Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
..Starting node
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Skin appendage neoplasm (HP:0012842)help
Term ID: 12842
Name: Skin appendage neoplasm
Synonym: Skin adnexal neoplasm; Skin adnexal tumor; Skin adnexal tumour
Definition: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
Comments:
Reference: HP:0012842
Genes and Diseases:
 
       Child Nodes:
........expandHair follicle neoplasm (HP:0012843) help
................... HP:0012844 Trichilemmoma
................... HP:0025367 Trichoepithelioma
........expandSebaceous gland carcinoma (HP:0030410) help
........expandPilomatrixoma (HP:0030434) help
........expandCylindroma (HP:0031024) help
........expandPoroma (HP:0031405) help
........expandApocrine hidrocystoma (HP:0031454) help
........expandFollicular infundibulum tumor (HP:0031548) help

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) 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
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) 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:0012842HP:0012842Skin appendage neoplasm0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0012842HP:0012842Skin appendage neoplasm0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0012842HP:0012842Skin appendage neoplasm0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0012842HP:0012842Skin appendage neoplasm0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0012842HP:0012842Skin appendage neoplasm0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0012842HP:0012842Skin appendage neoplasm0CTNNB1 CL E G H14992514OMIM:132600PILOMATRIXOMA88
HP:0012842HP:0012842Skin appendage neoplasm0CTNNB1 CL E G H14992514ORPHA:91414Pilomatrixoma88
HP:0012842HP:0012842Skin appendage neoplasm0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0012842HP:0012842Skin appendage neoplasm0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0012842HP:0012842Skin appendage neoplasm0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0012842HP:0012842Skin appendage neoplasm0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0012842HP:0012842Skin appendage neoplasm0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0012842HP:0012842Skin appendage neoplasm0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0012842HP:0012842Skin appendage neoplasm0KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 41
HP:0012842HP:0012842Skin appendage neoplasm0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0012842HP:0012842Skin appendage neoplasm0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0012842HP:0012842Skin appendage neoplasm0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0012842HP:0012842Skin appendage neoplasm0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0012842HP:0012842Skin appendage neoplasm0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0012842HP:0031548Follicular infundibulum tumor1 CL E G H
HP:0012842HP:0031024Cylindroma1 CL E G H
HP:0012842HP:0030434Pilomatrixoma1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0012842HP:0030434Pilomatrixoma1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0012842HP:0030434Pilomatrixoma1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0012842HP:0030434Pilomatrixoma1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0012842HP:0030434Pilomatrixoma1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0012842HP:0030434Pilomatrixoma1CTNNB1 CL E G H14992514ORPHA:91414Pilomatrixoma88
HP:0012842HP:0030434Pilomatrixoma1CTNNB1 CL E G H14992514OMIM:132600PILOMATRIXOMA88
HP:0012842HP:0030434Pilomatrixoma1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare670
HP:0012842HP:0030434Pilomatrixoma1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0012842HP:0032228Trichodiscoma1FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0012842HP:0012843Hair follicle neoplasm1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0012842HP:0012843Hair follicle neoplasm1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0012842HP:0030434Pilomatrixoma1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare
HP:0012842HP:0012843Hair follicle neoplasm1KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 41
HP:0012842HP:0030410Sebaceous gland carcinoma1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0012842HP:0030410Sebaceous gland carcinoma1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0012842HP:0012843Hair follicle neoplasm1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0012842HP:0012843Hair follicle neoplasm1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0012842HP:0031454Apocrine hidrocystoma1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0012842HP:0031405Poroma1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0012842HP:0025367Trichoepithelioma2 CL E G H
HP:0012842HP:0012844Trichilemmoma2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0012842HP:0012844Trichilemmoma2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0012842HP:0012844Trichilemmoma2KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 4.1
HP:0012842HP:0012844Trichilemmoma2PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040282 - Frequent948
HP:0012842HP:0012844Trichilemmoma2SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0012842HP:0012846Multiple trichilemmomata3 CL E G H
HP:0012842HP:0012845Single trichilemmoma3 CL E G H


Genes (15) :APC CREBBP CTNNB1 DICER1 EP300 FLCN GJB2 GJB6 KEAP1 KLLN MLH1 MSH2 PTEN SEC23B WNT10A

Diseases (16) :ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:353281 ORPHA:353277 OMIM:132600 ORPHA:91414 ORPHA:276399 ORPHA:353284 OMIM:135150 ORPHA:477 OMIM:615107 OMIM:158320 ORPHA:65285 OMIM:616858 OMIM:224750
 

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