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 helix morphology (HP:0011039)

Parent Node:
Hypoplastic helices (HP:0008589)

..Starting node
..Hypoplastic superior helix (HP:0008559)

Term ID:

8559

Name:

Hypoplastic superior helix

Synonym:

Underdeveloped superior helices

Definition:

Comments:

Reference:

HP:0008559

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008559	HP:0008559	Hypoplastic superior helix	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0008559	HP:0008559	Hypoplastic superior helix	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0008559	HP:0008559	Hypoplastic superior helix	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0008559	HP:0008559	Hypoplastic superior helix	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (4) :FRAS1 GNAI3 PLCB4 TFAP2A

Diseases (4) :OMIM:219000 OMIM:602483 OMIM:614669 OMIM:113620

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