Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the scapulae (HP:0006713)help
Parent Node:
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Hypoplastic scapulae (HP:0000882)help
..Starting node
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Small abnormally formed scapulae (HP:0006584)help
Term ID: 6584
Name: Small abnormally formed scapulae
Synonym: Small abnormally formed scapula; Small abnormally formed shoulder blade
Definition:
Comments:
Reference: HP:0006584
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplastic distal segments of scapulae (HP:0006631) 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:0006584HP:0006584Small abnormally formed scapulae0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0006584HP:0006584Small abnormally formed scapulae0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0006584HP:0006584Small abnormally formed scapulae0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109


Genes (2) :FGFR3 SOX9

Diseases (3) :OMIM:187600 OMIM:187601 ORPHA:140
 

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