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:
Abnormality of pelvic girdle bone morphology (HP:0002644)

Parent Node:
Abnormal hip bone morphology (HP:0003272)

..Starting node
..Hip dysplasia (HP:0001385)

Term ID:

1385

Name:

Hip dysplasia

Synonym:

Abnormal formation of the hip; Congenital hip dysplasia

Definition:

The presence of developmental dysplasia of the hip.

Comments:

Reference:

HP:0001385

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Abnormal ilium morphology (HP:0002867)

Abnormality of the ischium (HP:0003174)

Abnormality of the pubic bone (HP:0003172)

Arthralgia of the hip (HP:0003365)

Coxa magna (HP:0003279)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001385	HP:0001385	Hip dysplasia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1000	218	604539
HP:0001385	HP:0001385	Hip dysplasia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	920	218	604539
HP:0001385	HP:0001385	Hip dysplasia	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	467	566	603401
HP:0001385	HP:0001385	Hip dysplasia	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	356	566	603401
HP:0001385	HP:0001385	Hip dysplasia	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	625	714	611542
HP:0001385	HP:0001385	Hip dysplasia	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	583	714	611542
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	264	25567	612316
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	250	25567	612316
HP:0001385	HP:0001385	Hip dysplasia	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	160	857	108746
HP:0001385	HP:0001385	Hip dysplasia	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	168	857	108746
HP:0001385	HP:0001385	Hip dysplasia	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	1007	882	601215
HP:0001385	HP:0001385	Hip dysplasia	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	755	882	601215
HP:0001385	HP:0001385	Hip dysplasia	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	333	33499	606605
HP:0001385	HP:0001385	Hip dysplasia	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	239	33499	606605
HP:0001385	HP:0001385	Hip dysplasia	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	23	24856	0
HP:0001385	HP:0001385	Hip dysplasia	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1	47	25367	614145
HP:0001385	HP:0001385	Hip dysplasia	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1	95	25367	614145
HP:0001385	HP:0001385	Hip dysplasia	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	262	1856	117143
HP:0001385	HP:0001385	Hip dysplasia	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	252	1856	117143
HP:0001385	HP:0001385	Hip dysplasia	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	399	17272	609279
HP:0001385	HP:0001385	Hip dysplasia	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	347	17272	609279
HP:0001385	HP:0001385	Hip dysplasia	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	404	29298	613529
HP:0001385	HP:0001385	Hip dysplasia	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	334	29298	613529
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	1655	2197	120150
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	1397	2197	120150
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1203	2198	120160
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1042	2198	120160
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A1 CL E G H	1297	166002				ORPHA	1	744	2217	120210
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A1 CL E G H	1297	166002				ORPHA	1	594	2217	120210
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A2 CL E G H	1298	166002				ORPHA	1	479	2218	120260
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A2 CL E G H	1298	166002				ORPHA	1	336	2218	120260
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A3 CL E G H	1299	166002				ORPHA	1	703	2219	120270
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A3 CL E G H	1299	166002				ORPHA	1	464	2219	120270
HP:0001385	HP:0001385	Hip dysplasia	0	COMP CL E G H	1311	93308				ORPHA	1	375	2227	600310
HP:0001385	HP:0001385	Hip dysplasia	0	COMP CL E G H	1311	93308				ORPHA	1	287	2227	600310
HP:0001385	HP:0001385	Hip dysplasia	0	GDF5 CL E G H	8200	63442				ORPHA	1	149	4220	601146
HP:0001385	HP:0001385	Hip dysplasia	0	GDF5 CL E G H	8200	63442				ORPHA	1	124	4220	601146
