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:0005819	HP:0005819	Short middle phalanx of finger	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0005819	HP:0005819	Short middle phalanx of finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0005819	HP:0005819	Short middle phalanx of finger	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0005819	HP:0005819	Short middle phalanx of finger	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0005819	HP:0005819	Short middle phalanx of finger	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0005819	HP:0005819	Short middle phalanx of finger	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0005819	HP:0005819	Short middle phalanx of finger	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0005819	HP:0005819	Short middle phalanx of finger	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0005819	HP:0005819	Short middle phalanx of finger	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040281 - Very frequent	52
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0005819	HP:0005819	Short middle phalanx of finger	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0005819	HP:0005819	Short middle phalanx of finger	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0005819	HP:0005819	Short middle phalanx of finger	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0005819	HP:0005819	Short middle phalanx of finger	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0005819	HP:0005819	Short middle phalanx of finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0005819	HP:0005819	Short middle phalanx of finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0005819	HP:0005819	Short middle phalanx of finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0005819	HP:0005819	Short middle phalanx of finger	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0005819	HP:0005819	Short middle phalanx of finger	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0005819	HP:0005819	Short middle phalanx of finger	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0005819	HP:0005819	Short middle phalanx of finger	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0005819	HP:0005819	Short middle phalanx of finger	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0005819	HP:0005819	Short middle phalanx of finger	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0005819	HP:0005819	Short middle phalanx of finger	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent	1
HP:0005819	HP:0005819	Short middle phalanx of finger	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0005819	HP:0005819	Short middle phalanx of finger	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040281 - Very frequent	35
HP:0005819	HP:0005819	Short middle phalanx of finger	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005819	HP:0005819	Short middle phalanx of finger	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0005819	HP:0005819	Short middle phalanx of finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0005819	HP:0005819	Short middle phalanx of finger	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0005819	HP:0005819	Short middle phalanx of finger	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0005819	HP:0005819	Short middle phalanx of finger	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0005819	HP:0005819	Short middle phalanx of finger	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0005819	HP:0005819	Short middle phalanx of finger	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0005819	HP:0005819	Short middle phalanx of finger	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0005819	HP:0005819	Short middle phalanx of finger	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0005819	HP:0005819	Short middle phalanx of finger	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0005819	HP:0005819	Short middle phalanx of finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0005819	HP:0005819	Short middle phalanx of finger	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0005819	HP:0005819	Short middle phalanx of finger	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0005819	HP:0005819	Short middle phalanx of finger	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005819	HP:0005819	Short middle phalanx of finger	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0005819	HP:0005819	Short middle phalanx of finger	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0005819	HP:0005819	Short middle phalanx of finger	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0005819	HP:0005819	Short middle phalanx of finger	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0005819	HP:0005819	Short middle phalanx of finger	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0005819	HP:0005819	Short middle phalanx of finger	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0005819	HP:0009638	Short proximal phalanx of thumb	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0005819	HP:0009295	Short middle phalanx of the 4th finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0005819	HP:0009439	Short middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0005819	HP:0009439	Short middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0005819	HP:0009638	Short proximal phalanx of thumb	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005819	HP:0009638	Short proximal phalanx of thumb	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0005819	HP:0009295	Short middle phalanx of the 4th finger	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0005819	HP:0009295	Short middle phalanx of the 4th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0005819	HP:0006110	Shortening of all middle phalanges of the fingers	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005819	HP:0009577	Short middle phalanx of the 2nd finger	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040282 - Frequent	104
HP:0005819	HP:0004220	Short middle phalanx of the 5th finger	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98