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:
Abnormality of brain morphology (HP:0012443)

Parent Node:
Abnormal brainstem morphology (HP:0002363)

..Starting node
..Kinked brainstem (HP:0012793)

Term ID:

12793

Name:

Kinked brainstem

Synonym:

Kinked brain stem

Definition:

A kinked appearance of the brainstem, i.e., an exaggerated flexure.

Comments:

Reference:

HP:0012793

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal brainstem MRI signal intensity (HP:0012747)

Abnormal brainstem white matter morphology (HP:0012501)

Abnormal medulla oblongata morphology (HP:0011441)

Abnormal pons morphology (HP:0007361)

Aplasia/Hypoplasia of the brainstem (HP:0007362)

Atrophy/Degeneration affecting the brainstem (HP:0007366)

Brain stem compression (HP:0002512)

Brainstem dysplasia (HP:0002508)

Enlarged brainstem (HP:0012755)

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:0012793	HP:0012793	Kinked brainstem	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0012793	HP:0012793	Kinked brainstem	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0012793	HP:0012793	Kinked brainstem	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0012793	HP:0012793	Kinked brainstem	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0012793	HP:0012793	Kinked brainstem	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0012793	HP:0012793	Kinked brainstem	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221

Genes (6) :BLTP1 FKRP FKTN LARGE1 POMT1 POMT2

Diseases (2) :OMIM:617822 OMIM:236670

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