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

..Starting node
..Aplasia/Hypoplasia of the midbrain (HP:0034258)

Term ID:

34258

Name:

Aplasia/Hypoplasia of the midbrain

Synonym:

Aplasia/Hypoplasia of the mesencephalon

Definition:

Absence or underdevelopment of the midbrain (mesencephalon).

Comments:

Reference:

HP:0034258

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034258	HP:0034258	Aplasia/Hypoplasia of the midbrain	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	7
HP:0034258	HP:0007265	Absent mesencephalon	1	CL E G H
HP:0034258	HP:0034259	Hypoplasia of the midbrain	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	7

Genes (1) :BRF1

Diseases (1) :OMIM:616202

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