Human Phenotype Ontology

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:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type		34
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma		57
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension		55
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent	2
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010574	HP:0010574	Abnormality of the epiphysis of the femoral head	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.	34
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0010574	HP:0008789	Cone-shaped capital femoral epiphysis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0010574	HP:0003371	Enlargement of the proximal femoral epiphysis	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0010574	HP:0003371	Enlargement of the proximal femoral epiphysis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010574	HP:0003371	Enlargement of the proximal femoral epiphysis	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia		89
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0010574	HP:0008797	Early ossification of capital femoral epiphyses	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010574	HP:0006450	Multicentric ossification of proximal femoral epiphyses	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010574	HP:0008789	Cone-shaped capital femoral epiphysis	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0010574	HP:0008797	Early ossification of capital femoral epiphyses	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040281 - Very frequent	32
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0010574	HP:0008784	Wide capital femoral epiphyses	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0010574	HP:0006461	Proximal femoral epiphysiolysis	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0010574	HP:0008784	Wide capital femoral epiphyses	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0010574	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	1	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked		46
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0010574	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0010574	HP:0005041	Irregular capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0010574	HP:0003370	Flat capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010574	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010574	HP:0008820	Absent ossification of capital femoral epiphysis	2	CL E G H
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0010574	HP:0003090	Hypoplasia of the capital femoral epiphysis	2	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46