Human Phenotype Ontology 
Grandparent Node:
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Abnormal palmar dermatoglyphics (HP:0001018)help
Parent Node:
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Abnormality of the palmar creases (HP:0010490)help
..Starting node
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Single transverse palmar crease (HP:0000954)help
Term ID: 954
Name: Single transverse palmar crease
Synonym: Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease
Definition: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Comments:
Reference: HP:0000954
Genes and Diseases:
 
       Child Nodes:
........expandBilateral single transverse palmar creases (HP:0007598) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the palmar creases (HP:0010488) help
..expandBridged palmar crease (HP:0011310) help
..expandDeep palmar crease (HP:0006191) help
..expandMultiple palmar creases (HP:0006114) help
..expandProminent palmar flexion creases (HP:0006157) help
..expandSydney crease (HP:0011311) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000954HP:0000954Single transverse palmar crease0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000954HP:0000954Single transverse palmar crease0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000954HP:0000954Single transverse palmar crease0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000954HP:0000954Single transverse palmar crease0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000954HP:0000954Single transverse palmar crease0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0000954HP:0000954Single transverse palmar crease0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000954HP:0000954Single transverse palmar crease0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000954HP:0000954Single transverse palmar crease0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000954HP:0000954Single transverse palmar crease0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000954HP:0000954Single transverse palmar crease0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000954HP:0000954Single transverse palmar crease0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0000954HP:0000954Single transverse palmar crease0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0000954HP:0000954Single transverse palmar crease0BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndrome90
HP:0000954HP:0000954Single transverse palmar crease0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000954HP:0000954Single transverse palmar crease0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000954HP:0000954Single transverse palmar crease0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000954HP:0000954Single transverse palmar crease0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000954HP:0000954Single transverse palmar crease0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000954HP:0000954Single transverse palmar crease0CDC42BPB CL E G H95781738OMIM:619841
HP:0000954HP:0000954Single transverse palmar crease0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000954HP:0000954Single transverse palmar crease0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000954HP:0000954Single transverse palmar crease0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000954HP:0000954Single transverse palmar crease0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0000954HP:0000954Single transverse palmar crease0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000954HP:0000954Single transverse palmar crease0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000954HP:0000954Single transverse palmar crease0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0000954HP:0000954Single transverse palmar crease0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0000954HP:0000954Single transverse palmar crease0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0000954HP:0000954Single transverse palmar crease0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000954HP:0000954Single transverse palmar crease0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000954HP:0000954Single transverse palmar crease0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000954HP:0000954Single transverse palmar crease0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000954HP:0000954Single transverse palmar crease0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000954HP:0000954Single transverse palmar crease0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000954HP:0000954Single transverse palmar crease0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000954HP:0000954Single transverse palmar crease0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000954HP:0000954Single transverse palmar crease0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0000954HP:0000954Single transverse palmar crease0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000954HP:0000954Single transverse palmar crease0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000954HP:0000954Single transverse palmar crease0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000954HP:0000954Single transverse palmar crease0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000954HP:0000954Single transverse palmar crease0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0000954HP:0000954Single transverse palmar crease0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0000954HP:0000954Single transverse palmar crease0DPH2 CL E G H18023004OMIM:620062
HP:0000954HP:0000954Single transverse palmar crease0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0000954HP:0000954Single transverse palmar crease0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000954HP:0000954Single transverse palmar crease0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000954HP:0000954Single transverse palmar crease0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0000954HP:0000954Single transverse palmar crease0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0000954HP:0000954Single transverse palmar crease0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000954HP:0000954Single transverse palmar crease0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000954HP:0000954Single transverse palmar crease0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000954HP:0000954Single transverse palmar crease0FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndrome75
HP:0000954HP:0000954Single transverse palmar crease0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0000954HP:0000954Single transverse palmar crease0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0000954HP:0000954Single transverse palmar crease0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000954HP:0000954Single transverse palmar crease0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000954HP:0000954Single transverse palmar crease0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000954HP:0000954Single transverse palmar crease0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000954HP:0000954Single transverse palmar crease0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000954HP:0000954Single transverse palmar crease0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000954HP:0000954Single transverse palmar crease0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0000954HP:0000954Single transverse palmar crease0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0000954HP:0000954Single transverse palmar crease0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson type52
HP:0000954HP:0000954Single transverse palmar crease0GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndrome52
HP:0000954HP:0000954Single transverse palmar crease0GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndrome52
HP:0000954HP:0000954Single transverse palmar crease0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000954HP:0000954Single transverse palmar crease0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000954HP:0000954Single transverse palmar crease0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000954HP:0000954Single transverse palmar crease0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0000954HP:0000954Single transverse palmar crease0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000954HP:0000954Single transverse palmar crease0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0000954HP:0000954Single transverse palmar crease0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000954HP:0000954Single transverse palmar crease0H4C9 CL E G H82944793OMIM:619951
