Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the clavicles (HP:0006710)help
Parent Node:
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Short clavicles (HP:0000894)help
..Starting node
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Midclavicular hypoplasia (HP:0006608)help
Term ID: 6608
Name: Midclavicular hypoplasia
Synonym: Underdeveloped middle portion of the collarbone
Definition: Underdevelopment of the middle portion of the clavicle.
Comments:
Reference: HP:0006608
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006608HP:0006608Midclavicular hypoplasia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0006608HP:0006608Midclavicular hypoplasia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0006608HP:0006608Midclavicular hypoplasia0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948


Genes (3) :BMPR1A PORCN PTEN

Diseases (2) :ORPHA:79076 OMIM:305600
 

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