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:
Cerebral atrophy (HP:0002059)

Parent Node:
Cerebral cortical atrophy (HP:0002120)

..Starting node
..Cerebral cortical hemiatrophy (HP:0100308)

Term ID:

100308

Name:

Cerebral cortical hemiatrophy

Synonym:

Definition:

Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.

Comments:

Reference:

HP:0100308

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frontal cortical atrophy (HP:0006913)

Occipital cortical atrophy (HP:0012105)

Parietal cortical atrophy (HP:0012104)

Temporal cortical atrophy (HP:0007112)

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:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0100308	HP:0100308	Cerebral cortical hemiatrophy	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31

Genes (6) :ACTB ACTG1 EHMT1 MBTPS2 MYO5A TCTN3

Diseases (5) :ORPHA:2995 ORPHA:96147 ORPHA:2273 ORPHA:33445 ORPHA:2753

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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