Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the skin (HP:0000951)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Abnormality of facial soft tissue (HP:0011799)help
Parent Node:
expand
Angiofibromas (HP:0010615)help
Parent Node:
expand
Neoplasm of the skin (HP:0008069)help
..Starting node
..expand
Adenoma sebaceum (HP:0009720)help
Term ID: 9720
Name: Adenoma sebaceum
Synonym: Facial angiofibromas; Sebaceous adenoma; Sebaceous adenomas
Definition: The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
Comments:
Reference: HP:0009720
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous mastocytosis (HP:0200151) help
..expandCutaneous melanoma (HP:0012056) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandNeurofibromas (HP:0001067) help
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009720HP:0009720Adenoma sebaceum0AKT1 CL E G H207201ORPHA1417391164730
HP:0009720HP:0009720Adenoma sebaceum0AKT1 CL E G H207201ORPHA1380391164730
HP:0009720HP:0009720Adenoma sebaceum0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0009720HP:0009720Adenoma sebaceum0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0009720HP:0009720Adenoma sebaceum0KLLN CL E G H100144748201ORPHA127037212612105
HP:0009720HP:0009720Adenoma sebaceum0KLLN CL E G H100144748201ORPHA124837212612105
HP:0009720HP:0009720Adenoma sebaceum0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13416407190070
HP:0009720HP:0009720Adenoma sebaceum0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13316407190070
HP:0009720HP:0009720Adenoma sebaceum0KRT17 CL E G H3872841Bd syndromeORPHA1596427148069
HP:0009720HP:0009720Adenoma sebaceum0KRT17 CL E G H3872841Bd syndromeORPHA1546427148069
HP:0009720HP:0009720Adenoma sebaceum0MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM115597010613733
HP:0009720HP:0009720Adenoma sebaceum0MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM114117010613733
HP:0009720HP:0009720Adenoma sebaceum0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA137637127120436
HP:0009720HP:0009720Adenoma sebaceum0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA135407127120436
HP:0009720HP:0009720Adenoma sebaceum0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM137637127120436
HP:0009720HP:0009720Adenoma sebaceum0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM135407127120436
HP:0009720HP:0009720Adenoma sebaceum0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA149647325609309
HP:0009720HP:0009720Adenoma sebaceum0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA146077325609309
HP:0009720HP:0009720Adenoma sebaceum0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM149647325609309
HP:0009720HP:0009720Adenoma sebaceum0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM146077325609309
HP:0009720HP:0009720Adenoma sebaceum0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA162197329600678
HP:0009720HP:0009720Adenoma sebaceum0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA157177329600678
HP:0009720HP:0009720Adenoma sebaceum0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12267989164790
HP:0009720HP:0009720Adenoma sebaceum0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12127989164790
HP:0009720HP:0009720Adenoma sebaceum0PIK3CA CL E G H5290201ORPHA16138975171834
HP:0009720HP:0009720Adenoma sebaceum0PIK3CA CL E G H5290201ORPHA15448975171834
HP:0009720HP:0009720Adenoma sebaceum0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1699060602142
HP:0009720HP:0009720Adenoma sebaceum0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1669060602142
HP:0009720HP:0009720Adenoma sebaceum0PTEN CL E G H5728201ORPHA124169588601728
HP:0009720HP:0009720Adenoma sebaceum0PTEN CL E G H5728201ORPHA122469588601728
HP:0009720HP:0009720Adenoma sebaceum0SDHB CL E G H6390201ORPHA192610681185470
HP:0009720HP:0009720Adenoma sebaceum0SDHB CL E G H6390201ORPHA182410681185470
HP:0009720HP:0009720Adenoma sebaceum0SDHC CL E G H6391201ORPHA157510682602413
HP:0009720HP:0009720Adenoma sebaceum0SDHC CL E G H6391201ORPHA152610682602413
HP:0009720HP:0009720Adenoma sebaceum0SDHD CL E G H6392201ORPHA150710683602690
HP:0009720HP:0009720Adenoma sebaceum0SDHD CL E G H6392201ORPHA144210683602690
HP:0009720HP:0009720Adenoma sebaceum0SEC23B CL E G H10483201ORPHA123610702610512
HP:0009720HP:0009720Adenoma sebaceum0SEC23B CL E G H10483201ORPHA122210702610512
HP:0009720HP:0009720Adenoma sebaceum0TSC1 CL E G H7248191100Tuberous sclerosis 1191100C1854465OMIM1318512362605284
HP:0009720HP:0009720Adenoma sebaceum0TSC1 CL E G H7248191100Tuberous sclerosis 1191100C1854465OMIM1285712362605284
HP:0009720HP:0009720Adenoma sebaceum0TSC2 CL E G H7249613254Tuberous sclerosis 2613254C1860707OMIM1731612363191092
HP:0009720HP:0009720Adenoma sebaceum0TSC2 CL E G H7249613254Tuberous sclerosis 2613254C1860707OMIM1662912363191092
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (19) :AKT1 HRAS KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NRAS PIK3CA PLCD1 PTEN SDHB SDHC SDHD SEC23B TSC1 TSC2

Diseases (9) :201 2612 841 131100 587 158320 2387 191100 613254
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.