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:
Abnormality of the elbow (HP:0009811)

Grandparent Node:
Limitation of joint mobility (HP:0001376)

Parent Node:
Limited elbow movement (HP:0002996)

..Starting node
..Limited pronation/supination of forearm (HP:0006394)

Term ID:

6394

Name:

Limited pronation/supination of forearm

Synonym:

Limited pronation/supination of forearm

Definition:

A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).

Comments:

Reference:

HP:0006394

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elbow flexion contracture (HP:0002987)

Limited elbow extension (HP:0001377)

Limited elbow flexion (HP:0006376)

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:0006394	HP:0006394	Limited pronation/supination of forearm	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	3
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	9
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.	8
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	21
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0006394	HP:0006394	Limited pronation/supination of forearm	0	MET CL E G H	4233	7029	OMIM:620019			375

Genes (8) :COLEC10 COLEC11 HOXA11 IFITM5 LMX1B MASP1 MECOM MET

Diseases (6) :ORPHA:293843 OMIM:605432 OMIM:610967 ORPHA:2614 OMIM:616738 OMIM:620019

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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