HP:0001385	HP:0001385	Hip dysplasia	0	GMNN CL E G H	51053	616835	Meier-gorlin syndrome 6	616835	C4225188	OMIM	1	45	17493	602842
HP:0001385	HP:0001385	Hip dysplasia	0	GMNN CL E G H	51053	616835	Meier-gorlin syndrome 6	616835	C4225188	OMIM	1	39	17493	602842
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	111	5044	600712
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	108	5044	600712
HP:0001385	HP:0001385	Hip dysplasia	0	HSPG2 CL E G H	3339	800				ORPHA	1	1600	5273	142461
HP:0001385	HP:0001385	Hip dysplasia	0	HSPG2 CL E G H	3339	800				ORPHA	1	1327	5273	142461
HP:0001385	HP:0001385	Hip dysplasia	0	INPP5K CL E G H	51763	559				ORPHA	1	153	33882	607875
HP:0001385	HP:0001385	Hip dysplasia	0	INPP5K CL E G H	51763	559				ORPHA	1	145	33882	607875
HP:0001385	HP:0001385	Hip dysplasia	0	IRX5 CL E G H	10265	611174	Hamamy syndrome	611174	C1970027	OMIM	1	49	14361	606195
HP:0001385	HP:0001385	Hip dysplasia	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1143	24565	612452
HP:0001385	HP:0001385	Hip dysplasia	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1047	24565	612452
HP:0001385	HP:0001385	Hip dysplasia	0	MATN3 CL E G H	4148	93311				ORPHA	1	164	6909	602109
HP:0001385	HP:0001385	Hip dysplasia	0	MATN3 CL E G H	4148	93311				ORPHA	1	138	6909	602109
HP:0001385	HP:0001385	Hip dysplasia	0	MMP13 CL E G H	4322	2501	Glucose-6-phosphate translocase deficiency			ORPHA	1	188	7159	600108
HP:0001385	HP:0001385	Hip dysplasia	0	MMP13 CL E G H	4322	2501	Glucose-6-phosphate translocase deficiency			ORPHA	1	152	7159	600108
HP:0001385	HP:0001385	Hip dysplasia	0	NIN CL E G H	51199	614851	Seckel syndrome 7	614851	C3553870	OMIM	1	194	14906	608684
HP:0001385	HP:0001385	Hip dysplasia	0	NIN CL E G H	51199	614851	Seckel syndrome 7	614851	C3553870	OMIM	1	216	14906	608684
HP:0001385	HP:0001385	Hip dysplasia	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	1361	16068	605925
HP:0001385	HP:0001385	Hip dysplasia	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	1126	16068	605925
HP:0001385	HP:0001385	Hip dysplasia	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	672	26270	613629
HP:0001385	HP:0001385	Hip dysplasia	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	709	26270	613629
HP:0001385	HP:0001385	Hip dysplasia	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	30	28213	610662
HP:0001385	HP:0001385	Hip dysplasia	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	34	28213	610662
HP:0001385	HP:0001385	Hip dysplasia	0	PLK4 CL E G H	10733	808	Baker Vinters syndrome			ORPHA	1	339	11397	605031
HP:0001385	HP:0001385	Hip dysplasia	0	PLK4 CL E G H	10733	808	Baker Vinters syndrome			ORPHA	1	219	11397	605031
HP:0001385	HP:0001385	Hip dysplasia	0	RBBP8 CL E G H	5932	808	Baker Vinters syndrome			ORPHA	1	211	9891	604124
HP:0001385	HP:0001385	Hip dysplasia	0	RBBP8 CL E G H	5932	808	Baker Vinters syndrome			ORPHA	1	157	9891	604124
HP:0001385	HP:0001385	Hip dysplasia	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	385	29242	613293
HP:0001385	HP:0001385	Hip dysplasia	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	341	29242	613293
HP:0001385	HP:0001385	Hip dysplasia	0	SHPK CL E G H	23729	440713				ORPHA	1	145	1492	605060
HP:0001385	HP:0001385	Hip dysplasia	0	SHPK CL E G H	23729	440713				ORPHA	1	103	1492	605060
HP:0001385	HP:0001385	Hip dysplasia	0	SIL1 CL E G H	64374	559				ORPHA	1	217	24624	608005
HP:0001385	HP:0001385	Hip dysplasia	0	SIL1 CL E G H	64374	559				ORPHA	1	206	24624	608005
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	628				ORPHA	1	492	10994	606718
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	628				ORPHA	1	432	10994	606718
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	226900	Multiple epiphyseal dysplasia 4	226900	C1847593	OMIM	1	492	10994	606718
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	226900	Multiple epiphyseal dysplasia 4	226900	C1847593	OMIM	1	432	10994	606718
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	1509	Connective tissue dysplasia Spellacy type			ORPHA	1	234	11603	601719
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	1509	Connective tissue dysplasia Spellacy type			ORPHA	1	161	11603	601719
HP:0001385	HP:0001385	Hip dysplasia	0	TRAIP CL E G H	10293	808	Baker Vinters syndrome			ORPHA	1	47	30764	605958
