Human Phenotype Ontology 
Grandparent Node:
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Hemangioma (HP:0001028)help
Parent Node:
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Hemangiomatosis (HP:0007461)help
..Starting node
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Visceral angiomatosis (HP:0100761)help
Term ID: 100761
Name: Visceral angiomatosis
Synonym:
Definition:
Comments:
Reference: HP:0100761
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPulmonary capillary hemangiomatosis (HP:0005954) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100761HP:0100761Visceral angiomatosis0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0100761HP:0100761Visceral angiomatosis0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0100761HP:0100761Visceral angiomatosis0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0100761HP:0100761Visceral angiomatosis0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0100761HP:0100761Visceral angiomatosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0100761HP:0100761Visceral angiomatosis0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0100761HP:0100761Visceral angiomatosis0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0100761HP:0100761Visceral angiomatosis0IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0100761HP:0100761Visceral angiomatosis0IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0100761HP:0100761Visceral angiomatosis0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0100761HP:0100761Visceral angiomatosis0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0100761HP:0100761Visceral angiomatosis0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0100761HP:0100761Visceral angiomatosis0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0100761HP:0100761Visceral angiomatosis0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0100761HP:0100761Visceral angiomatosis0PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0100761HP:0100761Visceral angiomatosis0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0100761HP:0100761Visceral angiomatosis0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0100761HP:0100761Visceral angiomatosis0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78


Genes (16) :ACVRL1 AKT1 ENG FGFR1 FGFR2 GDF2 GNAQ IDH1 IDH2 KRAS PIK3CA PTEN PTH1R SLC26A2 SMAD4 TEK

Diseases (11) :ORPHA:774 ORPHA:744 ORPHA:2396 ORPHA:1555 ORPHA:3205 ORPHA:296 ORPHA:60040 ORPHA:109 ORPHA:137608 ORPHA:628 ORPHA:1059
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.