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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:hypotrichosis 1
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Accession:DOID:0110698 term browser 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.


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hypotrichosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1 APC down-regulated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605389		 OMIM
CTD
ClinVar		 PMID:10878665 PMID:20393562 PMID:22512811 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070 		JBrowse link
G 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 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Hereditary hypotrichosis simplex ClinVar PMID:18830268 PMID:19892526 PMID:20213768 PMID:21352330 PMID:22449147 More... NCBI chr11:79,032,229...79,081,625 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        hair disease 256
          hypotrichosis 129
            hypotrichosis 1 5
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                hypotrichosis 1 5
paths to the root