Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal axial skeleton morphology (HP:0009121)help
Grandparent Node:
expand
Disproportionate short stature (HP:0003498)help
Parent Node:
expand
Disproportionate short-trunk short stature (HP:0003521)help
..Starting node
..expand
Childhood-onset short-trunk short stature (HP:0008922)help
Term ID: 8922
Name: Childhood-onset short-trunk short stature
Synonym: Childhood-onset short-trunk short stature; Disproportionate short-trunk short stature, identifiable in childhood; Short-trunk dwarfism identifiable during childhood
Definition: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
Comments:
Reference: HP:0008922
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandInfancy onset short-trunk short stature (HP:0011406) help
..expandLethal short-trunk short stature (HP:0011404) help
..expandNeonatal short-trunk short stature (HP:0008857) 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:0008922HP:0008922Childhood-onset short-trunk short stature0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214


Genes (1) :TRPV4

Diseases (1) :OMIM:113500
 

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