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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: OMIM:PS142700
For additional species annotation, visit the Alliance of Genome Resources.



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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 dislocation of hip 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 dislocation of hip ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,799
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 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 C16h4orf47 similar to human chromosome 4 open reading frame 47 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 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 OMIM
ClinVar
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 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 ClinVar Annotator: match by term: CODAS syndrome OMIM
ClinVar
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 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 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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      musculoskeletal system disease 7212
        Musculoskeletal Abnormalities 2758
          Congenital Hip Dislocation 9
            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
            Developmental Dysplasia of the Hip 1 1
            Developmental Dysplasia of the Hip 2 0
            Dwarfism 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
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Musculoskeletal Abnormalities 2758
            Congenital Hip Dislocation 9
              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
              Developmental Dysplasia of the Hip 1 1
              Developmental Dysplasia of the Hip 2 0
              Dwarfism 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
paths to the root