Human Phenotype Ontology

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:0011867	HP:0011867	Abnormal iliac wing morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040282 - Frequent		222
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type			284
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional		145
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		3
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III			120
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia			44
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type			52
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome			65
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked			46
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		111
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0011867	HP:0011867	Abnormal iliac wing morphology	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0011867	HP:0002869	Flared iliac wing	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0011867	HP:0008818	Large iliac wing	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0011867	HP:0008808	High iliac wing	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0011867	HP:0002869	Flared iliac wing	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0011867	HP:0008818	Large iliac wing	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0011867	HP:0002869	Flared iliac wing	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0011867	HP:0008818	Large iliac wing	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0011867	HP:0002869	Flared iliac wing	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0011867	HP:0002868	Narrow iliac wing	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		284
HP:0011867	HP:0002869	Flared iliac wing	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0011867	HP:0002868	Narrow iliac wing	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0011867	HP:0002869	Flared iliac wing	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	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:0011867	HP:0002866	Hypoplastic iliac wing	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0011867	HP:0002868	Narrow iliac wing	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011867	HP:0002869	Flared iliac wing	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0011867	HP:0002869	Flared iliac wing	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		9
HP:0011867	HP:0003277	Constricted iliac wing	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0011867	HP:0002869	Flared iliac wing	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0011867	HP:0002869	Flared iliac wing	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0011867	HP:0003277	Constricted iliac wing	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0011867	HP:0002869	Flared iliac wing	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0011867	HP:0002869	Flared iliac wing	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0011867	HP:0002869	Flared iliac wing	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011867	HP:0002869	Flared iliac wing	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011867	HP:0002869	Flared iliac wing	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0011867	HP:0002869	Flared iliac wing	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0011867	HP:0002869	Flared iliac wing	1	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent		44
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011867	HP:0002869	Flared iliac wing	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0011867	HP:0008794	Dysplastic iliac wing	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.		32
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	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:0011867	HP:0002869	Flared iliac wing	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0011867	HP:0002868	Narrow iliac wing	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0011867	HP:0002868	Narrow iliac wing	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0011867	HP:0002869	Flared iliac wing	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional		217
HP:0011867	HP:0033701	Cortical sclerosis of the iliac wing	1	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0011867	HP:0008808	High iliac wing	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0011867	HP:0002869	Flared iliac wing	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011867	HP:0008818	Large iliac wing	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0011867	HP:0002868	Narrow iliac wing	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011867	HP:0002868	Narrow iliac wing	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0011867	HP:0002868	Narrow iliac wing	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011867	HP:0008808	High iliac wing	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0011867	HP:0008808	High iliac wing	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0011867	HP:0002868	Narrow iliac wing	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0011867	HP:0008818	Large iliac wing	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0011867	HP:0002868	Narrow iliac wing	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0011867	HP:0002869	Flared iliac wing	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0011867	HP:0002869	Flared iliac wing	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0011867	HP:0002869	Flared iliac wing	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0011867	HP:0002869	Flared iliac wing	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0011867	HP:0002869	Flared iliac wing	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0011867	HP:0002866	Hypoplastic iliac wing	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly			13
HP:0011867	HP:0002868	Narrow iliac wing	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent		17
HP:0011867	HP:0002868	Narrow iliac wing	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17