HP:0000954HP:0000954Single transverse palmar crease0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000954HP:0000954Single transverse palmar crease0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000954HP:0000954Single transverse palmar crease0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000954HP:0000954Single transverse palmar crease0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000954HP:0000954Single transverse palmar crease0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000954HP:0000954Single transverse palmar crease0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000954HP:0000954Single transverse palmar crease0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000954HP:0000954Single transverse palmar crease0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000954HP:0000954Single transverse palmar crease0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0000954HP:0000954Single transverse palmar crease0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000954HP:0000954Single transverse palmar crease0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000954HP:0000954Single transverse palmar crease0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000954HP:0000954Single transverse palmar crease0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000954HP:0000954Single transverse palmar crease0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000954HP:0000954Single transverse palmar crease0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0000954HP:0000954Single transverse palmar crease0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0000954HP:0000954Single transverse palmar crease0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000954HP:0000954Single transverse palmar crease0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000954HP:0000954Single transverse palmar crease0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040283 - Occasional3
HP:0000954HP:0000954Single transverse palmar crease0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0000954HP:0000954Single transverse palmar crease0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000954HP:0000954Single transverse palmar crease0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000954HP:0000954Single transverse palmar crease0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0000954HP:0000954Single transverse palmar crease0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000954HP:0000954Single transverse palmar crease0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000954HP:0000954Single transverse palmar crease0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000954HP:0000954Single transverse palmar crease0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000954HP:0000954Single transverse palmar crease0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0000954HP:0000954Single transverse palmar crease0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000954HP:0000954Single transverse palmar crease0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0000954HP:0000954Single transverse palmar crease0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomalyHP:0040283 - Occasional25
HP:0000954HP:0000954Single transverse palmar crease0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000954HP:0000954Single transverse palmar crease0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000954HP:0000954Single transverse palmar crease0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000954HP:0000954Single transverse palmar crease0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000954HP:0000954Single transverse palmar crease0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000954HP:0000954Single transverse palmar crease0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000954HP:0000954Single transverse palmar crease0NOG CL E G H92417866ORPHA:3237Multiple synostoses syndrome22
HP:0000954HP:0000954Single transverse palmar crease0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000954HP:0000954Single transverse palmar crease0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000954HP:0000954Single transverse palmar crease0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000954HP:0000954Single transverse palmar crease0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000954HP:0000954Single transverse palmar crease0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000954HP:0000954Single transverse palmar crease0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000954HP:0000954Single transverse palmar crease0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000954HP:0000954Single transverse palmar crease0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000954HP:0000954Single transverse palmar crease0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0000954HP:0000954Single transverse palmar crease0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0000954HP:0000954Single transverse palmar crease0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophy169
HP:0000954HP:0000954Single transverse palmar crease0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000954HP:0000954Single transverse palmar crease0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophy75
HP:0000954HP:0000954Single transverse palmar crease0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophy4
HP:0000954HP:0000954Single transverse palmar crease0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophy65
HP:0000954HP:0000954Single transverse palmar crease0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0000954HP:0000954Single transverse palmar crease0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophy66
HP:0000954HP:0000954Single transverse palmar crease0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophy46
HP:0000954HP:0000954Single transverse palmar crease0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophy59
HP:0000954HP:0000954Single transverse palmar crease0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophy62
HP:0000954HP:0000954Single transverse palmar crease0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophy82
HP:0000954HP:0000954Single transverse palmar crease0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000954HP:0000954Single transverse palmar crease0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophy106
HP:0000954HP:0000954Single transverse palmar crease0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophy47
HP:0000954HP:0000954Single transverse palmar crease0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophy99
HP:0000954HP:0000954Single transverse palmar crease0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000954HP:0000954Single transverse palmar crease0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophy98
HP:0000954HP:0000954Single transverse palmar crease0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000954HP:0000954Single transverse palmar crease0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000954HP:0000954Single transverse palmar crease0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000954HP:0000954Single transverse palmar crease0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000954HP:0000954Single transverse palmar crease0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0000954HP:0000954Single transverse palmar crease0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000954HP:0000954Single transverse palmar crease0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0000954HP:0000954Single transverse palmar crease0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000954HP:0000954Single transverse palmar crease0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000954HP:0000954Single transverse palmar crease0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000954HP:0000954Single transverse palmar crease0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0000954HP:0000954Single transverse palmar crease0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0000954HP:0000954Single transverse palmar crease0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000954HP:0000954Single transverse palmar crease0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000954HP:0000954Single transverse palmar crease0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000954HP:0000954Single transverse palmar crease0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000954HP:0000954Single transverse palmar crease0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0000954HP:0000954Single transverse palmar crease0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0000954HP:0000954Single transverse palmar crease0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000954HP:0000954Single transverse palmar crease0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0000954HP:0000954Single transverse palmar crease0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000954HP:0000954Single transverse palmar crease0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0000954HP:0000954Single transverse palmar crease0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000954HP:0000954Single