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 cerebral morphology (HP:0002060)

Grandparent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Grandparent Node:
Brain atrophy (HP:0012444)

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

..Starting node
..Cerebral cortical neurodegeneration (HP:0006964)

Term ID:

6964

Name:

Cerebral cortical neurodegeneration

Synonym:

Definition:

Comments:

Reference:

HP:0006964

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral atrophy (HP:0002059)

Cerebral degeneration (HP:0007313)

Corpus callosum atrophy (HP:0007371)

Subcortical cerebral atrophy (HP:0012157)

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:0006964	HP:0006964	Cerebral cortical neurodegeneration	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464

Genes (1) :POLG

Diseases (1) :OMIM:203700

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