density central nervous system malformation POLR3B-related disorder POLR3-related leukodystrophy