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 basal ganglia morphology (HP:0002134)

Parent Node:
Abnormal corpus striatum morphology (HP:0010994)

..Starting node
..Striatal T2 hyperintensity (HP:0031206)

Term ID:

31206

Name:

Striatal T2 hyperintensity

Synonym:

Definition:

Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.

Comments:

Reference:

HP:0031206

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal caudate nucleus morphology (HP:0002339)

Degeneration of the striatum (HP:0040140)

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:0031206	HP:0031206	Striatal T2 hyperintensity	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0031206	HP:0031206	Striatal T2 hyperintensity	0	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040282 - Frequent	5

Genes (2) :MECR PDE10A

Diseases (2) :ORPHA:508093 ORPHA:494541

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