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 helix morphology (HP:0011039)

..Starting node
..Posterior helix pit (HP:0008523)

Term ID:

8523

Name:

Posterior helix pit

Synonym:

Ear, posterior helical groove; Ear, posterior helical notch; Helix, posterior pit; Indentation in back of outer ear; Pits in posterior aspect of ear helices

Definition:

Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.

Comments:

Reference:

HP:0008523

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)

Prominent ear helix (HP:0009904)

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:0008523	HP:0008523	Posterior helix pit	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0008523	HP:0008523	Posterior helix pit	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0008523	HP:0008523	Posterior helix pit	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0008523	HP:0008523	Posterior helix pit	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0008523	HP:0008523	Posterior helix pit	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0008523	HP:0008523	Posterior helix pit	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0008523	HP:0008523	Posterior helix pit	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0008523	HP:0008523	Posterior helix pit	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1

Genes (8) :CDKN1C EP300 GPC3 GPC4 H19-ICR IGF2 KCNQ1 KCNQ1OT1

Diseases (3) :OMIM:130650 OMIM:613684 OMIM:312870

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

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