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:
Abnormality of the cerebral subcortex (HP:0010993)

Parent Node:
Abnormality of the basal ganglia (HP:0002134)

..Starting node
..Abnormal corpus striatum morphology (HP:0010994)

Term ID:

10994

Name:

Abnormal corpus striatum morphology

Synonym:

Abnormality of the neostriatum; Abnormality of the striate nucleus; Abnormality of the striatum

Definition:

Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.

Comments:

Reference:

HP:0010994

Genes and Diseases:

Child Nodes:

........

Abnormality of the caudate nucleus (HP:0002339)

................... HP:0007374 Atrophy/Degeneration involving the caudate nucleus
................... HP:0012644 Increased caudate lactate level

........

Striatal T2 hyperintensity (HP:0031206)

........

Degeneration of the striatum (HP:0040140)

Sister Nodes:

Abnormal basal ganglia MRI signal intensity (HP:0012751)

Abnormal globus pallidus morphology (HP:0002453)

Abnormal substantia nigra morphology (HP:0045007)

Basal ganglia calcification (HP:0002135)

Basal ganglia cysts (HP:0006799)

Basal ganglia edema (HP:0025039)

Basal ganglia gliosis (HP:0006999)

Basal ganglia necrosis (HP:0012128)

Bilateral basal ganglia lesions (HP:0007146)

Cavitation of the basal ganglia (HP:0007007)

Dysgenesis of the basal ganglia (HP:0025102)

Hemiballismus (HP:0100248)

Large basal ganglia (HP:0007048)

Neuronal loss in basal ganglia (HP:0200147)

Small basal ganglia (HP:0012697)

Status cribrosum (HP:0025012)

Symmetric lesions of the basal ganglia (HP:0007039)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0010994	Abnormal corpus striatum morphology	0	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0031982	Abnormal putamen morphology	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0031206	Striatal T2 hyperintensity	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0040140	Degeneration of the striatum	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0040140	Degeneration of the striatum	1	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0002339	Abnormal caudate nucleus morphology	1	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0031982	Abnormal putamen morphology	1	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0031206	Striatal T2 hyperintensity	1	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0041052	Agenesis of putamen	2	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0012644	Increased caudate lactate level	2	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0041052	Agenesis of putamen	2	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0012644	Increased caudate lactate level	2	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0010994	HP:0002340	Caudate atrophy	3	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0010994	HP:0002340	Caudate atrophy	3	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (21) :ADAR AIFM1 ATP13A2 ATP6 ATXN3 BSCL2 COASY HTT IFIH1 JPH3 NUP62 PDE10A PDE8B RANBP2 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 TYROBP VPS13A

Diseases (17) :238329 616922 51 314632 276244 276238 276241 397725 494541 609161 88619 225154 363400 617435 98934 221770 200150

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

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