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:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CHST11 CL E G H	50515	17422	OMIM:618167	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits		1
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2		22
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly		214
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0009835	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0009835	HP:0009882	Short distal phalanx of finger	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0009835	HP:0009882	Short distal phalanx of finger	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009835	HP:0009882	Short distal phalanx of finger	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009835	HP:0009882	Short distal phalanx of finger	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0009835	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:0009835	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:0009835	HP:0005807	Absent distal phalanges	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0009835	HP:0009882	Short distal phalanx of finger	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009835	HP:0009882	Short distal phalanx of finger	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0009881	Aplasia of the distal phalanges of the hand	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009835	HP:0009882	Short distal phalanx of finger	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009835	HP:0009881	Aplasia of the distal phalanges of the hand	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0009835	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009835	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0009835	HP:0009882	Short distal phalanx of finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040281 - Very frequent
HP:0009835	HP:0009882	Short distal phalanx of finger	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009835	HP:0009882	Short distal phalanx of finger	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009835	HP:0009882	Short distal phalanx of finger	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0009835	HP:0009882	Short distal phalanx of finger	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009835	HP:0009882	Short distal phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0009835	HP:0009882	Short distal phalanx of finger	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009835	HP:0009882	Short distal phalanx of finger	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0009835	HP:0009882	Short distal phalanx of finger	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0009835	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:0009835	HP:0005807	Absent distal phalanges	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009835	HP:0009882	Short distal phalanx of finger	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0009835	HP:0005807	Absent distal phalanges	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0009835	HP:0009882	Short distal phalanx of finger	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2	.	22
HP:0009835	HP:0005807	Absent distal phalanges	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009835	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:0009835	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:0009835	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:0009835	HP:0009881	Aplasia of the distal phalanges of the hand	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009835	HP:0009882	Short distal phalanx of finger	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0009835	HP:0009882	Short distal phalanx of finger	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009835	HP:0005807	Absent distal phalanges	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0009835	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:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0009835	HP:0009882	Short distal phalanx of finger	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009835	HP:0009882	Short distal phalanx of finger	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0009835	HP:0009882	Short distal phalanx of finger	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0009835	HP:0009882	Short distal phalanx of finger	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009835	HP:0009882	Short distal phalanx of finger	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0009835	HP:0009882	Short distal phalanx of finger	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0009835	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:0009835	HP:0005807	Absent distal phalanges	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional	253
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0009835	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:0009835	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:0009835	HP:0009881	Aplasia of the distal phalanges of the hand	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0009835	HP:0009882	Short distal phalanx of finger	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0009835	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:0009835	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:0009835	HP:0009882	Short distal phalanx of finger	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0009835	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:0009835	HP:0009291	Aplasia of the distal phalanx of the 4th finger	2	CL E G H
HP:0009835	HP:0009246	Aplasia of the distal phalanx of the 5th finger	2	CL E G H
HP:0009835	HP:0009649	Aplasia of the distal phalanx of the thumb	2	CL E G H
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0006118	Shortening of all distal phalanges of the fingers	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0009835	HP:0009290	Short distal phalanx of the 4th finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009835	HP:0004227	Short distal phalanx of the 5th finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009835	HP:0009566	Short distal phalanx of the 2nd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009835	HP:0004180	Short distal phalanx of the 3rd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009835	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009835	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:0009835	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:0009835	HP:0009650	Short distal phalanx of the thumb	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009835	HP:0004227	Short distal phalanx of the 5th finger	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0009835	HP:0004227	Short distal phalanx of the 5th finger	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009835	HP:0004227	Short distal phalanx of the 5th finger	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0009835	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:0009835	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:0009835	HP:0009565	Aplasia of the distal phalanx of the 2nd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009835	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	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:0009835	HP:0009650	Short distal phalanx of the thumb	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009835	HP:0009650	Short distal phalanx of the thumb	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009835	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:0009835	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:0009835	HP:0009650	Short distal phalanx of the thumb	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0009835	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