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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:cavernous hemangioma
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Accession:DOID:483 term browser browse the term
Definition:A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system.
Synonyms:exact_synonym: Cavernoma;   Cavernous Angioma;   Cavernous Hemangiomas;   Cavernous haemangioma;   Strawberry Hemangioma;   Strawberry Hemangiomas
 primary_id: MESH:D006392;   RDO:0002751
 xref: ICD10CM:D18.0;   NCI:C3086
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Cavernous angioma ClinVar PMID:30311386 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614, PMID:23595507, PMID:24466005, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:30311386 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020, PMID:25525273, PMID:25741868, PMID:28492532 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by OMIM:116860
ClinVar
OMIM
PMID:3393196, PMID:7898703, PMID:9065560, PMID:10508515, PMID:10545614, PMID:10814716, PMID:11161805, PMID:11222804, PMID:11914398, PMID:11959162, PMID:12404106, PMID:12810002, PMID:12854741, PMID:15079030, PMID:17187287, PMID:17211633, PMID:18383588, PMID:19088123, PMID:19454328, PMID:20419355, PMID:20798775, PMID:21029238, PMID:23584803, PMID:23595507, PMID:24401931, PMID:24466005, PMID:24689081, PMID:24721395, PMID:25525273, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28645800, PMID:28745674, PMID:30161288, PMID:30311386, PMID:14755725, PMID:15079030 RGD:1358458, RGD:1598379 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196, PMID:7898703, PMID:9065560, PMID:10508515, PMID:10545614, PMID:10814716, PMID:11222804, PMID:11310633, PMID:11914398, PMID:11941540, PMID:12404106, PMID:12854741, PMID:17562932, PMID:19088123, PMID:19454328, PMID:24401931, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908, PMID:14624391, PMID:14740320, PMID:15122722, PMID:17160895, PMID:18060436, PMID:18300272, PMID:19088123, PMID:19088124, PMID:20419355, PMID:23595507, PMID:24466005, PMID:25525273, PMID:25741868, PMID:26467025, PMID:27153162, PMID:27561926, PMID:27792856, PMID:28492532, PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895, PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491, PMID:18035376, PMID:18060436, PMID:20623299, PMID:23485406, PMID:23595507, PMID:23801932, PMID:25354366, PMID:25741868, PMID:26896283, PMID:28492532, PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436, PMID:20623299, PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        hemorrhagic disease 611
          vascular hemostatic disease 298
            cavernous hemangioma 14
              Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 1
              cavernous hemangioma of colon 0
              cavernous hemangioma of face 0
              cavernous hemangioma of orbit 0
              cerebral cavernous malformation + 12
              dermal unilateral segmental cavernous angioma 0
              giant hemangioma 0
              intracranial cavernous angioma 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          blood coagulation disease 624
            hemorrhagic disease 611
              vascular hemostatic disease 298
                cavernous hemangioma 14
                  Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 1
                  cavernous hemangioma of colon 0
                  cavernous hemangioma of face 0
                  cavernous hemangioma of orbit 0
                  cerebral cavernous malformation + 12
                  dermal unilateral segmental cavernous angioma 0
                  giant hemangioma 0
                  intracranial cavernous angioma 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.