hypomyelinating leukodystrophy 26 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	hypomyelinating leukodystrophy 26	go back to main search page
Accession:	DOID:0070403	browse the term
Definition:	A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. (DO)
Synonyms:	exact_synonym:	Chondrodysplasia with hypomyelinating leukodystrophy; HLD26; Hypomyelinating leukodystrophy 26 with chondrodysplasia
	primary_id:	OMIM:620269
	alt_id:	DOID:9008469

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Genes (2)

hypomyelinating leukodystrophy 26

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Polr1c

RNA polymerase I and III subunit C

ISO

ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia

ClinVar

PMID:35325049

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

Slc35b2

solute carrier family 35 member B2

ISO

ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia

ClinVar
OMIM

PMID:35325049

NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234

Term paths to the root

Path 1
Term	Annotations
disease	18969
Developmental Disease	14401
bone development disease	2307
osteochondrodysplasia	861
hypomyelinating leukodystrophy 26	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
Metabolic Brain Diseases	1490
Metabolic Brain Diseases, Inborn	1358
Hereditary Central Nervous System Demyelinating Diseases	114
hypomyelinating leukodystrophy	62
hypomyelinating leukodystrophy 26	2

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS