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 antihelix morphology (HP:0009738)

..Starting node
..Hypoplasia of the antihelix (HP:0009739)

Term ID:

9739

Name:

Hypoplasia of the antihelix

Synonym:

Hypoplastic antihelix

Definition:

Developmental hypoplasia of the antihelix.

Comments:

Reference:

HP:0009739

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of inferior crus of antihelix (HP:0011243)

Abnormality of stem of antihelix (HP:0011244)

Abnormality of superior crus of antihelix (HP:0011245)

Absent antihelix (HP:0011234)

Additional crus of antihelix (HP:0011235)

Angulated antihelix (HP:0011236)

Antihelical shelf (HP:0011233)

Prominent antihelix (HP:0000395)

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:0009739	HP:0009739	Hypoplasia of the antihelix	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15

Genes (1) :AASS

Diseases (1) :ORPHA:2203

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