Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the skin (HP:0000951)help
Parent Node:
expandAbnormality of skin morphology (HP:0011121)help
..Starting node
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512)help
Term ID: 31512
Name: Abnormal cutaneous collagen fibril morphology
Synonym:
Definition:
Comments:
Reference: HP:0031512
Genes and Diseases:
 
       Child Nodes:
........expandLuse bodies (HP:0031513) help
........expandCauliflower deformity of dermal collagen fibrils (HP:0031519) help

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) help
..expandThickened skin (HP:0001072) 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:0031512HP:0031512Abnormal cutaneous collagen fibril morphology0 CL E G H
HP:0031512HP:0031519Cauliflower deformity of dermal collagen fibrils1 CL E G H
HP:0031512HP:0031513Luse bodies1 CL E G H


Genes (0) :

Diseases (0) :
 

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