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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:Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy
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Accession:DOID:9008322 term browser browse the term
Synonyms:exact_synonym: GAPOS;   Gapo syndrome;   Odontotrichomelic Syndrome;   tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
 primary_id: MESH:C535642
 alt_id: OMIM:230740;   RDO:0000876
For additional species annotation, visit the Alliance of Genome Resources.


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Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 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 16123
    Pathological Conditions, Signs and Symptoms 8840
      Pathologic Processes 6201
        Growth Disorders 324
          Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            cranial nerve disease 407
              optic nerve disease 214
                optic atrophy 113
                  Hereditary Optic Atrophies 62
                    Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
paths to the root