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 antihelix morphology (HP:0009738)

Parent Node:
Abnormality of superior crus of antihelix (HP:0011245)

..Starting node
..Prominent superior crus of antihelix (HP:0011247)

Term ID:

11247

Name:

Prominent superior crus of antihelix

Synonym:

Hyperplastic superior crus of antihelix; Hypertrophic superior crus of antihelix

Definition:

Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.

Comments:

Reference:

HP:0011247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Underdeveloped superior crus of antihelix (HP:0011246)

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:0011247	HP:0011247	Prominent superior crus of antihelix	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37

Genes (1) :PIGN

Diseases (1) :ORPHA:280633

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