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 cerebellar vermis morphology (HP:0002334)

Parent Node:
Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)

..Starting node
..Aplasia of the inferior half of the cerebellar vermis (HP:0007063)

Term ID:

7063

Name:

Aplasia of the inferior half of the cerebellar vermis

Synonym:

Absent inferior half of the cerebellar vermis

Definition:

Comments:

Reference:

HP:0007063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of cerebellar vermis (HP:0002335)

Cerebellar vermis hypoplasia (HP:0001320)

Partial absence of cerebellar vermis (HP:0002951)

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:0007063	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27

Genes (1) :WDR81

Diseases (1) :OMIM:610185

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