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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 Acan aggrecan ISS OMIM:100800 MouseDO NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO DNA:missense mutation:cds:p.G380R (human)
ClinVar Annotator: match by term: Skeleton skin brain syndrome
ClinVar Annotator: match by term: Achondroplasia
DNA:mutation:cds:p.K650M(human)
ClinVar Annotator: match by OMIM:100800
ClinVar
OMIM
PMID:1908846 PMID:4697848 PMID:7649548 PMID:7670477 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9950359 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10587515 PMID:10696568 PMID:10777366 PMID:10861678 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20624921 PMID:21324899 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23149434 PMID:23165795 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28492532 PMID:32238909, PMID:8078586, PMID:10377013 RGD:1598937, RGD:11568054 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS
DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800
MouseDO PMID:15722353 RGD:1580771 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:100800 MouseDO NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISS OMIM:100800 MouseDO NCBI chr14:104,268,362...104,290,206
Ensembl chr14:104,191,517...104,290,456
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 ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar Annotator: match by OMIM:200600
OMIM
ClinVar
PMID:200899 PMID:2008997 PMID:20089971 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr 6:125,741,520...125,812,926
Ensembl chr 6:125,742,796...125,812,517
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 ClinVar Annotator: match by term: Achondrogenesis Fraccaro type
ClinVar Annotator: match by term: Achondrogenesis, type IB
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:600972
OMIM
ClinVar
PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831, PMID:8528239 RGD:11068488 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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 ClinVar Annotator: match by term: Chondrogenesis imperfecta
ClinVar Annotator: match by term: Achondrogenesis type II
ClinVar Annotator: match by term: Achondrogenesis, type II
ClinVar Annotator: match by OMIM:200610
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:8325895 PMID:9101290 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12939326 PMID:15054848 PMID:17994563 PMID:20179744 PMID:22496037 PMID:22522174 PMID:23592912 PMID:25741868 PMID:26747767 PMID:27390512 PMID:28492532 PMID:28559085 PMID:29453956 PMID:30181686 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
pseudoachondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:177170
OMIM
ClinVar
CTD
PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9887340 PMID:9921895 PMID:11746044 PMID:11746045 PMID:11782471 PMID:11968079 PMID:12189245 PMID:12483304 PMID:12768438 PMID:24595329 PMID:25741868 PMID:28492532 NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
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 ClinVar Annotator: match by term: SADDAN dysplasia OMIM
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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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:missense mutation:exon:p.S365C (mouse)
protein:increased expression:necleus,chondrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:19855393, PMID:10073901, PMID:11181569, PMID:9302269 RGD:2289863, RGD:12910972, RGD:11568030 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chr 5:155,812,096...155,913,751 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 ClinVar Annotator: match by OMIM:187600
ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
ClinVar
OMIM
PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8845844 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:9843049 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10671061 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:11879084 PMID:12009017 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17875876 PMID:18076102 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28249712 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
Thanatophoric Dysplasia, Type II 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: Thanatophoric dysplasia with Kleeblattschaedel
ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9207791 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:11879084 PMID:12624096 PMID:12833394 PMID:15772091 PMID:16752380 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:19855393 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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 chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Platyspondylic lethal skeletal dysplasia Torrance type
DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)
ClinVar Annotator: match by OMIM:151210
OMIM
ClinVar
PMID:14729840 PMID:15266623 PMID:17726487 PMID:25741868 PMID:28492532, PMID:21538020 RGD:11667102 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        Dwarfism 486
          achondroplasia 11
            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 1
            thanatophoric dysplasia + 4
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              Dwarfism 486
                achondroplasia 11
                  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 1
                  thanatophoric dysplasia + 4
paths to the root