Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Brain stem compression (HP:0002512)

Term ID:

2512

Name:

Brain stem compression

Synonym:

Definition:

Comments:

Reference:

HP:0002512

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)

Brainstem dysplasia (HP:0002508)

Enlarged brainstem (HP:0012755)

Kinked brainstem (HP:0012793)

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:0002512	HP:0002512	Brain stem compression	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0002512	HP:0002512	Brain stem compression	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0002512	HP:0002512	Brain stem compression	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0002512	HP:0002512	Brain stem compression	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002512	HP:0002512	Brain stem compression	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002512	HP:0002512	Brain stem compression	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0002512	HP:0002512	Brain stem compression	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0002512	HP:0002512	Brain stem compression	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0002512	HP:0002512	Brain stem compression	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0002512	HP:0002512	Brain stem compression	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0002512	HP:0002512	Brain stem compression	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0002512	HP:0002512	Brain stem compression	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0002512	HP:0002512	Brain stem compression	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0002512	HP:0002512	Brain stem compression	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0002512	HP:0002512	Brain stem compression	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0002512	HP:0002512	Brain stem compression	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare

Genes (15) :AKT1 BAP1 DKK1 FGFR3 FUZ NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TNFRSF11A TRAF7

Diseases (6) :ORPHA:2495 ORPHA:268882 OMIM:100800 ORPHA:1136 ORPHA:637 OMIM:602080

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

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