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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:osteogenesis imperfecta type 4
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Accession:DOID:0110340 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI, type IV;   OI4;   osteogenesis imperfecta type IV;   osteogenesis imperfecta with normal sclera;   osteogenesis imperfecta with normal sclerae
 broad_synonym: osteogenesis imperfecta, type III/IV
 primary_id: MESH:C536045
 alt_id: OMIM:166220;   RDO:0001459
 xref: GARD:8696;   NCI:C98576
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
PMID:1718984, PMID:2037280, PMID:2745420, PMID:2794057, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8786074, PMID:8808594, PMID:9007315, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10417276, PMID:10931857, PMID:11317364, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:21884818, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:26627451, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28492532, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by OMIM:166220
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: OI type IV
OMIM
ClinVar
PMID:2064612, PMID:2897363, PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:7881420, PMID:8094076, PMID:8218237, PMID:8456807, PMID:8786065, PMID:8829649, PMID:8829655, PMID:9016532, PMID:9143923, PMID:9268111, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11836364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV ClinVar PMID:17101317, PMID:21239990, PMID:21520333, PMID:25741868, PMID:25944380, PMID:26951660, PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 4 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 4 3
paths to the root

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