Human Phenotype Ontology 
Grandparent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Parent Node:
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Abnormal scapula morphology (HP:0000782)help
Parent Node:
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Abnormal shoulder morphology (HP:0003043)help
..Starting node
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Abnormality of the glenoid fossa (HP:0011912)help
Term ID: 11912
Name: Abnormality of the glenoid fossa
Synonym:
Definition: An anomaly 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:0011912
Genes and Diseases:
 
       Child Nodes:
........expandFlat glenoid fossa (HP:0000911) help
........expandAbsent glenoid fossa (HP:0006591) help
........expandGlenoid fossa hypoplasia (HP:0006633) help

 Sister Nodes: 
..expandDown-sloping shoulders (HP:0200021) help
..expandInternally rotated shoulders (HP:0006659) help
..expandLimited shoulder movement (HP:0006467) help
..expandScapulohumeral synostosis (HP:0006595) help
..expandShoulder dislocation (HP:0003834) help
..expandShoulder flexion contracture (HP:0003044) help
..expandShoulder impingement (HP:0030881) help
..expandStiff shoulders (HP:0009742) help
..expandStippled calcification of the shoulder (HP:0003836) 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:0011912HP:0011912Abnormality of the glenoid fossa0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0011912HP:0011912Abnormality of the glenoid fossa0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0011912HP:0011912Abnormality of the glenoid fossa0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0011912HP:0011912Abnormality of the glenoid fossa0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0011912HP:0011912Abnormality of the glenoid fossa0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0011912HP:0011912Abnormality of the glenoid fossa0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0011912HP:0011912Abnormality of the glenoid fossa0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0011912HP:0011912Abnormality of the glenoid fossa0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011912HP:0011912Abnormality of the glenoid fossa0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0011912HP:0006591Absent glenoid fossa1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011912HP:0000911Flat glenoid fossa1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0011912HP:0006633Glenoid fossa hypoplasia1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0011912HP:0006633Glenoid fossa hypoplasia1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0011912HP:0006633Glenoid fossa hypoplasia1LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0011912HP:0006591Absent glenoid fossa1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011912HP:0006591Absent glenoid fossa1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0011912HP:0000911Flat glenoid fossa1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0011912HP:0006591Absent glenoid fossa1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0011912HP:0006633Glenoid fossa hypoplasia1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11


Genes (8) :DLK1 DYM LMX1B LYSET MEG3 ORC1 RTL1 SCARF2

Diseases (7) :ORPHA:96334 OMIM:223800 ORPHA:239 OMIM:161200 OMIM:619345 OMIM:224690 OMIM:600920
 

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