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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


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:24831815 PMID:25741868 NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    sensory system disease 9761
      mouth disease 1375
        Mouth Abnormalities 200
          gingival fibromatosis 8
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        Neurologic Manifestations 15414
          sensory system disease 9761
            mouth disease 1375
              tooth disease 775
                periodontal disease 144
                  gingival disease 30
                    gingival overgrowth 16
                      gingival fibromatosis 8
                        Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
paths to the root