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:0009803	HP:0009803	Short phalanx of finger	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0009803	HP:0009803	Short phalanx of finger	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0009803	HP:0009803	Short phalanx of finger	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects		2
HP:0009803	HP:0009803	Short phalanx of finger	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0009803	HP:0009803	Short phalanx of finger	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0009803	HP:0009803	Short phalanx of finger	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0009803	HP:0009803	Short phalanx of finger	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0009803	HP:0009803	Short phalanx of finger	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0009803	HP:0009803	Short phalanx of finger	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009803	HP:0009803	Short phalanx of finger	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0009803	HP:0009803	Short phalanx of finger	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0009803	HP:0009803	Short phalanx of finger	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0009803	HP:0009803	Short phalanx of finger	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0009803	HP:0009803	Short phalanx of finger	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0009803	HP:0009803	Short phalanx of finger	0	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2		13
HP:0009803	HP:0009803	Short phalanx of finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009803	HP:0009803	Short phalanx of finger	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1		90
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2		90
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0009803	Short phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009803	HP:0009803	Short phalanx of finger	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009803	HP:0009803	Short phalanx of finger	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0009803	HP:0009803	Short phalanx of finger	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0009803	HP:0009803	Short phalanx of finger	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0009803	HP:0009803	Short phalanx of finger	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0009803	HP:0009803	Short phalanx of finger	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0009803	HP:0009803	Short phalanx of finger	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009803	HP:0009803	Short phalanx of finger	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0009803	HP:0009803	Short phalanx of finger	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0009803	HP:0009803	Short phalanx of finger	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0009803	HP:0009803	Short phalanx of finger	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0009803	HP:0009803	Short phalanx of finger	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0009803	HP:0009803	Short phalanx of finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009803	HP:0009803	Short phalanx of finger	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0009803	HP:0009803	Short phalanx of finger	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009803	HP:0009803	Short phalanx of finger	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0009803	HP:0009803	Short phalanx of finger	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0009803	HP:0009803	Short phalanx of finger	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009803	HP:0009803	Short phalanx of finger	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0009803	HP:0009803	Short phalanx of finger	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0009803	HP:0009803	Short phalanx of finger	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0009803	HP:0009803	Short phalanx of finger	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0009803	HP:0009803	Short phalanx of finger	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0009803	HP:0009803	Short phalanx of finger	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0009803	HP:0009803	Short phalanx of finger	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0009803	HP:0009803	Short phalanx of finger	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0009803	HP:0009803	Short phalanx of finger	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0009803	HP:0009803	Short phalanx of finger	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0009803	HP:0009803	Short phalanx of finger	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0009803	HP:0009803	Short phalanx of finger	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0009803	HP:0009803	Short phalanx of finger	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0009803	HP:0009803	Short phalanx of finger	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0009803	HP:0009803	Short phalanx of finger	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0009803	HP:0009803	Short phalanx of finger	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0009803	HP:0009803	Short phalanx of finger	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0009803	HP:0009803	Short phalanx of finger	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0009803	HP:0009803	Short phalanx of finger	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0009803	HP:0009803	Short phalanx of finger	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0009803	HP:0009803	Short phalanx of finger	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0009803	HP:0009803	Short phalanx of finger	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0009803	HP:0009803	Short phalanx of finger	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0009803	HP:0009803	Short phalanx of finger	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009803	HP:0009803	Short phalanx of finger	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009803	HP:0009803	Short phalanx of finger	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0009803	HP:0009803	Short phalanx of finger	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0009803	HP:0009803	Short phalanx of finger	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0009803	HP:0009803	Short phalanx of finger	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0009803	HP:0009803	Short phalanx of finger	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0009803	HP:0009803	Short phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0009803	HP:0009803	Short phalanx of finger	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0009803	HP:0009803	Short phalanx of finger	