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)

Parent Node:
Hypoplastic ilia (HP:0000946)

..Starting node
..Hypoplastic iliac wing (HP:0002866)

Term ID:

2866

Name:

Hypoplastic iliac wing

Synonym:

Hypoplastic iliac alae; Hypoplastic iliac wings; Small iliac wings

Definition:

Underdevelopment of the ilium ala.

Comments:

Reference:

HP:0002866

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic iliac body (HP:0008824)

Hypoplastic inferior ilia (HP:0008821)

Short iliac bones (HP:0100866)

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:0002866	HP:0002866	Hypoplastic iliac wing	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0002866	HP:0002866	Hypoplastic iliac wing	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13

Genes (31) :ARSB CCBE1 COL2A1 CREBBP CTSK DLK1 DYM EED EP300 ERCC6 ERCC8 EVC EVC2 EZH2 FN1 GATA1 HDAC6 IHH LAMA5 LYSET MEG3 NKX3-2 PCNT RIPK4 RTL1 RUNX2 SMAD4 SOX9 TBX15 TRAPPC2 WNT7A

Diseases (29) :OMIM:253200 OMIM:235510 OMIM:200610 ORPHA:93315 OMIM:180849 ORPHA:763 ORPHA:96334 OMIM:223800 OMIM:617561 OMIM:133540 OMIM:216400 OMIM:225500 OMIM:277590 OMIM:190685 OMIM:300863 ORPHA:163966 OMIM:607778 OMIM:620076 OMIM:619345 OMIM:613330 ORPHA:2637 OMIM:210720 OMIM:263650 OMIM:119600 OMIM:139210 OMIM:114290 OMIM:260660 OMIM:313400 OMIM:228930

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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