Human Phenotype Ontology 
Grandparent Node:
expandAbnormal skeletal morphology (HP:0011842)help
Parent Node:
expandAbnormal bone structure (HP:0003330)help
..Starting node
..expandAbnormal bone collagen fibril morphology (HP:0011862)help
Term ID: 11862
Name: Abnormal bone collagen fibril morphology
Synonym:
Definition: Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.
Comments:
Reference: HP:0011862
Genes and Diseases:
 
       Child Nodes:
........expandType 1 collagen overmodification (HP:0003784) help

 Sister Nodes: 
..expandAbnormal bone ossification (HP:0011849) help
..expandAbnormal cortical bone morphology (HP:0003103) help
..expandAbnormal periosteum morphology (HP:0030313) help
..expandAbnormal trabecular bone morphology (HP:0100671) help
..expandBone cyst (HP:0012062) help
..expandConstricted radius (HP:0003976) help
..expandDysplastic patella (HP:0006446) help
..expandFibrous dysplasia of the bones (HP:0010734) help
..expandFractured forearm bones (HP:0003961) help
..expandOsteolysis (HP:0002797) help
..expandRadial dysplasia (HP:0006433) 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:0011862HP:0011862Abnormal bone collagen fibril morphology0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII43
HP:0011862HP:0003784Type 1 collagen overmodification1P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43


Genes (1) :P3H1

Diseases (1) :OMIM:610915
 

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