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)

Parent Node:
Abnormal cerebral cortex morphology (HP:0002538)

..Starting node
..Cerebral cortex with spongiform changes (HP:0006790)

Term ID:

6790

Name:

Cerebral cortex with spongiform changes

Synonym:

Definition:

Comments:

Reference:

HP:0006790

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cortical gyration (HP:0002536)

Cortical dysplasia (HP:0002539)

Cortical tubers (HP:0009717)

Hypoplasia of the frontal lobes (HP:0007333)

Neuronal loss in the cerebral cortex (HP:0007190)

Open operculum (HP:0100954)

Small cerebral cortex (HP:0002472)

Thick cerebral cortex (HP:0006891)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006790	HP:0006790	Cerebral cortex with spongiform changes	0	CL E G H

Genes (0) :

Diseases (0) :

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