Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal scapula morphology (HP:0000782)

Grandparent Node:
Abnormal shoulder morphology (HP:0003043)

Parent Node:
Abnormality of the glenoid fossa (HP:0011912)

..Starting node
..Glenoid fossa hypoplasia (HP:0006633)

Term ID:

6633

Name:

Glenoid fossa hypoplasia

Synonym:

Glenoid hypoplasia; Hypoplastic glenoid fossa

Definition:

Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.

Comments:

Reference:

HP:0006633

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent glenoid fossa (HP:0006591)

Flat glenoid fossa (HP:0000911)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006633	HP:0006633	Glenoid fossa hypoplasia	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0006633	HP:0006633	Glenoid fossa hypoplasia	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0006633	HP:0006633	Glenoid fossa hypoplasia	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0006633	HP:0006633	Glenoid fossa hypoplasia	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11

Genes (4) :DYM LMX1B LYSET SCARF2

Diseases (4) :ORPHA:239 OMIM:161200 OMIM:619345 OMIM:600920

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