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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:achondroplasia
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Accession:DOID:4480 term browser browse the term
Definition:An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. (DO)
Synonyms:exact_synonym: ACH;   Achondroplasias;   Skeleton Skin Brain Syndrome;   Skeleton-Skin-Brain Syndromes;   achondroplastic physique;   chondrodystrophia;   osteosclerosis congenita
 primary_id: MESH:D000130
 alt_id: OMIM:100800
 xref: GARD:8173;   ICD10CM:Q77.4;   NCI:C34345;   ORDO:15
For additional species annotation, visit the Alliance of Genome Resources.


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achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 severity ISO DNA:mutation:cds:p.K650M(human) OMIM
RGD
PMID:10377013 RGD:11568054 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO DNA:missense mutation:cds:p.L885R (mouse) RGD PMID:15722353 RGD:1580771 NCBI chrNW_004955472:506,351...523,647
Ensembl chrNW_004955472:506,351...523,316
JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO OMIM NCBI chrNW_004955438:14,327,400...14,394,022
Ensembl chrNW_004955438:14,322,576...14,394,022
JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO OMIM NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360
JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
SADDAN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
thanatophoric dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:transition:CDS:742C>T, amino acid R248C
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.S365C (mouse)
protein:increased expression:necleus,chondrocyte:
RGD
CTD
PMID:9302269 PMID:10073901 PMID:11181569 PMID:19855393 RGD:11568030 RGD:12910972 RGD:2289863 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
Torrance type platyspondylic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Lethal skeletal dysplasia ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25741868 PMID:26940150 NCBI chrNW_004955408:29,837,982...29,847,891
Ensembl chrNW_004955408:29,838,075...29,849,357
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11869
    disease of anatomical entity 11423
      endocrine system disease 3918
        Dwarfism 440
          achondroplasia 6
            Achondrogenesis, Type 3 0
            Achondrogenesis, Type 4 0
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Achondroplastic Dwarfism 1
            Baby Rattle Pelvic Dysplasia 0
            Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
            Pseudoachondroplastic Dysplasia 2 0
            SADDAN 1
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
            achondrogenesis type IA 1
            achondrogenesis type IB 1
            achondrogenesis type II 1
            pseudoachondroplasia 0
            thanatophoric dysplasia + 3
Path 2
Term Annotations click to browse term
  disease 11869
    disease of anatomical entity 11423
      musculoskeletal system disease 4918
        connective tissue disease 3438
          bone disease 2902
            bone development disease 1230
              Dwarfism 440
                achondroplasia 6
                  Achondrogenesis, Type 3 0
                  Achondrogenesis, Type 4 0
                  Achondroplasia and Swiss Type Agammaglobulinemia 0
                  Achondroplastic Dwarfism 1
                  Baby Rattle Pelvic Dysplasia 0
                  Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
                  Pseudoachondroplastic Dysplasia 2 0
                  SADDAN 1
                  Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
                  achondrogenesis type IA 1
                  achondrogenesis type IB 1
                  achondrogenesis type II 1
                  pseudoachondroplasia 0
                  thanatophoric dysplasia + 3
paths to the root