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; hereditary capillary hemangioma
related_synonym: capillary infantile hemangioma, susceptibility to
primary_id: MESH:C535860
alt_id: OMIM:602089
G
Antxr1
ANTXR cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD ClinVar OMIM
PMID:18931684 PMID:25741868 PMID:28492532
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
G
Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
G
Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11807987 PMID:25741868 PMID:28492532
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
G
Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD ClinVar OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:28492532
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
G
Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
G
Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
G
Vegfa
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:26957058
RGD:155663370
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all