Human Phenotype Ontology 
Grandparent Node:
expandAbnormal metaphysis morphology (HP:0000944)help
Parent Node:
expandMetaphyseal striations (HP:0031367)help
..Starting node
..expandOsteopathia striata (HP:0010740)help
Term ID: 10740
Name: Osteopathia striata
Synonym:
Definition: A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
Comments:
Reference: HP:0010740
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGrowth arrest lines (HP:0031164) 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:0010740HP:0010740Osteopathia striata0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0010740HP:0010740Osteopathia striata0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0010740HP:0010740Osteopathia striata0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0010740HP:0010740Osteopathia striata0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0010740HP:0010740Osteopathia striata0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8


Genes (5) :AMER1 PORCN RAB3GAP2 TONSL WDR26

Diseases (5) :OMIM:300373 OMIM:305600 OMIM:212720 ORPHA:93357 ORPHA:513456
 

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