HP:0001385	HP:0001385	Hip dysplasia	0	TRAIP CL E G H	10293	808	Baker Vinters syndrome			ORPHA	1	46	30764	605958
HP:0001385	HP:0001385	Hip dysplasia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	573	25751	614138
HP:0001385	HP:0001385	Hip dysplasia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	673	25751	614138
HP:0001385	HP:0001385	Hip dysplasia	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	703	18083	605427
HP:0001385	HP:0001385	Hip dysplasia	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	781	18083	605427
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	142669	Beukes hip dysplasia	142669	C1840572	OMIM	1	139	25640	611482
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	142669	Beukes hip dysplasia	142669	C1840572	OMIM	1	138	25640	611482
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	2114	Encephalopathy progressive optic atrophy			ORPHA	1	139	25640	611482
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	2114	Encephalopathy progressive optic atrophy			ORPHA	1	138	25640	611482
HP:0001385	HP:0001385	Hip dysplasia	0	UMPS CL E G H	7372	30				ORPHA	1	246	12563	613891
HP:0001385	HP:0001385	Hip dysplasia	0	UMPS CL E G H	7372	30				ORPHA	1	240	12563	613891
HP:0001385	HP:0001385	Hip dysplasia	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	161	20347	613401
HP:0001385	HP:0001385	Hip dysplasia	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	160	20347	613401
HP:0001385	HP:0001385	Hip dysplasia	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	272	12712	608552
HP:0001385	HP:0001385	Hip dysplasia	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	263	12712	608552
HP:0001385	HP:0001385	Hip dysplasia	0	WDR19 CL E G H	57728	614378	Cranioectodermal dysplasia 4	614378	C3280616	OMIM	1	642	18340	608151
HP:0001385	HP:0001385	Hip dysplasia	0	WDR19 CL E G H	57728	614378	Cranioectodermal dysplasia 4	614378	C3280616	OMIM	1	477	18340	608151
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001385	HP:0001385	Hip dysplasia	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	0	1184	21316	611192
HP:0001385	HP:0001385	Hip dysplasia	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	0	1101	21316	611192
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	496790				ORPHA	0	264	25567	612316
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	496790				ORPHA	0	250	25567	612316
HP:0001385	HP:0001385	Hip dysplasia	0	ATP7A CL E G H	538	198				ORPHA	0	1003	869	300011
HP:0001385	HP:0001385	Hip dysplasia	0	ATP7A CL E G H	538	198				ORPHA	0	897	869	300011
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	363454				ORPHA	0	506	17208	609797
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	363454				ORPHA	0	445	17208	609797
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	0	506	17208	609797
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	0	445	17208	609797
HP:0001385	HP:0001385	Hip dysplasia	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	163	2309	605032
HP:0001385	HP:0001385	Hip dysplasia	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	151	2309	605032
HP:0001385	HP:0001385	Hip dysplasia	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	174	2494	602618
HP:0001385	HP:0001385	Hip dysplasia	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	187	2494	602618
HP:0001385	HP:0001385	Hip dysplasia	0	DVL1 CL E G H	1855	3107				ORPHA	0	408	3084	601365
HP:0001385	HP:0001385	Hip dysplasia	0	DVL1 CL E G H	1855	3107				ORPHA	0	347	3084	601365
HP:0001385	HP:0001385	Hip dysplasia	0	DVL3 CL E G H	1857	3107				ORPHA	0	141	3087	601368
HP:0001385	HP:0001385	Hip dysplasia	0	DVL3 CL E G H	1857	3107				ORPHA	0	112	3087	601368
HP:0001385	HP:0001385	Hip dysplasia	0	EBP CL E G H	10682	35173				ORPHA	0	286	3133	300205
HP:0001385	HP:0001385	Hip dysplasia	0	EBP CL E G H	10682	35173				ORPHA	0	265	3133	300205
HP:0001385	HP:0001385	Hip dysplasia	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	0	648	3512	608177
HP:0001385	HP:0001385	Hip dysplasia	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	0	524	3512	608177
HP:0001385	HP:0001385	Hip dysplasia	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	267	3693	605830
HP:0001385	HP:0001385	Hip dysplasia	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	214	3693	605830
HP:0001385	HP:0001385	Hip dysplasia	0	FZD2 CL E G H	2535	3107				ORPHA	0	54	4040	600667
