Autosomal Recessive Woolly Hair - Ontology Report

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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:	Autosomal Recessive Woolly Hair	go back to main search page
Accession:	DOID:9001083	browse the term
Synonyms:	related_synonym:	autosomal recessive woolly hair 1, with or without hypotrichosis
	primary_id:	MESH:C564735

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Genes (3)

Autosomal Recessive Woolly Hair

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Krt25

keratin 25

ISO

CTD Direct Evidence: marker/mechanism

CTD

NCBI chr10:84,267,399...84,275,025
Ensembl chr10:84,267,399...84,274,965

Lpar6

lysophosphatidic acid receptor 6

ISO

ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis

ClinVar

PMID:18297072 PMID:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More...

NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331

Rb1

RB transcriptional corepressor 1

ISO

ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis

ClinVar

PMID:18297072 PMID:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More...

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

autosomal recessive woolly hair 3