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0009803	HP:0009803	Short phalanx of finger	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009803	HP:0009803	Short phalanx of finger	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009803	HP:0009803	Short phalanx of finger	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0009803	HP:0009803	Short phalanx of finger	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0009803	HP:0009803	Short phalanx of finger	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009803	HP:0009803	Short phalanx of finger	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009803	HP:0009803	Short phalanx of finger	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009803	HP:0009803	Short phalanx of finger	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009803	HP:0009803	Short phalanx of finger	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0009803	HP:0009803	Short phalanx of finger	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0009803	HP:0009803	Short phalanx of finger	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0009803	HP:0009803	Short phalanx of finger	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	OMIM:610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD		25
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0009803	HP:0009803	Short phalanx of finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0009803	HP:0009803	Short phalanx of finger	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0009803	HP:0009803	Short phalanx of finger	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0009803	HP:0009803	Short phalanx of finger	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009803	HP:0009803	Short phalanx of finger	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009803	HP:0009803	Short phalanx of finger	0	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1		44
HP:0009803	HP:0009803	Short phalanx of finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009803	HP:0009803	Short phalanx of finger	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0009803	HP:0009803	Short phalanx of finger	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0009803	HP:0009803	Short phalanx of finger	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009803	HP:0009803	Short phalanx of finger	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0009803	HP:0009803	Short phalanx of finger	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0009803	HP:0009803	Short phalanx of finger	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009803	HP:0009803	Short phalanx of finger	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0009803	HP:0009803	Short phalanx of finger	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0009803	HP:0009803	Short phalanx of finger	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0009803	HP:0009803	Short phalanx of finger	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0009803	HP:0009803	Short phalanx of finger	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009803	HP:0009803	Short phalanx of finger	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0009803	HP:0009803	Short phalanx of finger	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0009803	HP:0009803	Short phalanx of finger	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009803	HP:0009803	Short phalanx of finger	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0009803	HP:0009803	Short phalanx of finger	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0009803	HP:0009803	Short phalanx of finger	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0009803	HP:0009803	Short phalanx of finger	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009803	HP:0009803	Short phalanx of finger	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0009803	HP:0009803	Short phalanx of finger	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0009803	HP:0009803	Short phalanx of finger	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0009803	HP:0009803	Short phalanx of finger	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0009803	HP:0009803	Short phalanx of finger	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009803	HP:0009803	Short phalanx of finger	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2		1
HP:0009803	HP:0009803	Short phalanx of finger	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0009803	HP:0009803	Short phalanx of finger	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0009803	HP:0009803	Short phalanx of finger	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0009803	HP:0009803	Short phalanx of finger	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0009803	HP:0009803	Short phalanx of finger	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009803	HP:0009803	Short phalanx of finger	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0009803	HP:0009803	Short phalanx of finger	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0009803	HP:0009803	Short phalanx of finger	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0009803	HP:0009803	Short phalanx of finger	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0009803	HP:0009803	Short phalanx of finger	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009803	HP:0009803	Short phalanx of finger	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009803	HP:0009803	Short phalanx of finger	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009803	HP:0009803	Short phalanx of finger	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0009803	HP:0009803	Short phalanx of finger	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0009803	HP:0009803	Short phalanx of finger	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0009803	HP:0009803	Short phalanx of finger	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009803	HP:0009803	Short phalanx of finger	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0009803	HP:0009803	Short phalanx of finger	0	PDE3A CL E G H	5139	8778	ORPHA:1276	Brachydactyly-arterial hypertension syndrome	HP:0040281 - Very frequent	9
HP:0009803	HP:0009803	Short phalanx of finger	0	PDE3A CL E G H	5139	8778	OMIM:112410	Hypertension and brachydactyly syndrome	.	9