HP:0001385	HP:0001385	Hip dysplasia	0	FZD2 CL E G H	2535	3107				ORPHA	0	37	4040	600667
HP:0001385	HP:0001385	Hip dysplasia	0	GABRD CL E G H	2563	1606				ORPHA	0	361	4084	137163
HP:0001385	HP:0001385	Hip dysplasia	0	GABRD CL E G H	2563	1606				ORPHA	0	340	4084	137163
HP:0001385	HP:0001385	Hip dysplasia	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	287	13315	300269
HP:0001385	HP:0001385	Hip dysplasia	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	269	13315	300269
HP:0001385	HP:0001385	Hip dysplasia	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	622	4868	605837
HP:0001385	HP:0001385	Hip dysplasia	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	602	4868	605837
HP:0001385	HP:0001385	Hip dysplasia	0	HOXA11 CL E G H	3207	71289				ORPHA	0	48	5101	142958
HP:0001385	HP:0001385	Hip dysplasia	0	HOXA11 CL E G H	3207	71289				ORPHA	0	47	5101	142958
HP:0001385	HP:0001385	Hip dysplasia	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	318	6109	601491
HP:0001385	HP:0001385	Hip dysplasia	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	317	6109	601491
HP:0001385	HP:0001385	Hip dysplasia	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	91	6229	601142
HP:0001385	HP:0001385	Hip dysplasia	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	88	6229	601142
HP:0001385	HP:0001385	Hip dysplasia	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	974	7132	159555
HP:0001385	HP:0001385	Hip dysplasia	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	673	7132	159555
HP:0001385	HP:0001385	Hip dysplasia	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	188	6556	604407
HP:0001385	HP:0001385	Hip dysplasia	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	228	6556	604407
HP:0001385	HP:0001385	Hip dysplasia	0	LMNA CL E G H	4000	79474				ORPHA	0	1486	6636	150330
HP:0001385	HP:0001385	Hip dysplasia	0	LMNA CL E G H	4000	79474				ORPHA	0	1347	6636	150330
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	580	6814	605283
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	557	6814	605283
HP:0001385	HP:0001385	Hip dysplasia	0	MBD5 CL E G H	55777	228402				ORPHA	0	993	20444	611472
HP:0001385	HP:0001385	Hip dysplasia	0	MBD5 CL E G H	55777	228402				ORPHA	0	878	20444	611472
HP:0001385	HP:0001385	Hip dysplasia	0	MECOM CL E G H	2122	71289				ORPHA	0	80	3498	165215
HP:0001385	HP:0001385	Hip dysplasia	0	MECOM CL E G H	2122	71289				ORPHA	0	60	3498	165215
HP:0001385	HP:0001385	Hip dysplasia	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	344	7114	603856
HP:0001385	HP:0001385	Hip dysplasia	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	341	7114	603856
HP:0001385	HP:0001385	Hip dysplasia	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		12910	603857
HP:0001385	HP:0001385	Hip dysplasia	0	MYH7 CL E G H	4625	324604				ORPHA	0	3292	7577	160760
HP:0001385	HP:0001385	Hip dysplasia	0	MYH7 CL E G H	4625	324604				ORPHA	0	2960	7577	160760
HP:0001385	HP:0001385	Hip dysplasia	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	326	7675	602117
HP:0001385	HP:0001385	Hip dysplasia	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	321	7675	602117
HP:0001385	HP:0001385	Hip dysplasia	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	1069	28862	608667
HP:0001385	HP:0001385	Hip dysplasia	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	1003	28862	608667
HP:0001385	HP:0001385	Hip dysplasia	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	349	1190	610922
HP:0001385	HP:0001385	Hip dysplasia	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	351	1190	610922
HP:0001385	HP:0001385	Hip dysplasia	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	262	12766	602952
HP:0001385	HP:0001385	Hip dysplasia	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0	249	12766	602952
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM16 CL E G H	63976	1606				ORPHA	0	986	14000	605557
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM16 CL E G H	63976	1606				ORPHA	0	886	14000	605557
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM5 CL E G H	11107	90354				ORPHA	0	216	9349	614161
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM5 CL E G H	11107	90354				ORPHA	0	197	9349	614161
HP:0001385	HP:0001385	Hip dysplasia	0	PUF60 CL E G H	22827	508488				ORPHA	0	163	17042	604819
