Human Phenotype Ontology 
Grandparent Node:
expandNeoplasm by histology (HP:0011792)help
Parent Node:
expandFibrous tissue neoplasm (HP:0012316)help
..Starting node
..expandInclusion body fibromatosis (HP:0025197)help
Term ID: 25197
Name: Inclusion body fibromatosis
Synonym: Digital fibrous tumor of Reye; Digital fibrous tumour of Reye; Infantile digital fibroma; Infantile digital fibromatosis
Definition: A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.
Comments:
Reference: HP:0025197
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFibroma (HP:0010614) help
..expandHistiocytoma (HP:0012315) 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:0025197HP:0025197Inclusion body fibromatosis0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493


Genes (1) :FLNA

Diseases (1) :ORPHA:88630
 

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