HP:0009803	HP:0009803	Short phalanx of finger	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0009803	HP:0009803	Short phalanx of finger	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0009803	HP:0009803	Short phalanx of finger	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0009803	HP:0009803	Short phalanx of finger	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0009803	HP:0009803	Short phalanx of finger	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0009803	HP:0009803	Short phalanx of finger	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0009803	HP:0009803	Short phalanx of finger	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009803	HP:0009803	Short phalanx of finger	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009803	HP:0009803	Short phalanx of finger	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009803	HP:0009803	Short phalanx of finger	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0009803	HP:0009803	Short phalanx of finger	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0009803	HP:0009803	Short phalanx of finger	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009803	HP:0009803	Short phalanx of finger	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0009803	HP:0009803	Short phalanx of finger	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0009803	HP:0009803	Short phalanx of finger	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0009803	HP:0009803	Short phalanx of finger	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009803	HP:0009803	Short phalanx of finger	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009803	HP:0009803	Short phalanx of finger	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0009803	HP:0009803	Short phalanx of finger	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0009803	HP:0009803	Short phalanx of finger	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0009803	HP:0009803	Short phalanx of finger	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0009803	HP:0009803	Short phalanx of finger	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0009803	HP:0009803	Short phalanx of finger	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0009803	HP:0009803	Short phalanx of finger	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0009803	HP:0009803	Short phalanx of finger	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009803	HP:0009803	Short phalanx of finger	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0009803	HP:0009803	Short phalanx of finger	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0009803	HP:0009803	Short phalanx of finger	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0009803	HP:0009803	Short phalanx of finger	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0009803	HP:0009803	Short phalanx of finger	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0009803	HP:0009803	Short phalanx of finger	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0009803	HP:0009803	Short phalanx of finger	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009803	HP:0009803	Short phalanx of finger	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0009803	HP:0009803	Short phalanx of finger	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009803	HP:0009803	Short phalanx of finger	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0009803	HP:0009803	Short phalanx of finger	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009803	HP:0009803	Short phalanx of finger	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009803	HP:0009803	Short phalanx of finger	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009803	HP:0009803	Short phalanx of finger	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0009803	HP:0009803	Short phalanx of finger	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0009803	HP:0009803	Short phalanx of finger	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009803	HP:0009803	Short phalanx of finger	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0009803	HP:0009803	Short phalanx of finger	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0009803	HP:0009803	Short phalanx of finger	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009803	HP:0009803	Short phalanx of finger	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0009803	HP:0009803	Short phalanx of finger	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0009803	HP:0009803	Short phalanx of finger	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009803	HP:0009803	Short phalanx of finger	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0009803	HP:0009803	Short phalanx of finger	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009803	HP:0009803	Short phalanx of finger	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0009803	HP:0009803	Short phalanx of finger	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009803	HP:0009803	Short phalanx of finger	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0009803	HP:0009803	Short phalanx of finger	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0009803	HP:0009803	Short phalanx of finger	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0009803	HP:0009803	Short phalanx of finger	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0009803	HP:0009803	Short phalanx of finger	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0009803	HP:0009803	Short phalanx of finger	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0009803	HP:0009803	Short phalanx of finger	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0009803	HP:0009803	Short phalanx of finger	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009803	HP:0009803	Short phalanx of finger	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009803	HP:0009803	Short phalanx of finger	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009803	HP:0009803	Short phalanx of finger	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0009803	HP:0009803	Short phalanx of finger	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0009803	HP:0009803	Short phalanx of finger	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0009803	HP:0009803	Short phalanx of finger	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0009803	HP:0009803	Short phalanx of finger	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0009803	HP:0009803	Short phalanx of finger	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.	14
HP:0009803	HP:0009803	Short phalanx of finger	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0009803	HP:0009803	Short phalanx of finger	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0009803	HP:0009803	Short phalanx of finger	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0009803	HP:0006045	Short pointed phalanges	1	CL E G H
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040281 - Very frequent
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0009803	HP:0009882	Short distal phalanx of finger	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMPR1B CL E G H	658	1077	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	90
