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:0010490	HP:0010490	Abnormality of the palmar creases	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome		75
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome		52
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome		22
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0010490	HP:0010490	Abnormality of the palmar creases	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0010490	HP:0011310	Bridged palmar crease	1	CL E G H
HP:0010490	HP:0006157	Prominent palmar flexion creases	1	CL E G H
HP:0010490	HP:0000954	Single transverse palmar crease	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0010490	HP:0000954	Single transverse palmar crease	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010490	HP:0006191	Deep palmar crease	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0010490	HP:0000954	Single transverse palmar crease	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0010490	HP:0000954	Single transverse palmar crease	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0010490	HP:0000954	Single transverse palmar crease	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0010490	HP:0000954	Single transverse palmar crease	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010490	HP:0000954	Single transverse palmar crease	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0010490	HP:0006191	Deep palmar crease	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0010490	HP:0006191	Deep palmar crease	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0010490	HP:0006191	Deep palmar crease	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0010490	HP:0006191	Deep palmar crease	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0010490	HP:0006114	Multiple palmar creases	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0010490	HP:0006191	Deep palmar crease	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0010490	HP:0006191	Deep palmar crease	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	5
HP:0010490	HP:0000954	Single transverse palmar crease	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0010490	HP:0000954	Single transverse palmar crease	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010490	HP:0000954	Single transverse palmar crease	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0010490	HP:0000954	Single transverse palmar crease	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0010490	HP:0000954	Single transverse palmar crease	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0010490	HP:0000954	Single transverse palmar crease	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0010490	HP:0006191	Deep palmar crease	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0010490	HP:0006191	Deep palmar crease	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010490	HP:0006191	Deep palmar crease	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0010490	HP:0000954	Single transverse palmar crease	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010490	HP:0000954	Single transverse palmar crease	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0010490	HP:0000954	Single transverse palmar crease	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0010490	HP:0000954	Single transverse palmar crease	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010490	HP:0000954	Single transverse palmar crease	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010490	HP:0000954	Single transverse palmar crease	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010490	HP:0006191	Deep palmar crease	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0010490	HP:0000954	Single transverse palmar crease	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0010490	HP:0000954	Single transverse palmar crease	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0010490	HP:0000954	Single transverse palmar crease	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010490	HP:0000954	Single transverse palmar crease	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0010490	HP:0000954	Single transverse palmar crease	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010490	HP:0000954	Single transverse palmar crease	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0010490	HP:0000954	Single transverse palmar crease	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0010490	HP:0000954	Single transverse palmar crease	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0010490	HP:0000954	Single transverse palmar crease	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0010490	HP:0000954	Single transverse palmar crease	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0010490	HP:0000954	Single transverse palmar crease	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010490	HP:0000954	Single transverse palmar crease	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0010490	HP:0000954	Single transverse palmar crease	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0010490	HP:0000954	Single transverse palmar crease	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0010490	HP:0000954	Single transverse palmar crease	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0010490	HP:0000954	Single transverse palmar crease	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0010490	HP:0000954	Single transverse palmar crease	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0010490	HP:0000954	Single transverse palmar crease	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0010490	HP:0000954	Single transverse palmar crease	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0010490	HP:0000954	Single transverse palmar crease	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010490	HP:0000954	Single transverse palmar crease	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0010490	HP:0006191	Deep palmar crease	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010490	HP:0000954	Single transverse palmar crease	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	.	223
HP:0010490	HP:0000954	Single transverse palmar crease	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010490	HP:0000954	Single transverse palmar crease	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0010490	HP:0000954	Single transverse palmar crease	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010490	HP:0000954	Single transverse palmar crease	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0010490	HP:0000954	Single transverse palmar crease	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional	62
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome		75
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0010490	HP:0000954	Single transverse palmar crease	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0010490	HP:0000954	Single transverse palmar crease	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0010490	HP:0000954	Single transverse palmar crease	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0010490	HP:0000954	Single transverse palmar crease	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0010490	HP:0000954	Single transverse palmar crease	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0010490	HP:0000954	Single transverse palmar crease	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0010490	HP:0000954	Single transverse palmar crease	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0010490	HP:0000954	Single transverse palmar crease	1	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0010490	HP:0000954	Single transverse palmar crease	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0010490	HP:0000954	Single transverse palmar crease	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0010490	HP:0000954	Single transverse palmar crease	1	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome		52
