Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Grandparent Node:
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Neoplasm of the skin (HP:0008069)help
Parent Node:
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Skin appendage neoplasm (HP:0012842)help
..Starting node
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Pilomatrixoma (HP:0030434)help
Term ID: 30434
Name: Pilomatrixoma
Synonym:
Definition: Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.
Comments:
Reference: HP:0030434
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandApocrine hidrocystoma (HP:0031454) help
..expandCylindroma (HP:0031024) help
..expandFollicular infundibulum tumor (HP:0031548) help
..expandHair follicle neoplasm (HP:0012843) help
..expandPoroma (HP:0031405) help
..expandSebaceous gland carcinoma (HP:0030410) 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:0030434HP:0030434Pilomatrixoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0030434HP:0030434Pilomatrixoma0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0030434HP:0030434Pilomatrixoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0030434HP:0030434Pilomatrixoma0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0030434HP:0030434Pilomatrixoma0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0030434HP:0030434Pilomatrixoma0CTNNB1 CL E G H14992514OMIM:132600PILOMATRIXOMA88
HP:0030434HP:0030434Pilomatrixoma0CTNNB1 CL E G H14992514ORPHA:91414Pilomatrixoma88
HP:0030434HP:0030434Pilomatrixoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare670
HP:0030434HP:0030434Pilomatrixoma0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0030434HP:0030434Pilomatrixoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare


Genes (6) :APC CREBBP CTNNB1 DICER1 EP300 KEAP1

Diseases (9) :ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:353281 ORPHA:353277 OMIM:132600 ORPHA:91414 ORPHA:276399 ORPHA:353284
 

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