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
..Hypoplasia of the ventral pons (HP:0006850)

Term ID:

6850

Name:

Hypoplasia of the ventral pons

Synonym:

Underdeveloped ventral pons

Definition:

Underdevelopment of the ventral portion of the pons.

Comments:

Reference:

HP:0006850

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal superior cerebellar peduncle morphology (HP:0011932)

Hypoplasia of the pons (HP:0012110)

Pontine tegmental cap (HP:0030975)

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:0006850	HP:0006850	Hypoplasia of the ventral pons	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0006850	HP:0006850	Hypoplasia of the ventral pons	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0006850	HP:0006850	Hypoplasia of the ventral pons	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0006850	HP:0006850	Hypoplasia of the ventral pons	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0006850	HP:0006850	Hypoplasia of the ventral pons	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102
HP:0006850	HP:0006850	Hypoplasia of the ventral pons	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32

Genes (6) :SEPSECS TSEN15 TSEN2 TSEN34 TSEN54 VRK1

Diseases (2) :ORPHA:2524 OMIM:607596

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