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:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Parent Node:
Cerebral atrophy (HP:0002059)

..Starting node
..Generalized cerebral atrophy/hypoplasia (HP:0007058)

Term ID:

7058

Name:

Generalized cerebral atrophy/hypoplasia

Synonym:

Generalised cerebral atrophy/hypoplasia; Generalised cerebral degeneration/underdevelopment; Generalized cerebral degeneration/underdevelopment

Definition:

Generalized atrophy or hypoplasia of the cerebrum.

Comments:

Reference:

HP:0007058

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral cortical atrophy (HP:0002120)

Diffuse cerebral atrophy (HP:0002506)

Frontotemporal cerebral atrophy (HP:0006892)

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:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	530
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	10
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	139
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	54
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	1053
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	126
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	427
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	318
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	9
HP:0007058	HP:0007058	Generalized cerebral atrophy/hypoplasia	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7

Genes (12) :ADGRV1 CLN3 GABRD GABRG2 HCN1 PLA2G6 SCN1A SCN1B SCN2A SCN9A STX1B TBP

Diseases (4) :ORPHA:36387 ORPHA:228346 ORPHA:199351 ORPHA:98759

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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