Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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

GViewer not supported for the selected species.

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 OMIM
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr16:52,278,563...52,373,218
Ensembl chr16:52,278,573...52,362,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      mouth disease 965
        Mouth Abnormalities 167
          gingival fibromatosis 7
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        Neurologic Manifestations 9473
          sensory system disease 6584
            mouth disease 965
              tooth disease 431
                periodontal disease 130
                  gingival disease 24
                    gingival overgrowth 13
                      gingival fibromatosis 7
                        Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
paths to the root