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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:Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia
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Accession:DOID:9006967 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;   Chromosome 17q24.2-q24.3 Deletion Syndrome;   Fibromatosis, Gingival, with Hypertrichosis;   HTC3;   HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;   MICRODUPLICATION 17q24.2-q24.3 SYNDROME;   Microdeletion 17q24.2-q24.3 Syndrome
 primary_id: MESH:C565016
 alt_id: OMIM:135400


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Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr17:63,172,670...63,255,587
Ensembl chr17:68,563,702...68,629,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      mouth disease 978
        Mouth Abnormalities 168
          gingival fibromatosis 7
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            mouth disease 978
              tooth disease 433
                periodontal disease 129
                  gingival disease 23
                    gingival overgrowth 13
                      gingival fibromatosis 7
                        Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
paths to the root