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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:Congenital Hip Dislocation
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Accession:DOID:9005560 term browser browse the term
Definition:Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.
Synonyms:exact_synonym: CDH;   congenital dislocation of hip;   congenital dysplasia of the hip;   congenital hip dislocations;   congenital hip displacement;   congenital hip displacements;   congenital hip dysplasia;   congenital hip dysplasia, nonsyndromic;   congenital hip dysplasias
 primary_id: MESH:D006618
 xref: EFO:1000648



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Congenital Hip Dislocation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Congenital hip dislocation ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital hip dislocation ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: 3MC syndrome 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2389793 PMID:21228277 PMID:25741868 PMID:25741905 PMID:26428751 More... NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition
OMIM
CTD
ClinVar
PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
JBrowse link
developmental dysplasia of the hip 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: Acetabular dysplasia ClinVar PMID:8244341 PMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
developmental dysplasia of the hip 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::rs143383(human)
CTD
RGD
PMID:18947434 PMID:18947434 RGD:12738201 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
Developmental Dysplasia of the Hip 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Developmental dysplasia of the hip 3 OMIM
ClinVar
PMID:36067312 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        Musculoskeletal Abnormalities 3287
          Congenital Hip Dislocation 11
            3MC syndrome 2 3
            Beukes hip dysplasia 2
            CODAS syndrome 1
            Camptodactyly Syndrome Guadalajara Type 2 0
            Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
            Coxoauricular Syndrome 0
            Dwarfism with Tall Vertebrae 0
            Ho Kaufman Mcalister Syndrome 0
            Infantile Multisystem Neurologic Disease with Osseous Fragility 0
            Keratoconus and Congenital Hip Dysplasia 0
            Proportionate Dwarfism with Hip Dislocation 0
            developmental dysplasia of the hip + 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Musculoskeletal Abnormalities 3287
            Congenital Hip Dislocation 11
              3MC syndrome 2 3
              Beukes hip dysplasia 2
              CODAS syndrome 1
              Camptodactyly Syndrome Guadalajara Type 2 0
              Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
              Coxoauricular Syndrome 0
              Dwarfism with Tall Vertebrae 0
              Ho Kaufman Mcalister Syndrome 0
              Infantile Multisystem Neurologic Disease with Osseous Fragility 0
              Keratoconus and Congenital Hip Dysplasia 0
              Proportionate Dwarfism with Hip Dislocation 0
              developmental dysplasia of the hip + 3
paths to the root