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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:Ambras type hypertrichosis universalis congenita
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Accession:DOID:0111060 term browser browse the term
Definition:A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. (DO)
Synonyms:exact_synonym: Ambras syndrome;   HTC1
 broad_synonym: congenital generalized hypertrichosis
 primary_id: MESH:C536605
 alt_id: OMIM:145701;   RDO:0002235
 xref: GARD:8206;   ICD10CM:Q84.2;   ORDO:1023


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        hair disease 328
          hypertrichosis 29
            Ambras type hypertrichosis universalis congenita 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              hair disease 328
                hypertrichosis 29
                  Ambras type hypertrichosis universalis congenita 0
paths to the root