Human Phenotype Ontology 
Grandparent Node:
expandAbnormal scapula morphology (HP:0000782)help
Grandparent Node:
expandAbnormal shoulder morphology (HP:0003043)help
Parent Node:
expandAbnormality of the glenoid fossa (HP:0011912)help
..Starting node
..expandAbsent glenoid fossa (HP:0006591)help
Term ID: 6591
Name: Absent glenoid fossa
Synonym: Aplasia of the glenoid fossa
Definition: Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
Comments:
Reference: HP:0006591
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFlat glenoid fossa (HP:0000911) help
..expandGlenoid fossa hypoplasia (HP:0006633) 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:0006591HP:0006591Absent glenoid fossa0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006591HP:0006591Absent glenoid fossa0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006591HP:0006591Absent glenoid fossa0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0006591HP:0006591Absent glenoid fossa0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional


Genes (4) :DLK1 MEG3 ORC1 RTL1

Diseases (2) :ORPHA:96334 OMIM:224690
 

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