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)

Parent Node:
Limited elbow flexion (HP:0006376)

..Starting node
..Limited elbow flexion/extension (HP:0005060)

Term ID:

5060

Name:

Limited elbow flexion/extension

Synonym:

Definition:

Comments:

Reference:

HP:0005060

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fixed elbow flexion (HP:0006471)

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:0005060	HP:0005060	Limited elbow flexion/extension	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0005060	HP:0005060	Limited elbow flexion/extension	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0005060	HP:0005060	Limited elbow flexion/extension	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4

Genes (3) :FZD2 GPC6 KCNK9

Diseases (3) :OMIM:164745 OMIM:258315 ORPHA:166108

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