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 hip bone morphology (HP:0003272)

Parent Node:
Abnormal ilium morphology (HP:0002867)

..Starting node
..Hypoplastic ilia (HP:0000946)

Term ID:

946

Name:

Hypoplastic ilia

Synonym:

Short and small iliac bones; Small iliac bones; Small wings of the pelvic girdle

Definition:

Underdevelopment of the ilium.

Comments:

Reference:

HP:0000946

Genes and Diseases:

Child Nodes:

........

Hypoplastic iliac wing (HP:0002866)

........

Hypoplastic inferior ilia (HP:0008821)

........

Hypoplastic iliac body (HP:0008824)

........

Short iliac bones (HP:0100866)

Sister Nodes:

Abnormal iliac wing morphology (HP:0011867)

Abnormal sacroiliac joint morphology (HP:0100781)

Irregular iliac crest (HP:0003796)

Snail-like ilia (HP:0031026)

Squared iliac bones (HP:0003177)

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:0000946	HP:0000946	Hypoplastic ilia	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0000946	HP:0000946	Hypoplastic ilia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000946	HP:0000946	Hypoplastic ilia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0000946	HP:0000946	Hypoplastic ilia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0000946	HP:0000946	Hypoplastic ilia	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0000946	HP:0000946	Hypoplastic ilia	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0000946	HP:0000946	Hypoplastic ilia	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000946	HP:0000946	Hypoplastic ilia	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0000946	HP:0000946	Hypoplastic ilia	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000946	HP:0000946	Hypoplastic ilia	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000946	HP:0000946	Hypoplastic ilia	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000946	HP:0000946	Hypoplastic ilia	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0000946	HP:0000946	Hypoplastic ilia	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0000946	HP:0000946	Hypoplastic ilia	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000946	HP:0000946	Hypoplastic ilia	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000946	HP:0000946	Hypoplastic ilia	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000946	HP:0000946	Hypoplastic ilia	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000946	HP:0000946	Hypoplastic ilia	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000946	HP:0000946	Hypoplastic ilia	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000946	HP:0000946	Hypoplastic ilia	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0000946	HP:0000946	Hypoplastic ilia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000946	HP:0000946	Hypoplastic ilia	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0000946	HP:0000946	Hypoplastic ilia	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000946	HP:0000946	Hypoplastic ilia	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0000946	HP:0000946	Hypoplastic ilia	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000946	HP:0000946	Hypoplastic ilia	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0000946	HP:0000946	Hypoplastic ilia	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000946	HP:0000946	Hypoplastic ilia	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0000946	HP:0000946	Hypoplastic ilia	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia		2
HP:0000946	HP:0000946	Hypoplastic ilia	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0000946	HP:0000946	Hypoplastic ilia	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000946	HP:0000946	Hypoplastic ilia	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000946	HP:0000946	Hypoplastic ilia	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0000946	HP:0000946	Hypoplastic ilia	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0000946	HP:0000946	Hypoplastic ilia	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0000946	HP:0000946	Hypoplastic ilia	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000946	HP:0000946	Hypoplastic ilia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000946	HP:0000946	Hypoplastic ilia	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000946	HP:0000946	Hypoplastic ilia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0000946	HP:0000946	Hypoplastic ilia	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000946	HP:0000946	Hypoplastic ilia	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0000946	HP:0000946	Hypoplastic ilia	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0000946	HP:0000946	Hypoplastic ilia	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000946	HP:0000946	Hypoplastic ilia	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0000946	HP:0000946	Hypoplastic ilia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040282 - Frequent	11
HP:0000946	HP:0000946	Hypoplastic ilia	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000946	HP:0000946	Hypoplastic ilia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000946	HP:0000946	Hypoplastic ilia	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0000946	HP:0000946	Hypoplastic ilia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000946	HP:0000946	Hypoplastic ilia	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0000946	HP:0000946	Hypoplastic ilia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000946	HP:0000946	Hypoplastic ilia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0000946	HP:0000946	Hypoplastic ilia	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000946	HP:0000946	Hypoplastic ilia	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0000946	HP:0000946	Hypoplastic ilia	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000946	HP:0000946	Hypoplastic ilia	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0000946	HP:0000946	Hypoplastic ilia	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0000946	HP:0000946	Hypoplastic ilia	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000946	HP:0000946	Hypoplastic ilia	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000946	HP:0000946	Hypoplastic ilia	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000946	HP:0000946	Hypoplastic ilia	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0000946	HP:0000946	Hypoplastic ilia	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0000946	HP:0000946	Hypoplastic ilia	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0000946	HP:0000946	Hypoplastic ilia	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0000946	HP:0000946	Hypoplastic ilia	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0000946	HP:0000946	Hypoplastic ilia	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0000946	HP:0100866	Short iliac bones	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0000946	HP:0008824	Hypoplastic iliac body	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0000946	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:0000946	HP:0100866	Short iliac bones	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000946	HP:0008824	Hypoplastic iliac body	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000946	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:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000946	HP:0008824	Hypoplastic iliac body	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000946	HP:0008821	Hypoplastic inferior ilia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000946	HP:0008821	Hypoplastic inferior ilia	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0000946	HP:0008824	Hypoplastic iliac body	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000946	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:0000946	HP:0002866	Hypoplastic iliac wing	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000946	HP:0008821	Hypoplastic inferior ilia	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0000946	HP:0008821	Hypoplastic inferior ilia	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000946	HP:0002866	Hypoplastic iliac wing	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0000946	HP:0100866	Short iliac bones	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000946	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

Genes (55) :ACP5 ARSB B3GALT6 CCBE1 COL11A1 COL11A2 COL2A1 CREBBP CTSK DLK1 DYM EED EP300 ERCC6 ERCC8 EVC EVC2 EXOC6B EZH2 FGFR3 FLNA FLNB FN1 GATA1 HDAC6 HSPG2 IFT81 IHH INPPL1 KAT6B LAMA5 LIFR LYSET MAN2B1 MEG3 NKX3-2 PCNT PCYT1A POLR3A POP1 RIPK4 RMRP RNU4ATAC RPS19 RTL1 RUNX2 SLC26A2 SLC35D1 SMAD4 SOX9 TBX15 TMEM67 TRAPPC2 WDR19 WNT7A

Diseases (66) :ORPHA:1855 OMIM:607944 OMIM:253200 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:235510 OMIM:154780 OMIM:614524 ORPHA:93296 OMIM:200610 OMIM:151210 OMIM:616583 ORPHA:93315 ORPHA:93316 OMIM:180849 ORPHA:763 ORPHA:96334 OMIM:223800 ORPHA:239 OMIM:617561 OMIM:133540 OMIM:216400 OMIM:225500 OMIM:277590 ORPHA:1860 OMIM:187600 OMIM:187601 OMIM:304120 OMIM:112310 OMIM:190685 OMIM:300863 ORPHA:163966 ORPHA:1865 OMIM:617895 OMIM:607778 ORPHA:3144 ORPHA:85201 OMIM:620076 OMIM:601559 OMIM:619345 ORPHA:309282 OMIM:613330 ORPHA:2637 OMIM:210720 OMIM:608940 ORPHA:85167 OMIM:264090 ORPHA:3455 OMIM:617396 OMIM:263650 OMIM:607095 OMIM:210710 OMIM:105650 ORPHA:1452 OMIM:119600 OMIM:600972 OMIM:139210 ORPHA:140 OMIM:114290 OMIM:260660 ORPHA:93333 ORPHA:140976 OMIM:313400 OMIM:614376 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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