HP:0010490	HP:0000954	Single transverse palmar crease	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010490	HP:0000954	Single transverse palmar crease	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010490	HP:0000954	Single transverse palmar crease	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0010490	HP:0000954	Single transverse palmar crease	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0010490	HP:0000954	Single transverse palmar crease	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010490	HP:0006191	Deep palmar crease	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0010490	HP:0000954	Single transverse palmar crease	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0010490	HP:0000954	Single transverse palmar crease	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0010490	HP:0000954	Single transverse palmar crease	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010490	HP:0000954	Single transverse palmar crease	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0010490	HP:0000954	Single transverse palmar crease	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0010490	HP:0000954	Single transverse palmar crease	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010490	HP:0006191	Deep palmar crease	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0010490	HP:0006191	Deep palmar crease	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0010490	HP:0000954	Single transverse palmar crease	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0010490	HP:0000954	Single transverse palmar crease	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0010490	HP:0000954	Single transverse palmar crease	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0010490	HP:0000954	Single transverse palmar crease	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0010490	HP:0000954	Single transverse palmar crease	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0010490	HP:0000954	Single transverse palmar crease	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0010490	HP:0000954	Single transverse palmar crease	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0010490	HP:0006191	Deep palmar crease	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	13
HP:0010490	HP:0000954	Single transverse palmar crease	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0010490	HP:0006191	Deep palmar crease	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	7
HP:0010490	HP:0000954	Single transverse palmar crease	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0010490	HP:0006191	Deep palmar crease	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0010490	HP:0000954	Single transverse palmar crease	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0010490	HP:0000954	Single transverse palmar crease	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0010490	HP:0000954	Single transverse palmar crease	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0010490	HP:0000954	Single transverse palmar crease	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0010490	HP:0006191	Deep palmar crease	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010490	HP:0000954	Single transverse palmar crease	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0010490	HP:0006191	Deep palmar crease	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0010490	HP:0006191	Deep palmar crease	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0010490	HP:0000954	Single transverse palmar crease	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0010490	HP:0000954	Single transverse palmar crease	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0010490	HP:0000954	Single transverse palmar crease	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0010490	HP:0000954	Single transverse palmar crease	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0010490	HP:0000954	Single transverse palmar crease	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010490	HP:0000954	Single transverse palmar crease	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0010490	HP:0000954	Single transverse palmar crease	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010490	HP:0000954	Single transverse palmar crease	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0010490	HP:0006191	Deep palmar crease	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0010490	HP:0006191	Deep palmar crease	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0010490	HP:0000954	Single transverse palmar crease	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0010490	HP:0000954	Single transverse palmar crease	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0010490	HP:0000954	Single transverse palmar crease	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0010490	HP:0000954	Single transverse palmar crease	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional	25
HP:0010490	HP:0000954	Single transverse palmar crease	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0010490	HP:0000954	Single transverse palmar crease	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0010490	HP:0000954	Single transverse palmar crease	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010490	HP:0000954	Single transverse palmar crease	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010490	HP:0000954	Single transverse palmar crease	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010490	HP:0000954	Single transverse palmar crease	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0010490	HP:0000954	Single transverse palmar crease	1	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome		22
HP:0010490	HP:0000954	Single transverse palmar crease	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0010490	HP:0000954	Single transverse palmar crease	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0010490	HP:0000954	Single transverse palmar crease	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010490	HP:0000954	Single transverse palmar crease	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0010490	HP:0000954	Single transverse palmar crease	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0010490	HP:0000954	Single transverse palmar crease	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010490	HP:0000954	Single transverse palmar crease	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0010490	HP:0006191	Deep palmar crease	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010490	HP:0000954	Single transverse palmar crease	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0010490	HP:0000954	Single transverse palmar crease	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0010490	HP:0000954	Single transverse palmar crease	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0010490	HP:0000954	Single transverse palmar crease	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0010490	HP:0000954	Single transverse palmar crease	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010490	HP:0000954	Single transverse palmar crease	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0010490	HP:0000954	Single transverse palmar crease	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0010490	HP:0000954	Single transverse palmar crease	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010490	HP:0000954	Single transverse palmar crease	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0010490	HP:0000954	Single transverse palmar crease	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0010490	HP:0000954	Single transverse palmar crease	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010490	HP:0000954	Single transverse palmar crease	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0010490	HP:0006191	Deep palmar crease	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010490	HP:0000954	Single transverse palmar crease	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0010490	HP:0000954	Single transverse palmar crease	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010490	HP:0000954	Single transverse palmar crease	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0010490	HP:0000954	Single transverse palmar crease	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0010490	HP:0000954	Single transverse palmar crease	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0010490	HP:0006191	Deep palmar crease	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0010490	HP:0000954	Single transverse palmar crease	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010490	HP:0000954	Single transverse palmar crease	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0010490	HP:0000954	Single transverse palmar crease	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0010490	HP:0000954	Single transverse palmar crease	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0010490	HP:0000954	Single transverse palmar crease	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0010490	HP:0000954	Single transverse palmar crease	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010490	HP:0000954	Single transverse palmar crease	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010490	HP:0000954	Single transverse palmar crease	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0010490	HP:0000954	Single transverse palmar crease	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0010490	HP:0000954	Single transverse palmar crease	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0010490	HP:0000954	Single transverse palmar crease	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0010490	HP:0000954	Single transverse palmar crease	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0010490	HP:0000954	Single transverse palmar crease	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0010490	HP:0000954	Single transverse palmar crease	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0010490	HP:0000954	Single transverse palmar crease	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010490	HP:0006191	Deep palmar crease	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1	HP:0040283 - Occasional	74
