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

..Starting node
..Hemidystonia (HP:0032005)

Term ID:

32005

Name:

Hemidystonia

Synonym:

Definition:

Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.

Comments:

Reference:

HP:0032005

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032005	HP:0032005	Hemidystonia	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome	6
HP:0032005	HP:0032005	Hemidystonia	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS	2
HP:0032005	HP:0032005	Hemidystonia	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8	23
HP:0032005	HP:0032005	Hemidystonia	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	66

Genes (4) :MECR PRKAR1B TACO1 TUBB4A

Diseases (4) :ORPHA:508093 OMIM:619680 OMIM:619052 OMIM:128101

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