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0009882	Short distal phalanx of finger	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0005819	Short middle phalanx of finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009803	HP:0009882	Short distal phalanx of finger	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0009803	HP:0011910	Shortening of all phalanges of fingers	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	.	1
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0009803	HP:0005819	Short middle phalanx of finger	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0005819	Short middle phalanx of finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009803	HP:0009882	Short distal phalanx of finger	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0009803	HP:0009882	Short distal phalanx of finger	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009803	HP:0009882	Short distal phalanx of finger	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0009803	HP:0009882	Short distal phalanx of finger	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0009803	HP:0005819	Short middle phalanx of finger	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0009803	HP:0009882	Short distal phalanx of finger	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0009803	HP:0009882	Short distal phalanx of finger	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	7
HP:0009803	HP:0009882	Short distal phalanx of finger	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	115
HP:0009803	HP:0009882	Short distal phalanx of finger	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	11
HP:0009803	HP:0005819	Short middle phalanx of finger	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0009803	HP:0009882	Short distal phalanx of finger	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0009803	HP:0009882	Short distal phalanx of finger	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	209
HP:0009803	HP:0009882	Short distal phalanx of finger	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	137
HP:0009803	HP:0005819	Short middle phalanx of finger	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0009803	HP:0005819	Short middle phalanx of finger	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0009803	HP:0005819	Short middle phalanx of finger	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0009803	HP:0005819	Short middle phalanx of finger	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009803	HP:0005819	Short middle phalanx of finger	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent	493
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0009803	HP:0009882	Short distal phalanx of finger	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040281 - Very frequent	52
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	1
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009803	HP:0005819	Short middle phalanx of finger	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0009803	HP:0009882	Short distal phalanx of finger	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009803	HP:0005819	Short middle phalanx of finger	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009803	HP:0009882	Short distal phalanx of finger	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009803	HP:0009882	Short distal phalanx of finger	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009803	HP:0005819	Short middle phalanx of finger	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009803	HP:0009882	Short distal phalanx of finger	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009803	HP:0005819	Short middle phalanx of finger	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0009803	HP:0009882	Short distal phalanx of finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	25
HP:0009803	HP:0005819	Short middle phalanx of finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0009803	HP:0009882	Short distal phalanx of finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040281 - Very frequent	25
HP:0009803	HP:0009882	Short distal phalanx of finger	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0009803	HP:0005819	Short middle phalanx of finger	1	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IHH CL E G H	3549	5956	ORPHA:93388	Brachydactyly type A1	HP:0040281 - Very frequent	44
HP:0009803	HP:0009882	Short distal phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009803	HP:0005819	Short middle phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009803	HP:0005819	Short middle phalanx of finger	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009803	HP:0009882	Short distal phalanx of finger	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0009803	HP:0005819	Short middle phalanx of finger	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0009803	HP:0005819	Short middle phalanx of finger	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0009803	HP:0005819	Short middle phalanx of finger	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0009803	HP:0009882	Short distal phalanx of finger	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009803	HP:0009882	Short distal phalanx of finger	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009803	HP:0009882	Short distal phalanx of finger	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0009803	HP:0005819	Short middle phalanx of finger	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0009803	HP:0005819	Short middle phalanx of finger	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040281 - Very frequent	33
HP:0009803	HP:0005819	Short middle phalanx of finger	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent	1
HP:0009803	HP:0010241	Short proximal phalanx of finger	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0009803	HP:0009882	Short distal phalanx of finger	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0009803	HP:0005819	Short middle phalanx of finger	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0009803	HP:0005819	Short middle phalanx of finger	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040281 - Very frequent	35
HP:0009803	HP:0005819	Short middle phalanx of finger	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0009803	HP:0005819	Short middle phalanx of finger	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent	22
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2	.	22
HP:0009803	HP:0005819	Short middle phalanx of finger	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0009803	HP:0009882	Short distal phalanx of finger	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0009803	HP:0005819	Short middle phalanx of finger	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0009803	HP:0005819	Short middle phalanx of finger	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0009803	HP:0005819	Short middle phalanx of finger	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009803	HP:0009882	Short distal phalanx of finger	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0009803	HP:0005819	Short middle phalanx of finger	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent	2
