Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 helix morphology (HP:0011039)

..Starting node
..Prominent ear helix (HP:0009904)

Term ID:

9904

Name:

Prominent ear helix

Synonym:

Large helix

Definition:

Abnormally prominent ear helix.

Comments:

Reference:

HP:0009904

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal incisura morphology (HP:0031228)

Abnormality of the crus of the helix (HP:0009895)

Abnormally folded helix (HP:0008544)

Cleft helix (HP:0009902)

Crimped helix (HP:0011262)

Darwin tubercle of helix (HP:0011261)

Discontinuous ascending root of helix (HP:0011264)

Hypoplastic helices (HP:0008589)

Long hairs growing from helix of pinna (HP:0008528)

Pointed helix (HP:0100810)

Posterior helix pit (HP:0008523)

Squared superior portion of helix (HP:0030026)

Thickened helices (HP:0000391)

Thin ear helix (HP:0009905)

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:0009904	HP:0009904	Prominent ear helix	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0009904	HP:0009904	Prominent ear helix	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0009904	HP:0009904	Prominent ear helix	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0009904	HP:0009904	Prominent ear helix	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0009904	HP:0009904	Prominent ear helix	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0009904	HP:0009904	Prominent ear helix	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009904	HP:0009904	Prominent ear helix	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (7) :ACBD5 AFF2 DOCK7 LMNA PYCR1 ZMIZ1 ZMPSTE24

Diseases (6) :OMIM:618863 ORPHA:100973 ORPHA:411986 ORPHA:740 OMIM:614438 OMIM:618659

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