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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:skin hemangioma
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Accession:DOID:471 term browser browse the term
Synonyms:exact_synonym: angioma of the skin;   angiomatous naevus of skin
 xref: NCI:C4905
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
skin hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Skin hemangioma ClinVar PMID:33912852 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
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 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
verrucous keratotic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k3 mitogen activated protein kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Verrucous venous malformation ClinVar PMID:25741868 NCBI chr10:91,020,174...91,088,852
Ensembl chr10:91,020,174...91,088,848 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
ISS		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        Skin Neoplasms 403
          skin benign neoplasm 195
            skin hemangioma 32
              angiokeratoma + 2
              angioma serpiginosum + 0
              capillary hemangioma + 28
              hemangioma of subcutaneous tissue 0
              scrotal angioma 0
              senile angioma 0
              skin epithelioid hemangioma 0
              verrucous keratotic hemangioma 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Skin Neoplasms 403
                skin benign neoplasm 195
                  skin hemangioma 32
                    angiokeratoma + 2
                    angioma serpiginosum + 0
                    capillary hemangioma + 28
                    hemangioma of subcutaneous tissue 0
                    scrotal angioma 0
                    senile angioma 0
                    skin epithelioid hemangioma 0
                    verrucous keratotic hemangioma 1
paths to the root