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 cerebellum morphology (HP:0001317)

Parent Node:
Abnormal cerebellar cortex morphology (HP:0031422)

..Starting node
..Small cerebellar cortex (HP:0031423)

Term ID:

31423

Name:

Small cerebellar cortex

Synonym:

Definition:

Reduced size of the cerebellar cortex.

Comments:

Reference:

HP:0031423

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031423	HP:0031423	Small cerebellar cortex	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0031423	HP:0031423	Small cerebellar cortex	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271

Genes (2) :ATP6V1B2 TBC1D24

Diseases (1) :ORPHA:79500

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