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

Human Phenotype Ontology

Grandparent Node:
Abnormal cerebral subcortex morphology (HP:0010993)

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Parent Node:
Abnormal cerebral white matter morphology (HP:0002500)

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..Starting node
..Abnormality of the internal capsule (HP:0012502)

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Term ID:

12502

Name:

Abnormality of the internal capsule

Synonym:

Definition:

An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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Abnormal corpus callosum morphology (HP:0001273)

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Abnormal periventricular white matter morphology (HP:0002518)

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Abnormality of the anterior commissure (HP:0030301)

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Abnormality of the bed nucleus of stria terminalis (HP:0030798)

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Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)

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Cerebral white matter atrophy (HP:0012762)

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Diffuse swelling of cerebral white matter (HP:0007341)

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Diffuse white matter abnormalities (HP:0007204)

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Focal white matter lesions (HP:0007042)

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Hyperintensity of cerebral white matter on MRI (HP:0030890)

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Hypointensity of cerebral white matter on MRI (HP:0007103)

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Multifocal cerebral white matter abnormalities (HP:0007052)

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Subcortical white matter calcifications (HP:0007346)

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White mater abnormalities in the posterior periventricular region (HP:0006812)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012502	HP:0012502	Abnormality of the internal capsule	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs				14
HP:0012502	HP:0012502	Abnormality of the internal capsule	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation				106
HP:0012502	HP:0012502	Abnormality of the internal capsule	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria				106
HP:0012502	HP:0012502	Abnormality of the internal capsule	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria				39
HP:0012502	HP:0012502	Abnormality of the internal capsule	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria				64
HP:0012502	HP:0034051	Hypoplastic anterior limbs of the internal capsule	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs				14
HP:0012502	HP:0034051	Hypoplastic anterior limbs of the internal capsule	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation				106

Genes (4) :MICU1 TUBA1A TUBB2B TUBB3

Diseases (3) :OMIM:615673 ORPHA:171680 ORPHA:467166

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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