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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:GAPO syndrome
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Accession:DOID:0112249 term browser browse the term
Definition:A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3. (DO)
Synonyms:exact_synonym: GAPOS;   Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy;   Odontotrichomelic Syndrome;   growth delay-alopecia-pseudoanodontia-optic atrophy syndrome;   tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
 primary_id: MESH:C535642
 alt_id: DOID:9008322;   OMIM:230740
 xref: ORDO:2067
For additional species annotation, visit the Alliance of Genome Resources.


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GAPO syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868, PMID:23602711 RGD:9684854 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      GAPO syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            cranial nerve disease 418
              optic nerve disease 217
                optic atrophy 114
                  Hereditary Optic Atrophies 63
                    GAPO syndrome 1
paths to the root