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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:geleophysic dysplasia
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Accession:DOID:0111724 term browser browse the term
Definition:A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (DO)
Synonyms:exact_synonym: GPHYSD;   geleophysic dysplasias
 xref: GARD:2449;   MIM:PS231050;   ORDO:2623


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geleophysic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO
ISS		 ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1
OMIM:231050		 OMIM
ClinVar
MouseDO		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Growth Disorders 1021
          geleophysic dysplasia 3
            geleophysic dysplasia 1 1
            geleophysic dysplasia 2 1
            geleophysic dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Skin and Connective Tissue Diseases 7701
        connective tissue disease 5951
          bone disease 4402
            bone development disease 2370
              osteochondrodysplasia 867
                acromicric dysplasia 5
                  geleophysic dysplasia 3
                    geleophysic dysplasia 1 1
                    geleophysic dysplasia 2 1
                    geleophysic dysplasia 3 1
paths to the root