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:
Limited elbow movement (HP:0002996)

Parent Node:
Limited elbow extension (HP:0001377)

..Starting node
..Limited elbow extension and supination (HP:0005852)

Term ID:

5852

Name:

Limited elbow extension and supination

Synonym:

Definition:

Comments:

Reference:

HP:0005852

Genes and Diseases:

Child Nodes:

Sister Nodes:

Limited elbow flexion/extension (HP:0005060)

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:0005852	HP:0005852	Limited elbow extension and supination	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0005852	HP:0005852	Limited elbow extension and supination	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0005852	HP:0005852	Limited elbow extension and supination	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98

Genes (3) :DVL1 MED12 WNT5A

Diseases (2) :OMIM:180700 ORPHA:93932

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