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 peduncle morphology (HP:0011931)

Grandparent Node:
Abnormal pons morphology (HP:0007361)

Parent Node:
Abnormal superior cerebellar peduncle morphology (HP:0011932)

..Starting node
..Splayed superior cerebellar peduncle (HP:0030285)

Term ID:

30285

Name:

Splayed superior cerebellar peduncle

Synonym:

Definition:

Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.

Comments:

Reference:

HP:0030285

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophic superior cerebellar peduncle (HP:0030286)

Elongated superior cerebellar peduncle (HP:0011933)

Thickened superior cerebellar peduncle (HP:0002404)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030285	HP:0030285	Splayed superior cerebellar peduncle	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.