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: osteochondrosis
Accession: DOID:8125
browse the term
Definition: An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. (DO)
Synonyms: exact_synonym: Koehler disease; Koehler's Disease; Koehlers Disease; Navicular Osteochondrosis; apophysitis; epiphyseal necrosis; epiphysitis; navicular osteochondroses; osteochondritis juvenilis; osteochondroses
primary_id: MESH:D055034
xref: ICD10CM:M92 ; ICD10CM:M93.9 ; ICD9CM:732.6 ; NCI:C34879
For additional species annotation, visit the
Alliance of Genome Resources .
G
Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy
OMIM ClinVar
PMID:25741868 PMID:26633546 PMID:28492532
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
G
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans
OMIM ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:15930420 PMID:17078022 PMID:17394019 PMID:19344236 PMID:25741868 PMID:25809783 PMID:28492532 PMID:29750297 More...
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
G
Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Legg-Calve-Perthes disease
ClinVar
PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
G
Acan
aggrecan
ISS ISO
OMIM:165800 ClinVar Annotator: match by term: Osteochondritis dissecans
MouseDO ClinVar
PMID:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:28492532
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
G
Clec3b
C-type lectin domain family 3, member B
ISS
OMIM:181440
MouseDO
NCBI chr 8:122,810,091...122,817,039
Ensembl chr 8:122,810,149...122,815,835
G
Nfix
nuclear factor I X
ISS
OMIM:181440
MouseDO
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
G
Acan
aggrecan
ISO
ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
OMIM ClinVar
PMID:14216462 PMID:16080123 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 PMID:31841439 More...
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all