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 head or neck (HP:0000152)

Parent Node:
Abnormal cranial nerve morphology (HP:0001291)

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

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

..Starting node
..Abnormal great auricular nerve morphology (HP:3000048)

Term ID:

3000048

Name:

Abnormal great auricular nerve morphology

Synonym:

Definition:

Any structural anomaly of a great auricular nerve.

Comments:

Reference:

HP:3000048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal glossopharyngeal nerve morphology (HP:3000047)

Abnormal head blood vessel morphology (HP:3000036)

Abnormal lingual nerve morphology (HP:3000075)

Abnormal scalp morphology (HP:0001965)

Abnormal skull morphology (HP:0000929)

Abnormality of inferior alveolar nerve (HP:3000055)

Abnormality of infra-orbital nerve (HP:3000061)

Abnormality of occipitofrontalis muscle (HP:0040172)

Abnormality of the face (HP:0000271)

Abnormality of the pharynx (HP:0000600)

Fixed head retroflexion (HP:0031178)

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:3000048	HP:3000048	Abnormal great auricular nerve morphology	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	493
HP:3000048	HP:0034347	Greater auricular nerve thickening	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	493

Genes (1) :SH3TC2

Diseases (1) :OMIM:601596

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