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
..Underdeveloped superior crus of antihelix (HP:0011246)

Term ID:

11246

Name:

Underdeveloped superior crus of antihelix

Synonym:

Hypoplastic superior crus of antihelix; Hypotrophic superior crus of antihelix

Definition:

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

Comments:

Reference:

HP:0011246

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prominent superior crus of antihelix (HP:0011247)

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:0011246	HP:0011246	Underdeveloped superior crus of antihelix	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	493

Genes (1) :FLNA

Diseases (1) :OMIM:300321

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