Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 thorax morphology (HP:0000765)

Parent Node:
Abnormal scapula morphology (HP:0000782)

..Starting node
..Horizontal inferior border of scapula (HP:0031233)

Term ID:

31233

Name:

Horizontal inferior border of scapula

Synonym:

Squaring of the inferior scapulae; Squaring of the scapula

Definition:

A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).

Comments:

Reference:

HP:0031233

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the glenoid fossa (HP:0011912)

Aplasia/Hypoplasia of the scapulae (HP:0006713)

Scapular exostoses (HP:0000918)

Scapular winging (HP:0003691)

Scapulohumeral synostosis (HP:0006595)

Sclerotic scapulae (HP:0001474)

Sprengel anomaly (HP:0000912)

Thickening of the lateral border of the scapula (HP:0006650)

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:0031233	HP:0031233	Horizontal inferior border of scapula	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0031233	HP:0031233	Horizontal inferior border of scapula	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0031233	HP:0031233	Horizontal inferior border of scapula	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3

Genes (3) :ADA DYM GPX4

Diseases (3) :OMIM:102700 ORPHA:239 OMIM:250220

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

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