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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:Infantile Capillary Hemangioma
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Accession:DOID:9008660 term browser browse the term
Synonyms:exact_synonym: HCI;   KDR-RELATED CONDITION;   hereditary capillary hemangioma
 broad_synonym: ANTXR1-RELATED CONDITION
 related_synonym: capillary infantile hemangioma, susceptibility to
 primary_id: MESH:C535860
 alt_id: MIM:602089


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show annotations for term's descendants           Sort by:
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM
PMID:18931684 PMID:25741868 PMID:28492532 NCBI chrNW_004624762:4,051,479...4,377,237
Ensembl chrNW_004624762:4,128,127...4,377,278
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar
PMID:11807987 PMID:25741868 PMID:28492532 NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    syndrome 9722
      Hereditary Neoplastic Syndromes 1377
        Infantile Capillary Hemangioma 9
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        peripheral nervous system disease 4064
          neuropathy 3888
            neuromuscular disease 2997
              muscular disease 2072
                muscle tissue disease 1249
                  Muscle Tissue Neoplasms 183
                    musculoskeletal system benign neoplasm 126
                      connective tissue benign neoplasm 77
                        bone benign neoplasm 31
                          capillary hemangioma 28
                            Infantile Capillary Hemangioma 9
paths to the root