Human Phenotype Ontology 
Grandparent Node:
expandAbnormal bone ossification (HP:0011849)help
Parent Node:
expandAbnormal enchondral ossification (HP:0003336)help
..Starting node
..expandCalcific stippling of infantile cartilaginous skeleton (HP:0005841)help
Term ID: 5841
Name: Calcific stippling of infantile cartilaginous skeleton
Synonym:
Definition:
Comments:
Reference: HP:0005841
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal epiphyseal ossification (HP:0010656) help
..expandAbnormal foot bone ossification (HP:0010675) help
..expandAbnormal hand bone ossification (HP:0010660) help
..expandAbnormal humeral ossification (HP:0012791) help
..expandAbnormal ossification involving the femoral head and neck (HP:0009107) help
..expandAbnormal pelvis bone ossification (HP:0009106) help
..expandAbnormal rib ossification (HP:0012306) help
..expandAbnormal sternal ossification (HP:0011863) help
..expandAbnormally ossified vertebrae (HP:0100569) help
..expandDelayed patellar ossification (HP:0006454) help
..expandIrregular ossification of the radial metaphysis (HP:0004020) 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:0005841HP:0005841Calcific stippling of infantile cartilaginous skeleton0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72


Genes (1) :PEX7

Diseases (1) :OMIM:215100
 

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