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:0010306	HP:0010306	Short thorax	0	ACAN CL E G H	176	319	ORPHA:93283	Spondyloepiphyseal dysplasia, Kimberley type	HP:0040281 - Very frequent	34
HP:0010306	HP:0010306	Short thorax	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0010306	HP:0010306	Short thorax	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0010306	HP:0010306	Short thorax	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0010306	HP:0010306	Short thorax	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	7
HP:0010306	HP:0010306	Short thorax	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0010306	HP:0010306	Short thorax	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0010306	HP:0010306	Short thorax	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0010306	HP:0010306	Short thorax	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0010306	HP:0010306	Short thorax	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0010306	HP:0010306	Short thorax	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0010306	HP:0010306	Short thorax	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	304
HP:0010306	HP:0010306	Short thorax	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0010306	HP:0010306	Short thorax	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent
HP:0010306	HP:0010306	Short thorax	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0010306	HP:0010306	Short thorax	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent
HP:0010306	HP:0010306	Short thorax	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0010306	HP:0010306	Short thorax	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0010306	HP:0010306	Short thorax	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	7
HP:0010306	HP:0010306	Short thorax	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0010306	HP:0010306	Short thorax	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0010306	HP:0010306	Short thorax	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0010306	HP:0010306	Short thorax	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0010306	HP:0010306	Short thorax	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0010306	HP:0010306	Short thorax	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0010306	HP:0010306	Short thorax	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0010306	HP:0010306	Short thorax	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	10
HP:0010306	HP:0010306	Short thorax	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0010306	HP:0010306	Short thorax	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0010306	HP:0010306	Short thorax	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0010306	HP:0010306	Short thorax	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	148
HP:0010306	HP:0010306	Short thorax	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010306	HP:0010306	Short thorax	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	48
HP:0010306	HP:0010306	Short thorax	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0010306	HP:0010306	Short thorax	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	65
HP:0010306	HP:0010306	Short thorax	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0010306	HP:0010306	Short thorax	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040283 - Occasional	44
HP:0010306	HP:0010306	Short thorax	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	13
HP:0010306	HP:0010306	Short thorax	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010306	HP:0010306	Short thorax	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0010306	HP:0010306	Short thorax	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0010306	HP:0010306	Short thorax	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0010306	HP:0010306	Short thorax	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0010306	HP:0010306	Short thorax	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	.	143
HP:0010306	HP:0010306	Short thorax	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0010306	HP:0010306	Short thorax	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0010306	HP:0010306	Short thorax	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0010306	HP:0010306	Short thorax	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0010306	HP:0010306	Short thorax	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0010306	HP:0010306	Short thorax	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	3
HP:0010306	HP:0010306	Short thorax	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0010306	HP:0010306	Short thorax	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0010306	HP:0010306	Short thorax	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0010306	HP:0010306	Short thorax	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0010306	HP:0010306	Short thorax	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0010306	HP:0010306	Short thorax	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0010306	HP:0010306	Short thorax	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0010306	HP:0010306	Short thorax	0	TRPV4 CL E G H	59341	18083	ORPHA:93304	Autosomal dominant brachyolmia	HP:0040281 - Very frequent	214
HP:0010306	HP:0010306	Short thorax	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	132
HP:0010306	HP:0010306	Short thorax	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040281 - Very frequent	95
HP:0010306	HP:0010306	Short thorax	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136