pure hair and nail ectodermal dysplasia - 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:	pure hair and nail ectodermal dysplasia	go back to main search page
Accession:	DOID:0111655	browse the term
Definition:	An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)
Synonyms:	exact_synonym:	Ectodermal Dysplasia, Pure Hair-Nail Type
	primary_id:	MESH:C566592
	xref:	ORDO:69084

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Genes (2)

ectodermal dysplasia 4

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hoxc13

homeobox C13

ISO

CTD Direct Evidence: marker/mechanism

CTD

PMID:24239177

NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800

Krt85

keratin 85

ISO

ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:132,630,184...132,637,061
Ensembl chr 7:132,630,058...132,637,049

ectodermal dysplasia 9