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0010490	HP:0000954	Single transverse palmar crease	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0010490	HP:0006191	Deep palmar crease	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0010490	HP:0006191	Deep palmar crease	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0010490	HP:0006191	Deep palmar crease	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0010490	HP:0000954	Single transverse palmar crease	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010490	HP:0000954	Single transverse palmar crease	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0010490	HP:0000954	Single transverse palmar crease	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0010490	HP:0000954	Single transverse palmar crease	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0010490	HP:0000954	Single transverse palmar crease	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010490	HP:0006191	Deep palmar crease	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0010490	HP:0006191	Deep palmar crease	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0010490	HP:0000954	Single transverse palmar crease	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0010490	HP:0000954	Single transverse palmar crease	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional	28
HP:0010490	HP:0000954	Single transverse palmar crease	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0010490	HP:0000954	Single transverse palmar crease	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0010490	HP:0000954	Single transverse palmar crease	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0010490	HP:0000954	Single transverse palmar crease	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0010490	HP:0000954	Single transverse palmar crease	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0010490	HP:0000954	Single transverse palmar crease	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0010490	HP:0000954	Single transverse palmar crease	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0010490	HP:0000954	Single transverse palmar crease	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0010490	HP:0000954	Single transverse palmar crease	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0010490	HP:0000954	Single transverse palmar crease	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0010490	HP:0000954	Single transverse palmar crease	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0010490	HP:0000954	Single transverse palmar crease	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0010490	HP:0000954	Single transverse palmar crease	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0010490	HP:0000954	Single transverse palmar crease	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0010490	HP:0000954	Single transverse palmar crease	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010490	HP:0000954	Single transverse palmar crease	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0010490	HP:0000954	Single transverse palmar crease	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0010490	HP:0000954	Single transverse palmar crease	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0010490	HP:0000954	Single transverse palmar crease	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0010490	HP:0000954	Single transverse palmar crease	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0010490	HP:0010488	Aplasia/Hypoplasia of the palmar creases	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0010490	HP:0000954	Single transverse palmar crease	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0010490	HP:0000954	Single transverse palmar crease	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0010490	HP:0000954	Single transverse palmar crease	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0010490	HP:0000954	Single transverse palmar crease	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0010490	HP:0000954	Single transverse palmar crease	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0010490	HP:0000954	Single transverse palmar crease	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0010490	HP:0006191	Deep palmar crease	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0010490	HP:0000954	Single transverse palmar crease	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0010490	HP:0000954	Single transverse palmar crease	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0010490	HP:0000954	Single transverse palmar crease	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0010490	HP:0011311	Sydney crease	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0010490	HP:0000954	Single transverse palmar crease	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010490	HP:0000954	Single transverse palmar crease	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0010490	HP:0000954	Single transverse palmar crease	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0010490	HP:0006184	Decreased palmar creases	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0010490	HP:0006184	Decreased palmar creases	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0010490	HP:0006184	Decreased palmar creases	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0010490	HP:0010489	Absent palmar crease	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0010490	HP:0006184	Decreased palmar creases	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040282 - Frequent	75
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent	52
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040282 - Frequent	52
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0010490	HP:0010489	Absent palmar crease	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0010490	HP:0010489	Absent palmar crease	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	166
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	166
HP:0010490	HP:0010489	Absent palmar crease	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010490	HP:0010489	Absent palmar crease	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	48
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	48
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040282 - Frequent	22
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0010490	HP:0010489	Absent palmar crease	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	169
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	75
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	4
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	65
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	66
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	46
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	59
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	62
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	82
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	106
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	47
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	99
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent	98
HP:0010490	HP:0006184	Decreased palmar creases	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0010490	HP:0010489	Absent palmar crease	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0010490	HP:0006184	Decreased palmar creases	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0010490	HP:0010489	Absent palmar crease	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0010490	HP:0010489	Absent palmar crease	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0010490	HP:0010489	Absent palmar crease	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0010490	HP:0010489	Absent palmar crease	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	37
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	43
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040281 - Very frequent	54
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0010490	HP:0010489	Absent palmar crease	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0010490	HP:0007598	Bilateral single transverse palmar creases	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18