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 degeneration (HP:0007313)

Term ID:

7313

Name:

Cerebral degeneration

Synonym:

Neuroaxonal degeneration in the brain

Definition:

Comments:

Reference:

HP:0007313

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral atrophy (HP:0002059)

Cerebral cortical neurodegeneration (HP:0006964)

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:0007313	HP:0007313	Cerebral degeneration	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0007313	HP:0007313	Cerebral degeneration	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55

Genes (2) :GLB1 PANK2

Diseases (2) :OMIM:230500 OMIM:234200

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