Human Phenotype Ontology

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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 ilium morphology (HP:0002867)

Parent Node:
Abnormal iliac wing morphology (HP:0011867)

..Starting node
..Flared iliac wing (HP:0002869)

Term ID:

2869

Name:

Flared iliac wing

Synonym:

Flared iliac wings

Definition:

Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.

Comments:

Reference:

HP:0002869

Genes and Diseases:

Child Nodes:

Sister Nodes:

Constricted iliac wing (HP:0003277)

Dysplastic iliac wing (HP:0008794)

High iliac wing (HP:0008808)

Hypoplastic iliac wing (HP:0002866)

Large iliac wing (HP:0008818)

Narrow iliac wing (HP:0002868)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002869	HP:0002869	Flared iliac wing	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0002869	HP:0002869	Flared iliac wing	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002869	HP:0002869	Flared iliac wing	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0002869	HP:0002869	Flared iliac wing	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0002869	HP:0002869	Flared iliac wing	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002869	HP:0002869	Flared iliac wing	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0002869	HP:0002869	Flared iliac wing	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002869	HP:0002869	Flared iliac wing	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0002869	HP:0002869	Flared iliac wing	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0002869	HP:0002869	Flared iliac wing	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0002869	HP:0002869	Flared iliac wing	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002869	HP:0002869	Flared iliac wing	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0002869	HP:0002869	Flared iliac wing	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002869	HP:0002869	Flared iliac wing	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002869	HP:0002869	Flared iliac wing	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0002869	HP:0002869	Flared iliac wing	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0002869	HP:0002869	Flared iliac wing	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0002869	HP:0002869	Flared iliac wing	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0002869	HP:0002869	Flared iliac wing	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0002869	HP:0002869	Flared iliac wing	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional		217
HP:0002869	HP:0002869	Flared iliac wing	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002869	HP:0002869	Flared iliac wing	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0002869	HP:0002869	Flared iliac wing	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0002869	HP:0002869	Flared iliac wing	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0002869	HP:0002869	Flared iliac wing	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0002869	HP:0002869	Flared iliac wing	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1

Genes (22) :AIFM1 ARSB B3GALT6 BGN CREBBP DDR2 EP300 FLNA GLB1 GNPTAB GNPTG GPC3 GPC4 GPX4 IDUA IHH MMP13 PHEX RAB23 TRIP11 TRPV4 VPS33A

Diseases (24) :OMIM:300232 OMIM:253200 OMIM:271640 OMIM:300106 OMIM:180849 OMIM:271665 ORPHA:90652 ORPHA:79255 OMIM:230650 OMIM:252500 OMIM:252605 OMIM:312870 OMIM:250220 OMIM:607014 OMIM:607778 ORPHA:63446 OMIM:602111 ORPHA:89936 OMIM:201000 OMIM:184260 OMIM:156530 ORPHA:93314 OMIM:184252 OMIM:617303

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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