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 pinna morphology (HP:0000377)

Parent Node:
Abnormal helix morphology (HP:0011039)

..Starting node
..Darwin tubercle of helix (HP:0011261)

Term ID:

11261

Name:

Darwin tubercle of helix

Synonym:

Helix, Darwin tubercle

Definition:

Small expansion of the helical fold at the junction of the superior and descending portions of the helix.

Comments:

Reference:

HP:0011261

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal incisura morphology (HP:0031228)

Abnormality of the crus of the helix (HP:0009895)

Abnormally folded helix (HP:0008544)

Cleft helix (HP:0009902)

Crimped helix (HP:0011262)

Discontinuous ascending root of helix (HP:0011264)

Hypoplastic helices (HP:0008589)

Long hairs growing from helix of pinna (HP:0008528)

Pointed helix (HP:0100810)

Posterior helix pit (HP:0008523)

Prominent ear helix (HP:0009904)

Squared superior portion of helix (HP:0030026)

Thickened helices (HP:0000391)

Thin ear helix (HP:0009905)

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:0011261	HP:0011261	Darwin tubercle of helix	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0011261	HP:0011261	Darwin tubercle of helix	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	37
HP:0011261	HP:0011261	Darwin tubercle of helix	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	44

Genes (3) :GDF11 NR2F1 SLC25A12

Diseases (3) :OMIM:619122 OMIM:615722 OMIM:612949

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