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
..Prominent antihelix (HP:0000395)

Term ID:

395

Name:

Prominent antihelix

Synonym:

Definition:

The presence of an abnormally prominent antihelix.

Comments:

Reference:

HP:0000395

Genes and Diseases:

Child Nodes:

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)

Additional crus of antihelix (HP:0011235)

Angulated antihelix (HP:0011236)

Antihelical shelf (HP:0011233)

Hypoplasia of the antihelix (HP:0009739)

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:0000395	HP:0000395	Prominent antihelix	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000395	HP:0000395	Prominent antihelix	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000395	HP:0000395	Prominent antihelix	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0000395	HP:0000395	Prominent antihelix	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0000395	HP:0000395	Prominent antihelix	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000395	HP:0000395	Prominent antihelix	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0000395	HP:0000395	Prominent antihelix	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000395	HP:0000395	Prominent antihelix	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000395	HP:0000395	Prominent antihelix	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000395	HP:0000395	Prominent antihelix	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000395	HP:0000395	Prominent antihelix	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000395	HP:0000395	Prominent antihelix	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000395	HP:0000395	Prominent antihelix	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000395	HP:0000395	Prominent antihelix	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0000395	HP:0000395	Prominent antihelix	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000395	HP:0000395	Prominent antihelix	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20

Genes (15) :AP4E1 BICRA EVC EVC2 FIG4 GLI2 KAT6A MGAT2 NR2F1 PGAP1 RBM10 RECQL4 SLC16A2 TOR1A WAC

Diseases (15) :OMIM:613744 OMIM:619325 OMIM:193530 OMIM:216340 OMIM:610829 OMIM:616268 ORPHA:79329 OMIM:615722 OMIM:615802 OMIM:311900 ORPHA:2886 OMIM:268400 OMIM:300523 OMIM:618947 ORPHA:466950

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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