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
..Abnormality of stem of antihelix (HP:0011244)

Term ID:

11244

Name:

Abnormality of stem of antihelix

Synonym:

Definition:

An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.

Comments:

Reference:

HP:0011244

Genes and Diseases:

Child Nodes:

........

Prominent stem of antihelix (HP:0011240)

........

Serpiginous stem of antihelix (HP:0011241)

........

Underdeveloped stem of antihelix (HP:0011242)

Sister Nodes:

Abnormality of inferior crus of antihelix (HP:0011243)

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)

Hypoplasia of the antihelix (HP:0009739)

Prominent antihelix (HP:0000395)

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:0011244	HP:0011244	Abnormality of stem of antihelix	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B	2
HP:0011244	HP:0011242	Underdeveloped stem of antihelix	1	CL E G H
HP:0011244	HP:0011241	Serpiginous stem of antihelix	1	CL E G H
HP:0011244	HP:0011240	Prominent stem of antihelix	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B	2

Genes (1) :TCF3

Diseases (1) :OMIM:619824

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