Human Phenotype Ontology 
Grandparent Node:
expandEpidermal thickening (HP:0011368)help
Parent Node:
expandIchthyosis (HP:0008064)help
..Starting node
..expandIchthyosis follicularis (HP:0031291)help
Term ID: 31291
Name: Ichthyosis follicularis
Synonym:
Definition: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.
Comments:
Reference: HP:0031291
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital ichthyosiform erythroderma (HP:0007431) help
..expandGeneralized ichthyosis (HP:0007503) help
..expandLocalized epidermolytic hyperkeratosis (HP:0007559) help
..expandPostnatal-onset ichthyosiform erythroderma (HP:0007395) 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:0031291HP:0031291Ichthyosis follicularis0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21


Genes (1) :SREBF1

Diseases (1) :OMIM:619016
 

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