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ONTOLOGY REPORT - ANNOTATIONS


Term:achondroplasia
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Accession:DOID:4480 term browser browse the term
Definition:An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Synonyms:exact_synonym: ACH;   Achondroplasias;   Achondroplastic physique;   Chondrodystrophia;   Skeleton Skin Brain Syndrome;   Skeleton-Skin-Brain Syndromes;   osteosclerosis congenita
 primary_id: MESH:D000130
 alt_id: OMIM:100800;   RDO:0000012
 xref: GARD:8173;   ICD10CM:Q77.4;   NCI:C34345
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
achondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:13592920
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:1598937
RGD:8554872
RGD:11568054
RGD:7240710
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:1580771
RGD:13592920
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
G Spred2 sprouty-related, EVH1 domain containing 2 JBrowse link 14 104,268,362 104,290,206 RGD:13592920
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:7240710
RGD:8554872
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
pseudoachondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173
SADDAN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
Torrance type platyspondylic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11667102

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        Dwarfism 309
          achondroplasia 11
            Achondrogenesis, Type 3 0
            Achondrogenesis, Type 4 0
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Achondroplastic Dwarfism 0
            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 1
            thanatophoric dysplasia + 4
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              Dwarfism 309
                achondroplasia 11
                  Achondrogenesis, Type 3 0
                  Achondrogenesis, Type 4 0
                  Achondroplasia and Swiss Type Agammaglobulinemia 0
                  Achondroplastic Dwarfism 0
                  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 1
                  thanatophoric dysplasia + 4
paths to the root

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