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009803	HP:0005819	Short middle phalanx of finger	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0009803	HP:0009882	Short distal phalanx of finger	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040282 - Frequent	6
HP:0009803	HP:0005819	Short middle phalanx of finger	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0009803	HP:0005819	Short middle phalanx of finger	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0009803	HP:0009882	Short distal phalanx of finger	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0009803	HP:0009882	Short distal phalanx of finger	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0009803	HP:0005819	Short middle phalanx of finger	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009803	HP:0005819	Short middle phalanx of finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009803	HP:0009882	Short distal phalanx of finger	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0009803	HP:0005819	Short middle phalanx of finger	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009803	HP:0005819	Short middle phalanx of finger	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0009803	HP:0005819	Short middle phalanx of finger	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0009803	HP:0011910	Shortening of all phalanges of fingers	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0009803	HP:0005819	Short middle phalanx of finger	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009803	HP:0009882	Short distal phalanx of finger	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0009803	HP:0009882	Short distal phalanx of finger	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0009803	HP:0005819	Short middle phalanx of finger	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0009803	HP:0011910	Shortening of all phalanges of fingers	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0009803	HP:0005819	Short middle phalanx of finger	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0009803	HP:0005819	Short middle phalanx of finger	1	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0009803	HP:0009882	Short distal phalanx of finger	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0009803	HP:0005819	Short middle phalanx of finger	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0009803	HP:0005819	Short middle phalanx of finger	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0009803	HP:0009882	Short distal phalanx of finger	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009803	HP:0009882	Short distal phalanx of finger	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0009803	HP:0009882	Short distal phalanx of finger	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0009803	HP:0009882	Short distal phalanx of finger	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0009803	HP:0009882	Short distal phalanx of finger	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0009803	HP:0005819	Short middle phalanx of finger	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0009803	HP:0009882	Short distal phalanx of finger	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0009803	HP:0009459	Short proximal phalanx of the 3rd finger	2	CL E G H
HP:0009803	HP:0009301	Short proximal phalanx of the 4th finger	2	CL E G H
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	BMP2 CL E G H	650	1069	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	13
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	BMPR1B CL E G H	658	1077	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	90
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0009566	Short distal phalanx of the 2nd finger	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0009638	Short proximal phalanx of thumb	2	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009803	HP:0006144	Shortening of all proximal phalanges of the fingers	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0004180	Short distal phalanx of the 3rd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0009290	Short distal phalanx of the 4th finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0009566	Short distal phalanx of the 2nd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0009803	HP:0006144	Shortening of all proximal phalanges of the fingers	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040281 - Very frequent	52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GDF5 CL E G H	8200	4220	ORPHA:93396	Brachydactyly type A2	HP:0040283 - Occasional	52
HP:0009803	HP:0009295	Short middle phalanx of the 4th finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0009803	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0009803	HP:0004180	Short distal phalanx of the 3rd finger	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0009803	HP:0009638	Short proximal phalanx of thumb	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009803	HP:0009638	Short proximal phalanx of thumb	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009803	HP:0009597	Short proximal phalanx of the 2nd finger	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0009803	HP:0009226	Short proximal phalanx of the 5th finger	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009803	HP:0009295	Short middle phalanx of the 4th finger	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0009803	HP:0009295	Short middle phalanx of the 4th finger	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	20
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0009803	HP:0006110	Shortening of all middle phalanges of the fingers	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	36
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	84
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	57
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	6
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0009803	HP:0004227	Short distal phalanx of the 5th finger	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009803	HP:0009577	Short middle phalanx of the 2nd finger	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009803	HP:0009650	Short distal phalanx of the thumb	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040282 - Frequent	104
HP:0009803	HP:0006118	Shortening of all distal phalanges of the fingers	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009803	HP:0004220	Short middle phalanx of the 5th finger	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98