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: hypotrichosis 1
Accession: DOID:0110698
browse the term
Definition: A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22. (DO)
Synonyms: exact_synonym: HHS; HTS; HYPT1; hereditary generalized hypotrichosis simplex; hereditary generelized hypotrichosis simplex; hereditary hypotrichosis simplex; hypotrichosis simplex
primary_id: MESH:C537160
alt_id: OMIM:605389
For additional species annotation, visit the
Alliance of Genome Resources .
G
Apcdd1
APC down-regulated 1
ISO
ClinVar Annotator: match by term: Hypotrichosis 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10878665 PMID:20393562 PMID:22512811
NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070
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Cdh3
cadherin 3
ISO
ClinVar Annotator: match by term: Hypotrichosis simplex
ClinVar
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Hypotrichosis simplex
ClinVar
PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:19931493 PMID:20944642 PMID:23039039 PMID:23232694 PMID:24033266 PMID:25620205 PMID:25741868 PMID:28492532 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Liph
lipase H
ISO
ClinVar Annotator: match by term: Hypotrichosis simplex
ClinVar
PMID:18830268 PMID:19892526 PMID:20213768 PMID:21352330 PMID:22449147 PMID:23590372 PMID:24033266 PMID:24722066 PMID:25201209 PMID:25271093 PMID:25741868 PMID:25899282 More...
NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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Lpar6
lysophosphatidic acid receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18297070
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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Snrpe
small nuclear ribonucleoprotein polypeptide E
ISO
DNA:snp:cds:c.1A>G (human)
RGD
PMID:23246290
RGD:10768831
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all