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