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 cranial nerve morphology (HP:0001291)

Grandparent Node:
Abnormality of peripheral nerves (HP:0045010)

Grandparent Node:
Abnormality of the head (HP:0000234)

Parent Node:
Abnormal lingual nerve morphology (HP:3000075)

..Starting node
..Abnormality of the twelfth cranial nerve (HP:0010826)

Term ID:

10826

Name:

Abnormality of the twelfth cranial nerve

Synonym:

Abnormality of cranial nerve 12; Abnormality of cranial nerve xii; Abnormality of the hypoglossal nerve

Definition:

Abnormality of the twelfth cranial nerve.

Comments:

Reference:

HP:0010826

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010826	HP:0010826	Abnormality of the twelfth cranial nerve	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent

Genes (1) :DKK1

Diseases (1) :ORPHA:268882

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