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 brainstem morphology (HP:0002363)

Grandparent Node:
Abnormal metencephalon morphology (HP:0011283)

Parent Node:
Abnormal pons morphology (HP:0007361)

..Starting node
..Pontine tegmental cap (HP:0030975)

Term ID:

30975

Name:

Pontine tegmental cap

Synonym:

Vaulted pontine tegmentum

Definition:

An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.

Comments:

Reference:

HP:0030975

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal superior cerebellar peduncle morphology (HP:0011932)

Hypoplasia of the pons (HP:0012110)

Hypoplasia of the ventral pons (HP:0006850)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030975	HP:0030975	Pontine tegmental cap	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.