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:
Cerebellar malformation (HP:0002438)

Parent Node:
Abnormal cerebellar vermis morphology (HP:0002334)

..Starting node
..Disorganization of the anterior cerebellar vermis (HP:0007065)

Term ID:

7065

Name:

Disorganization of the anterior cerebellar vermis

Synonym:

Disorganisation of the anterior cerebellar vermis

Definition:

Comments:

Reference:

HP:0007065

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Cerebellar vermis atrophy (HP:0006855)

Dysgenesis of the cerebellar vermis (HP:0002195)

Dysmorphic inferior cerebellar vermis (HP:0012460)

Loss of Purkinje cells in the cerebellar vermis (HP:0007001)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007065	HP:0007065	Disorganization of the anterior cerebellar vermis	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	55

Genes (1) :OPHN1

Diseases (1) :OMIM:300486

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