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:0000592	HP:0000592	Blue sclerae	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0000592	HP:0000592	Blue sclerae	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000592	HP:0000592	Blue sclerae	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0000592	HP:0000592	Blue sclerae	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0000592	HP:0000592	Blue sclerae	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000592	HP:0000592	Blue sclerae	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0000592	HP:0000592	Blue sclerae	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0000592	HP:0000592	Blue sclerae	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0000592	HP:0000592	Blue sclerae	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0000592	HP:0000592	Blue sclerae	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000592	HP:0000592	Blue sclerae	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000592	HP:0000592	Blue sclerae	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000592	HP:0000592	Blue sclerae	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0000592	HP:0000592	Blue sclerae	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0000592	HP:0000592	Blue sclerae	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000592	HP:0000592	Blue sclerae	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0000592	HP:0000592	Blue sclerae	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000592	HP:0000592	Blue sclerae	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000592	HP:0000592	Blue sclerae	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000592	HP:0000592	Blue sclerae	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0000592	HP:0000592	Blue sclerae	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0000592	HP:0000592	Blue sclerae	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0000592	HP:0000592	Blue sclerae	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0000592	HP:0000592	Blue sclerae	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0000592	HP:0000592	Blue sclerae	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0000592	HP:0000592	Blue sclerae	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0000592	HP:0000592	Blue sclerae	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	HP:0003577 - Congenital onset	373
HP:0000592	HP:0000592	Blue sclerae	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000592	HP:0000592	Blue sclerae	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2			243
HP:0000592	HP:0000592	Blue sclerae	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0000592	HP:0000592	Blue sclerae	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	HP:0003577 - Congenital onset	243
HP:0000592	HP:0000592	Blue sclerae	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000592	HP:0000592	Blue sclerae	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0000592	HP:0000592	Blue sclerae	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0000592	HP:0000592	Blue sclerae	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0000592	HP:0000592	Blue sclerae	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0000592	HP:0000592	Blue sclerae	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0000592	HP:0000592	Blue sclerae	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0000592	HP:0000592	Blue sclerae	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040282 - Frequent		39
HP:0000592	HP:0000592	Blue sclerae	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0000592	HP:0000592	Blue sclerae	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0000592	HP:0000592	Blue sclerae	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0000592	HP:0000592	Blue sclerae	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000592	HP:0000592	Blue sclerae	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000592	HP:0000592	Blue sclerae	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000592	HP:0000592	Blue sclerae	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000592	HP:0000592	Blue sclerae	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0000592	HP:0000592	Blue sclerae	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0000592	HP:0000592	Blue sclerae	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000592	HP:0000592	Blue sclerae	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0000592	HP:0000592	Blue sclerae	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000592	HP:0000592	Blue sclerae	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0000592	HP:0000592	Blue sclerae	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0000592	HP:0000592	Blue sclerae	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000592	HP:0000592	Blue sclerae	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000592	HP:0000592	Blue sclerae	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000592	HP:0000592	Blue sclerae	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	HP:0040283 - Occasional		98
HP:0000592	HP:0000592	Blue sclerae	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional		98
HP:0000592	HP:0000592	Blue sclerae	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000592	HP:0000592	Blue sclerae	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000592	HP:0000592	Blue sclerae	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0000592	HP:0000592	Blue sclerae	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0000592	HP:0000592	Blue sclerae	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0000592	HP:0000592	Blue sclerae	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0000592	HP:0000592	Blue sclerae	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040283 - Occasional		18
HP:0000592	HP:0000592	Blue sclerae	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0000592	HP:0000592	Blue sclerae	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000592	HP:0000592	Blue sclerae	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000592	HP:0000592	Blue sclerae	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000592	HP:0000592	Blue sclerae	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0000592	HP:0000592	Blue sclerae	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000592	HP:0000592	Blue sclerae	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000592	HP:0000592	Blue sclerae	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000592	HP:0000592	Blue sclerae	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0000592	HP:0000592	Blue sclerae	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000592	HP:0000592	Blue sclerae	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare		125
HP:0000592	HP:0000592	Blue sclerae	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000592	HP:0000592	Blue sclerae	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0000592	HP:0000592	Blue sclerae	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0000592	HP:0000592	Blue sclerae	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000592	HP:0000592	Blue sclerae	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000592	HP:0000592	Blue sclerae	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000592	HP:0000592	Blue sclerae	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0000592	HP:0000592	Blue sclerae	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040282 - Frequent		150
HP:0000592	HP:0000592	Blue sclerae	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000592	HP:0000592	Blue sclerae	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent		40
HP:0000592	HP:0000592	Blue sclerae	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000592	HP:0000592	Blue sclerae	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0000592	HP:0000592	Blue sclerae	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		2
HP:0000592	HP:0000592	Blue sclerae	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2	HP:0040283 - Occasional		3
HP:0000592	HP:0000592	Blue sclerae	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0000592	HP:0000592	Blue sclerae	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000592	HP:0000592	Blue sclerae	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0000592	HP:0000592	Blue sclerae	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000592	HP:0000592	Blue sclerae	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare		138
HP:0000592	HP:0000592	Blue sclerae	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000592	HP:0000592	Blue sclerae	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.		39
HP:0000592	HP:0000592	Blue sclerae	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000592	HP:0000592	Blue sclerae	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000592	HP:0000592	Blue sclerae	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000592	HP:0000592	Blue sclerae	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000592	HP:0000592	Blue sclerae	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.		58
HP:0000592	HP:0000592	Blue sclerae	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000592	HP:0000592	Blue sclerae	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0000592	HP:0000592	Blue sclerae	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0000592	HP:0000592	Blue sclerae	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000592	HP:0000592	Blue sclerae	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0000592	HP:0000592	Blue sclerae	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0000592	HP:0000592	Blue sclerae	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0000592	HP:0000592	Blue sclerae	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0000592	HP:0000592	Blue sclerae	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000592	HP:0000592	Blue sclerae	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent		5
HP:0000592	HP:0000592	Blue sclerae	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0000592	HP:0000592	Blue sclerae	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0000592	HP:0000592	Blue sclerae	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent		166
HP:0000592	HP:0000592	Blue sclerae	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0000592	HP:0000592	Blue sclerae	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		24
HP:0000592	HP:0000592	Blue sclerae	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000592	HP:0000592	Blue sclerae	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000592	HP:0000592	Blue sclerae	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0000592	HP:0000592	Blue sclerae	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000592	HP:0000592	Blue sclerae	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0000592	HP:0000592	Blue sclerae	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000592	HP:0000592	Blue sclerae	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0000592	HP:0000592	Blue sclerae	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000592	HP:0000592	Blue sclerae	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0000592	HP:0000592	Blue sclerae	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000592	HP:0000592	Blue sclerae	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0000592	HP:0000592	Blue sclerae	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000592	HP:0000592	Blue sclerae	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000592	HP:0000592	Blue sclerae	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV			12
HP:0000592	HP:0000592	Blue sclerae	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000592	HP:0000592	Blue sclerae	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000592	HP:0000592	Blue sclerae	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0000592	HP:0000592	Blue sclerae	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000592	HP:0000592	Blue sclerae	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397