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:0000926	HP:0000926	Platyspondyly	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0000926	HP:0000926	Platyspondyly	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0000926	HP:0000926	Platyspondyly	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.		34
HP:0000926	HP:0000926	Platyspondyly	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type	HP:0040281 - Very frequent		34
HP:0000926	HP:0000926	Platyspondyly	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.		34
HP:0000926	HP:0000926	Platyspondyly	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040281 - Very frequent		16
HP:0000926	HP:0000926	Platyspondyly	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0000926	HP:0000926	Platyspondyly	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0000926	HP:0000926	Platyspondyly	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0000926	HP:0000926	Platyspondyly	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0000926	HP:0000926	Platyspondyly	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0000926	HP:0000926	Platyspondyly	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000926	HP:0000926	Platyspondyly	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0000926	HP:0000926	Platyspondyly	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0000926	HP:0000926	Platyspondyly	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000926	HP:0000926	Platyspondyly	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0000926	HP:0000926	Platyspondyly	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		38
HP:0000926	HP:0000926	Platyspondyly	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	HP:0011463 - Childhood onset	38
HP:0000926	HP:0000926	Platyspondyly	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:0000926	HP:0000926	Platyspondyly	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0000926	HP:0000926	Platyspondyly	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	.		49
HP:0000926	HP:0000926	Platyspondyly	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0000926	HP:0000926	Platyspondyly	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0000926	HP:0000926	Platyspondyly	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0000926	HP:0000926	Platyspondyly	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040281 - Very frequent
HP:0000926	HP:0000926	Platyspondyly	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000926	HP:0000926	Platyspondyly	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:0000926	HP:0000926	Platyspondyly	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent		67
HP:0000926	HP:0000926	Platyspondyly	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0000926	HP:0000926	Platyspondyly	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0000926	HP:0000926	Platyspondyly	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0000926	HP:0000926	Platyspondyly	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0000926	HP:0000926	Platyspondyly	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000926	HP:0000926	Platyspondyly	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.		222
HP:0000926	HP:0000926	Platyspondyly	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	HP:0011463 - Childhood onset	222
HP:0000926	HP:0000926	Platyspondyly	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0000926	HP:0000926	Platyspondyly	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.		222
HP:0000926	HP:0000926	Platyspondyly	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0000926	HP:0000926	Platyspondyly	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0000926	HP:0000926	Platyspondyly	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0000926	HP:0000926	Platyspondyly	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0000926	HP:0000926	Platyspondyly	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0000926	HP:0000926	Platyspondyly	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000926	HP:0000926	Platyspondyly	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000926	HP:0000926	Platyspondyly	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000926	HP:0000926	Platyspondyly	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0000926	HP:0000926	Platyspondyly	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0000926	HP:0000926	Platyspondyly	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0000926	HP:0000926	Platyspondyly	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000926	HP:0000926	Platyspondyly	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0000926	HP:0000926	Platyspondyly	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0000926	HP:0000926	Platyspondyly	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0000926	HP:0000926	Platyspondyly	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0000926	HP:0000926	Platyspondyly	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000926	HP:0000926	Platyspondyly	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0000926	HP:0000926	Platyspondyly	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0000926	HP:0000926	Platyspondyly	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0000926	HP:0000926	Platyspondyly	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0000926	HP:0000926	Platyspondyly	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent		3
HP:0000926	HP:0000926	Platyspondyly	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.		3
HP:0000926	HP:0000926	Platyspondyly	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0000926	HP:0000926	Platyspondyly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000926	HP:0000926	Platyspondyly	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent		145
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent		145
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0000926	HP:0000926	Platyspondyly	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0000926	HP:0000926	Platyspondyly	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040283 - Occasional		61
HP:0000926	HP:0000926	Platyspondyly	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.		61
HP:0000926	HP:0000926	Platyspondyly	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0000926	HP:0000926	Platyspondyly	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0000926	HP:0000926	Platyspondyly	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0000926	HP:0000926	Platyspondyly	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000926	HP:0000926	Platyspondyly	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0000926	HP:0000926	Platyspondyly	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0000926	HP:0000926	Platyspondyly	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0000926	HP:0000926	Platyspondyly	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0000926	HP:0000926	Platyspondyly	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.		120
HP:0000926	HP:0000926	Platyspondyly	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0000926	HP:0000926	Platyspondyly	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0000926	HP:0000926	Platyspondyly	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0000926	HP:0000926	Platyspondyly	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0000926	HP:0000926	Platyspondyly	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent		3
HP:0000926	HP:0000926	Platyspondyly	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0000926	HP:0000926	Platyspondyly	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0000926	HP:0000926	Platyspondyly	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0000926	HP:0000926	Platyspondyly	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0000926	HP:0000926	Platyspondyly	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000926	HP:0000926	Platyspondyly	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000926	HP:0000926	Platyspondyly	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0000926	HP:0000926	Platyspondyly	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0000926	HP:0000926	Platyspondyly	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.		8
HP:0000926	HP:0000926	Platyspondyly	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0000926	HP:0000926	Platyspondyly	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000926	HP:0000926	Platyspondyly	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0000926	HP:0000926	Platyspondyly	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0000926	HP:0000926	Platyspondyly	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0000926	HP:0000926	Platyspondyly	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0000926	HP:0000926	Platyspondyly	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0000926	HP:0000926	Platyspondyly	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.		70
HP:0000926	HP:0000926	Platyspondyly	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0000926	HP:0000926	Platyspondyly	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0000926	HP:0000926	Platyspondyly	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0000926	HP:0000926	Platyspondyly	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0000926	HP:0000926	Platyspondyly	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0000926	HP:0000926	Platyspondyly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000926	HP:0000926	Platyspondyly	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related			32
