Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


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 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 PMID:25741868 NCBI chr10:98,573,226...98,645,028
Ensembl chr10:98,576,039...98,644,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    sensory system disease 5443
      skin disease 2816
        hair disease 244
          hypertrichosis 26
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        sensory system disease 5443
          mouth disease 770
            tooth disease 295
              periodontal disease 114
                gingival disease 23
                  gingival overgrowth 12
                    gingival fibromatosis 7
                      Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
paths to the root