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 central motor function (HP:0011442)

Grandparent Node:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormality of extrapyramidal motor function (HP:0002071)

Parent Node:
Cerebral palsy (HP:0100021)

..Starting node
..Athetoid cerebral palsy (HP:0011445)

Term ID:

11445

Name:

Athetoid cerebral palsy

Synonym:

Dyskinetic cerebral palsy

Definition:

A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.

Comments:

Reference:

HP:0011445

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011445	HP:0011445	Athetoid cerebral palsy	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.