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:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the scapulae (HP:0006713)

..Starting node
..Scapular aplasia (HP:0010317)

Term ID:

10317

Name:

Scapular aplasia

Synonym:

Absent scapula; Absent shoulder blade

Definition:

Absence of the scapulae.

Comments:

Reference:

HP:0010317

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic scapulae (HP:0000882)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010317	HP:0010317	Scapular aplasia	0	CL E G H

Genes (0) :

Diseases (0) :

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