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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 chr18:58,270,398...58,300,982
Ensembl chr18:58,270,410...58,301,002 		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 PMID:23590372 PMID:24033266 PMID:24722066 PMID:25201209 PMID:25271093 PMID:25741868 PMID:25899282 NCBI chr11:82,680,167...82,732,145 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      skin disease 2715
        hair disease 240
          hypotrichosis 115
            hypotrichosis 1 4
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal dominant disease 3159
                hypotrichosis 1 4
paths to the root