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 appendicular skeleton morphology (HP:0011844)

Grandparent Node:
Abnormal thorax morphology (HP:0000765)

Parent Node:
Abnormal shoulder morphology (HP:0003043)

..Starting node
..Stippled calcification of the shoulder (HP:0003836)

Term ID:

3836

Name:

Stippled calcification of the shoulder

Synonym:

Definition:

Comments:

Reference:

HP:0003836

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the glenoid fossa (HP:0011912)

Down-sloping shoulders (HP:0200021)

Internally rotated shoulders (HP:0006659)

Limited shoulder movement (HP:0006467)

Scapulohumeral synostosis (HP:0006595)

Shoulder dislocation (HP:0003834)

Shoulder flexion contracture (HP:0003044)

Shoulder impingement (HP:0030881)

Stiff shoulders (HP:0009742)

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:0003836	HP:0003836	Stippled calcification of the shoulder	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0003836	HP:0003836	Stippled calcification of the shoulder	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151

Genes (2) :ABCC6 ENPP1

Diseases (1) :ORPHA:51608

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