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
..Additional crus of antihelix (HP:0011235)

Term ID:

11235

Name:

Additional crus of antihelix

Synonym:

Definition:

Supernumerary ridge or crus of the ear arising from the antihelix.

Comments:

Reference:

HP:0011235

Genes and Diseases:

Child Nodes:

........

Stahl ear (HP:0100015)

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)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011235	HP:0011235	Additional crus of antihelix	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0011235	HP:0011235	Additional crus of antihelix	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0011235	HP:0011235	Additional crus of antihelix	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0011235	HP:0100015	Stahl ear	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0011235	HP:0100015	Stahl ear	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57

Genes (3) :SALL1 SCNM1 SLC16A2

Diseases (3) :OMIM:107480 OMIM:620107 OMIM:300523

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