has material basis in germline mutation in POLR1C hypomyelinating leukodystrophy 11 https://github.com/monarch-initiative/mondo/issues/6651 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/leukodystrophy_hypomyelinating_11 GARD:0018088 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621). Note, the variation in POLR1C acts in both POL1 and POL3 complexes (OMIM:610060). MONDO:0014666 leukodystrophy, hypomyelinating, type 11 HLD11 DOID:0060792 MEDGEN:897960 POLR1C leukodystrophy Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. hypomyelinating leukodystrophy type 11 UMLS:C4225305 OMIM:616494 leukodystrophy, hypomyelinating, 11 leukodystrophy caused by mutation in POLR1C leukodystrophy POLR1C-related disorder POLR3-related leukodystrophy