HP:0000926	HP:0000926	Platyspondyly	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000926	HP:0000926	Platyspondyly	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000926	HP:0000926	Platyspondyly	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.		52
HP:0000926	HP:0000926	Platyspondyly	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000926	HP:0000926	Platyspondyly	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0000926	HP:0000926	Platyspondyly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040284 - Very rare		101
HP:0000926	HP:0000926	Platyspondyly	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000926	HP:0000926	Platyspondyly	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000926	HP:0000926	Platyspondyly	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000926	HP:0000926	Platyspondyly	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0000926	HP:0000926	Platyspondyly	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000926	HP:0000926	Platyspondyly	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.		20
HP:0000926	HP:0000926	Platyspondyly	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000926	HP:0000926	Platyspondyly	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0000926	HP:0000926	Platyspondyly	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000926	HP:0000926	Platyspondyly	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000926	HP:0000926	Platyspondyly	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040283 - Occasional		45
HP:0000926	HP:0000926	Platyspondyly	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0000926	HP:0000926	Platyspondyly	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000926	HP:0000926	Platyspondyly	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare		150
HP:0000926	HP:0000926	Platyspondyly	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0000926	HP:0000926	Platyspondyly	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000926	HP:0000926	Platyspondyly	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0000926	HP:0000926	Platyspondyly	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0000926	HP:0000926	Platyspondyly	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0000926	HP:0000926	Platyspondyly	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0000926	HP:0000926	Platyspondyly	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.		53
HP:0000926	HP:0000926	Platyspondyly	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0000926	HP:0000926	Platyspondyly	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0000926	HP:0000926	Platyspondyly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0000926	HP:0000926	Platyspondyly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000926	HP:0000926	Platyspondyly	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0000926	HP:0000926	Platyspondyly	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000926	HP:0000926	Platyspondyly	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000926	HP:0000926	Platyspondyly	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.		90
HP:0000926	HP:0000926	Platyspondyly	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0000926	HP:0000926	Platyspondyly	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0000926	HP:0000926	Platyspondyly	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0000926	HP:0000926	Platyspondyly	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	HP:0040284 - Very rare
HP:0000926	HP:0000926	Platyspondyly	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000926	HP:0000926	Platyspondyly	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0000926	HP:0000926	Platyspondyly	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0000926	HP:0000926	Platyspondyly	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0000926	HP:0000926	Platyspondyly	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0000926	HP:0000926	Platyspondyly	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		24
HP:0000926	HP:0000926	Platyspondyly	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent		504
HP:0000926	HP:0000926	Platyspondyly	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000926	HP:0000926	Platyspondyly	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0000926	HP:0000926	Platyspondyly	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0000926	HP:0000926	Platyspondyly	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0000926	HP:0000926	Platyspondyly	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000926	HP:0000926	Platyspondyly	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0000926	HP:0000926	Platyspondyly	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000926	HP:0000926	Platyspondyly	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0000926	HP:0000926	Platyspondyly	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040281 - Very frequent
HP:0000926	HP:0000926	Platyspondyly	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000926	HP:0000926	Platyspondyly	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent		46
HP:0000926	HP:0000926	Platyspondyly	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0000926	HP:0000926	Platyspondyly	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent		133
HP:0000926	HP:0000926	Platyspondyly	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	HP:0003623 - Neonatal onset	133
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent		214
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.		214
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.		214
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	OMIM:184095	Spondyloepiphyseal dysplasia, Maroteaux type	.		214
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent		214
HP:0000926	HP:0000926	Platyspondyly	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.		214
HP:0000926	HP:0000926	Platyspondyly	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0000926	HP:0000926	Platyspondyly	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.		12
HP:0000926	HP:0000926	Platyspondyly	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000926	HP:0000926	Platyspondyly	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0000926	HP:0000926	Platyspondyly	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000926	HP:0005752	Flattened moderately deformed vertebrae	1	CL E G H
HP:0000926	HP:0003321	Biconcave flattened vertebrae	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0000926	HP:0003321	Biconcave flattened vertebrae	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0000926	HP:0003321	Biconcave flattened vertebrae	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0000926	HP:0005787	Lumbar platyspondyly	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0000926	HP:0004592	Thoracic platyspondyly	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0000926	HP:0004565	Severe platyspondyly	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0000926	HP:0008418	Squared-off platyspondyly	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0000926	HP:0004558	Cervical platyspondyly	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000926	HP:0004565	Severe platyspondyly	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040281 - Very frequent		3
HP:0000926	HP:0004565	Severe platyspondyly	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0000926	HP:0004565	Severe platyspondyly	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0000926	HP:0004592	Thoracic platyspondyly	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0000926	HP:0004558	Cervical platyspondyly	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0000926	HP:0004565	Severe platyspondyly	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0000926	HP:0004598	Supernumerary vertebral ossification centers	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.		70
HP:0000926	HP:0004592	Thoracic platyspondyly	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0000926	HP:0004598	Supernumerary vertebral ossification centers	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.		13
HP:0000926	HP:0004565	Severe platyspondyly	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000926	HP:0004565	Severe platyspondyly	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	HP:0011463 - Childhood onset	11
HP:0000926	HP:0004592	Thoracic platyspondyly	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000926	HP:0005787	Lumbar platyspondyly	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000926	HP:0004592	Thoracic platyspondyly	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000926	HP:0004592	Thoracic platyspondyly	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000926	HP:0004558	Cervical platyspondyly	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214
HP:0000926	HP:0008452	Wafer-thin platyspondyly	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284