Human Phenotype Ontology

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)

Parent Node:
Abnormal hindbrain morphology (HP:0011282)

..Starting node
..Abnormal medulla oblongata morphology (HP:0011441)

Term ID:

11441

Name:

Abnormal medulla oblongata morphology

Synonym:

Abnormality of the medulla oblongata; Abnormality of the myencephalon

Definition:

An abnormality of the medulla oblongata, the lower half of the brainstem.

Comments:

Reference:

HP:0011441

Genes and Diseases:

Child Nodes:

........

Olivary degeneration (HP:0008303)

Sister Nodes:

Abnormal metencephalon morphology (HP:0011283)

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:0011441	HP:0011441	Abnormal medulla oblongata morphology	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0011441	HP:0011441	Abnormal medulla oblongata morphology	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0011441	HP:0011441	Abnormal medulla oblongata morphology	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0011441	HP:0008303	Olivary degeneration	1	CL E G H

Genes (3) :FUZ GALC GFAP

Diseases (3) :ORPHA:1136 ORPHA:206448 ORPHA:363722

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