HP:0001385	HP:0001385	Hip dysplasia	0	PUF60 CL E G H	22827	508488				ORPHA	0	151	17042	604819
HP:0001385	HP:0001385	Hip dysplasia	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	319	30089	600161
HP:0001385	HP:0001385	Hip dysplasia	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	317	30089	600161
HP:0001385	HP:0001385	Hip dysplasia	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	328	33235	611215
HP:0001385	HP:0001385	Hip dysplasia	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	329	33235	611215
HP:0001385	HP:0001385	Hip dysplasia	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	254	9811	606462
HP:0001385	HP:0001385	Hip dysplasia	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	239	9811	606462
HP:0001385	HP:0001385	Hip dysplasia	0	RERE CL E G H	473	1606				ORPHA	0	257	9965	605226
HP:0001385	HP:0001385	Hip dysplasia	0	RERE CL E G H	473	1606				ORPHA	0	229	9965	605226
HP:0001385	HP:0001385	Hip dysplasia	0	SELENON CL E G H	57190	324604				ORPHA	0	505	15999	606210
HP:0001385	HP:0001385	Hip dysplasia	0	SELENON CL E G H	57190	324604				ORPHA	0	454	15999	606210
HP:0001385	HP:0001385	Hip dysplasia	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	492	25566	615743
HP:0001385	HP:0001385	Hip dysplasia	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	418	25566	615743
HP:0001385	HP:0001385	Hip dysplasia	0	SKI CL E G H	6497	1606				ORPHA	0	686	10896	164780
HP:0001385	HP:0001385	Hip dysplasia	0	SKI CL E G H	6497	1606				ORPHA	0	629	10896	164780
HP:0001385	HP:0001385	Hip dysplasia	0	SLC2A10 CL E G H	81031	3342				ORPHA	0	424	13444	606145
HP:0001385	HP:0001385	Hip dysplasia	0	SLC2A10 CL E G H	81031	3342				ORPHA	0	392	13444	606145
HP:0001385	HP:0001385	Hip dysplasia	0	SLC35A3 CL E G H	23443	370943				ORPHA	0	173	11023	605632
HP:0001385	HP:0001385	Hip dysplasia	0	SLC35A3 CL E G H	23443	370943				ORPHA	0	160	11023	605632
HP:0001385	HP:0001385	Hip dysplasia	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	690	11111	300040
HP:0001385	HP:0001385	Hip dysplasia	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	635	11111	300040
HP:0001385	HP:0001385	Hip dysplasia	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	322	2468	606062
HP:0001385	HP:0001385	Hip dysplasia	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	0	311	2468	606062
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	321	33020	609837
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	319	33020	609837
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	320	33067	605436
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	321	33067	605436
HP:0001385	HP:0001385	Hip dysplasia	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	398	11164	182279
HP:0001385	HP:0001385	Hip dysplasia	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	397	11164	182279
HP:0001385	HP:0001385	Hip dysplasia	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	321	11535	313650
HP:0001385	HP:0001385	Hip dysplasia	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	302	11535	313650
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	238578				ORPHA	0	234	11603	601719
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	238578				ORPHA	0	161	11603	601719
HP:0001385	HP:0001385	Hip dysplasia	0	TRPS1 CL E G H	7227	502	Acromegaloid hypertrichosis syndrome			ORPHA	0	336	12340	604386
HP:0001385	HP:0001385	Hip dysplasia	0	TRPS1 CL E G H	7227	502	Acromegaloid hypertrichosis syndrome			ORPHA	0	270	12340	604386
HP:0001385	HP:0001385	Hip dysplasia	0	TTN CL E G H	7273	324604				ORPHA	0	19028	12403	188840
HP:0001385	HP:0001385	Hip dysplasia	0	TTN CL E G H	7273	324604				ORPHA	0	17984	12403	188840
HP:0001385	HP:0001385	Hip dysplasia	0	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	0	514	12632	300072
HP:0001385	HP:0001385	Hip dysplasia	0	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	0	493	12632	300072
HP:0001385	HP:0001385	Hip dysplasia	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	0		12764	0
HP:0001385	HP:0001385	Hip dysplasia	0	WNT5A CL E G H	7474	3107				ORPHA	0	107	12784	164975
HP:0001385	HP:0001385	Hip dysplasia	0	WNT5A CL E G H	7474	3107				ORPHA	0	92	12784	164975
HP:0001385	HP:0001385	Hip dysplasia	0	ZNF469 CL E G H	84627	90354				ORPHA	0	1190	23216	612078
HP:0001385	HP:0001385	Hip dysplasia	0	ZNF469 CL E G H	84627	90354				ORPHA	0	916	23216	612078

