Human Phenotype Ontology 
Grandparent Node:
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Fibrous tissue neoplasm (HP:0012316)help
Grandparent Node:
expand
Soft tissue sarcoma (HP:0030448)help
Parent Node:
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Fibroma (HP:0010614)help
..Starting node
..expand
Angiofibromas (HP:0010615)help
Term ID: 10615
Name: Angiofibromas
Synonym:
Definition: Angiofibroma consist of many often dilated vessels.
Comments:
Reference: HP:0010615
Genes and Diseases:
 
       Child Nodes:
........expandAdenoma sebaceum (HP:0009720) help

 Sister Nodes: 
..expandCardiac fibroma (HP:0010617) help
..expandDesmoid tumors (HP:0100245) help
..expandFibroadenoma of the breast (HP:0010619) help
..expandGingival fibromatosis (HP:0000169) help
..expandLung fibroma (HP:0010616) help
..expandNeurofibromas (HP:0001067) help
..expandOssifying fibroma (HP:0030426) help
..expandOvarian fibroma (HP:0010618) help
..expandSubungual fibromas (HP:0009724) help
..expandUngual fibroma (HP:0100804) 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:0010615HP:0010615Angiofibromas0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010615HP:0010615Angiofibromas0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent2
HP:0010615HP:0010615Angiofibromas0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent102
HP:0010615HP:0010615Angiofibromas0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0010615HP:0010615Angiofibromas0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent1
HP:0010615HP:0010615Angiofibromas0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent
HP:0010615HP:0010615Angiofibromas0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0010615HP:0010615Angiofibromas0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0010615HP:0010615Angiofibromas0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010615HP:0010615Angiofibromas0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010615HP:0010615Angiofibromas0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0010615HP:0010615Angiofibromas0KRT17 CL E G H38726427ORPHA:841Sebocystomatosis23
HP:0010615HP:0010615Angiofibromas0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0010615HP:0010615Angiofibromas0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent462
HP:0010615HP:0010615Angiofibromas0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0010615HP:0010615Angiofibromas0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0010615HP:0010615Angiofibromas0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0010615HP:0010615Angiofibromas0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0010615HP:0010615Angiofibromas0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0010615HP:0010615Angiofibromas0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0010615HP:0010615Angiofibromas0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010615HP:0010615Angiofibromas0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalis5
HP:0010615HP:0010615Angiofibromas0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010615HP:0010615Angiofibromas0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010615HP:0010615Angiofibromas0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010615HP:0010615Angiofibromas0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010615HP:0010615Angiofibromas0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010615HP:0010615Angiofibromas0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0010615HP:0010615Angiofibromas0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010615HP:0010615Angiofibromas0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0010615HP:0010615Angiofibromas0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010615HP:0010615Angiofibromas0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010615HP:0009720Adenoma sebaceum1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0010615HP:0009720Adenoma sebaceum1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0010615HP:0009720Adenoma sebaceum1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0010615HP:0009720Adenoma sebaceum1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0010615HP:0009720Adenoma sebaceum1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0010615HP:0009720Adenoma sebaceum1KRT17 CL E G H38726427ORPHA:841SebocystomatosisHP:0040281 - Very frequent23
HP:0010615HP:0009720Adenoma sebaceum1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0010615HP:0009720Adenoma sebaceum1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0010615HP:0009720Adenoma sebaceum1MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040281 - Very frequent1819
HP:0010615HP:0009720Adenoma sebaceum1MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040281 - Very frequent2162
HP:0010615HP:0009720Adenoma sebaceum1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0010615HP:0009720Adenoma sebaceum1MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040281 - Very frequent2232
HP:0010615HP:0009720Adenoma sebaceum1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0010615HP:0009720Adenoma sebaceum1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0010615HP:0009720Adenoma sebaceum1PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040281 - Very frequent5
HP:0010615HP:0009720Adenoma sebaceum1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0010615HP:0009720Adenoma sebaceum1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0010615HP:0009720Adenoma sebaceum1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0010615HP:0009720Adenoma sebaceum1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0010615HP:0009720Adenoma sebaceum1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0010615HP:0009720Adenoma sebaceum1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0010615HP:0009720Adenoma sebaceum1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0010615HP:0009720Adenoma sebaceum1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1


Genes (25) :AKT1 CDKN1A CDKN1B CDKN2B CDKN2C HRAS IFNG KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NRAS PIK3CA PLCD1 PTEN SDHB SDHC SDHD SEC23B TSC1 TSC2 USF3

Diseases (12) :ORPHA:201 ORPHA:652 ORPHA:276152 ORPHA:2612 ORPHA:805 OMIM:613254 ORPHA:841 OMIM:131100 OMIM:158320 ORPHA:587 ORPHA:2387 OMIM:191100
 

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