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
Accession: DOID:9008660
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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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
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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
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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
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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
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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 PMID:28492532 More...
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
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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
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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
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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
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:26957058
RGD:155663370
NCBI chrNW_004624754:15,929,414...15,943,637
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all