Genes (100) :ADAMTS2 ANKRD11 AP3B1 ARSB ATAD3A ATP6V1E1 ATP7A ATR ATRIP BICD2 CCDC47 CCDC8 CENPE CENPJ CEP152 COL1A1 COL1A2 COL9A1 COL9A2 COL9A3 COMP CPLX1 CTBP1 DVL1 DVL3 EBP EXT1 FGFRL1 FZD2 GABRD GDF5 GMNN HDAC8 HERC2 HNRNPK HOXA11 HSPG2 INPP5K IPW IRX5 KANSL1 KCNAB2 KMT2A LETM1 LMNA MAGEL2 MATN3 MBD5 MECOM MKRN3 MKRN3-AS1 MMP13 MYH7 NDN NIN NIPBL NPAP1 NSD2 PCNT PIEZO2 PIGY PLK4 PRDM16 PRDM5 PUF60 PWAR1 PWRN1 RAD21 RBBP8 RERE SELENON SETD5 SH3PXD2B SHPK SIL1 SKI SLC26A2 SLC2A10 SLC35A3 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN TAF1 TBX4 TRAIP TRAPPC11 TRPS1 TRPV4 TTN UFSP2 UMPS USP9X VIPAS39 VPS33B WDR19 WHCR WNT5A ZNF469

Diseases (59) :1901 261250 608233 253200 496790 617183 617402 198 808 363454 615290 618268 614205 1899 166002 93308 194190 3107 35173 502 1606 63442 616835 199 176270 616580 71289 800 559 611174 610443 79474 93311 228402 2501 324604 614851 617146 616809 90354 508488 249420 440713 628 226900 3342 370943 300966 238578 1509 615356 181405 142669 2114 30 300968 613404 208085 614378

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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