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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:geroderma osteodysplasticum
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Accession:DOID:0111266 term browser browse the term
Definition:A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)
Synonyms:exact_synonym: GO;   Walt Disney dwarfism;   geroderma osteodysplastica;   geroderma osteodysplastica hereditaria;   gerodermia osteodysplastica
 primary_id: MESH:C537799
 alt_id: OMIM:231070
 xref: GARD:413;   ORDO:2078
For additional species annotation, visit the Alliance of Genome Resources.



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geroderma osteodysplasticum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by OMIM:231070
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Geroderma osteodysplastica
OMIM
ClinVar
CTD
PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:28492532 NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      geroderma osteodysplasticum 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              Dwarfism 501
                geroderma osteodysplasticum 1
paths to the root