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
..Dysmorphic inferior cerebellar vermis (HP:0012460)

Term ID:

12460

Name:

Dysmorphic inferior cerebellar vermis

Synonym:

Definition:

A structural anomaly of the inferior portion of the vermis of cerebellum.

Comments:

Reference:

HP:0012460

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Cerebellar vermis atrophy (HP:0006855)

Disorganization of the anterior cerebellar vermis (HP:0007065)

Dysgenesis of the cerebellar vermis (HP:0002195)

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

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012460	HP:0012460	Dysmorphic inferior cerebellar vermis	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.