Human Phenotype Ontology 
..Starting node
..expandMyofibromatosis (HP:0020135)help
Term ID: 20135
Name: Myofibromatosis
Synonym:
Definition: A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.
Comments:
Reference: HP:0020135
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020135HP:0020135Myofibromatosis0NOTCH3 CL E G H48547883OMIM:615293MYOFIBROMATOSIS, INFANTILE, 2; IMF2144
HP:0020135HP:0020135Myofibromatosis0PDGFRB CL E G H51598804OMIM:228550Myofibromatosis, infantile, 128


Genes (2) :NOTCH3 PDGFRB

Diseases (2) :OMIM:615293 OMIM:228550
 

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