Human Phenotype Ontology 
Grandparent Node:
expandLocalized skin lesion (HP:0011355)help
Parent Node:
expandSkin nodule (HP:0200036)help
..Starting node
..expandOsteoma cutis (HP:0025027)help
Term ID: 25027
Name: Osteoma cutis
Synonym: Cutaneous osteosis; Miliary osteoma; Osteomatosis
Definition: The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.
Comments:
Reference: HP:0025027
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcrokeratosis (HP:0200016) help
..expandHyperpigmented nodule (HP:0025529) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandSubcutaneous nodule (HP:0001482) help
..expandUmbilicated nodule (HP:0025103) help
..expandYellow nodule (HP:0025554) 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:0025027HP:0025027Osteoma cutis0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0025027HP:0025027Osteoma cutis0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0025027HP:0025027Osteoma cutis0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0025027HP:0025027Osteoma cutis0GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101


Genes (1) :GNAS

Diseases (4) :OMIM:166350 ORPHA:79443 ORPHA:79444 ORPHA:79445
 

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