transverse palmar crease0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000954HP:0000954Single transverse palmar crease0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000954HP:0000954Single transverse palmar crease0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000954HP:0000954Single transverse palmar crease0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000954HP:0000954Single transverse palmar crease0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000954HP:0000954Single transverse palmar crease0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000954HP:0000954Single transverse palmar crease0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000954HP:0000954Single transverse palmar crease0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000954HP:0000954Single transverse palmar crease0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0000954HP:0000954Single transverse palmar crease0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000954HP:0000954Single transverse palmar crease0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000954HP:0000954Single transverse palmar crease0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000954HP:0000954Single transverse palmar crease0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000954HP:0000954Single transverse palmar crease0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000954HP:0000954Single transverse palmar crease0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000954HP:0000954Single transverse palmar crease0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000954HP:0000954Single transverse palmar crease0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000954HP:0000954Single transverse palmar crease0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000954HP:0000954Single transverse palmar crease0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000954HP:0000954Single transverse palmar crease0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0000954HP:0000954Single transverse palmar crease0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000954HP:0000954Single transverse palmar crease0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000954HP:0000954Single transverse palmar crease0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000954HP:0000954Single transverse palmar crease0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0000954HP:0000954Single transverse palmar crease0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0000954HP:0000954Single transverse palmar crease0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome5
HP:0000954HP:0000954Single transverse palmar crease0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000954HP:0000954Single transverse palmar crease0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0000954HP:0000954Single transverse palmar crease0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3HP:0040283 - Occasional28
HP:0000954HP:0000954Single transverse palmar crease0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000954HP:0000954Single transverse palmar crease0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000954HP:0000954Single transverse palmar crease0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000954HP:0000954Single transverse palmar crease0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000954HP:0000954Single transverse palmar crease0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000954HP:0000954Single transverse palmar crease0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000954HP:0000954Single transverse palmar crease0TMEM147 CL E G H1043030414OMIM:620075
HP:0000954HP:0000954Single transverse palmar crease0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0000954HP:0000954Single transverse palmar crease0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0000954HP:0000954Single transverse palmar crease0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000954HP:0000954Single transverse palmar crease0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0000954HP:0000954Single transverse palmar crease0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0000954HP:0000954Single transverse palmar crease0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000954HP:0000954Single transverse palmar crease0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000954HP:0000954Single transverse palmar crease0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000954HP:0000954Single transverse palmar crease0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0000954HP:0000954Single transverse palmar crease0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0000954HP:0000954Single transverse palmar crease0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0000954HP:0000954Single transverse palmar crease0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0000954HP:0000954Single transverse palmar crease0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0000954HP:0000954Single transverse palmar crease0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0000954HP:0000954Single transverse palmar crease0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0000954HP:0000954Single transverse palmar crease0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000954HP:0000954Single transverse palmar crease0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000954HP:0000954Single transverse palmar crease0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000954HP:0000954Single transverse palmar crease0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000954HP:0000954Single transverse palmar crease0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000954HP:0000954Single transverse palmar crease0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000954HP:0000954Single transverse palmar crease0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000954HP:0000954Single transverse palmar crease0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000954HP:0000954Single transverse palmar crease0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000954HP:0000954Single transverse palmar crease0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000954HP:0000954Single transverse palmar crease0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0000954HP:0007598Bilateral single transverse palmar creases1BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent90
HP:0000954HP:0007598Bilateral single transverse palmar creases1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000954HP:0007598Bilateral single transverse palmar creases1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000954HP:0007598Bilateral single transverse palmar creases1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000954HP:0007598Bilateral single transverse palmar creases1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000954HP:0007598Bilateral single transverse palmar creases1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0000954HP:0007598Bilateral single transverse palmar creases1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0000954HP:0007598Bilateral single transverse palmar creases1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0000954HP:0007598Bilateral single transverse palmar creases1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000954HP:0007598Bilateral single transverse palmar creases1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0000954HP:0007598Bilateral single transverse palmar creases1FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent75
HP:0000954HP:0007598Bilateral single transverse palmar creases1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000954HP:0007598Bilateral single transverse palmar creases1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000954HP:0007598Bilateral single transverse palmar creases1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000954HP:0007598Bilateral single transverse palmar creases1GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040281 - Very frequent52
HP:0000954HP:0007598Bilateral single transverse palmar creases1GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent52
HP:0000954HP:0007598Bilateral single transverse palmar creases1GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent52
HP:0000954HP:0007598Bilateral single transverse palmar creases1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0000954HP:0007598Bilateral single transverse palmar creases1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000954HP:0007598Bilateral single transverse palmar creases1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0000954HP:0007598Bilateral single transverse palmar creases1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent166
HP:0000954HP:0007598Bilateral single transverse palmar creases1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent48
HP:0000954HP:0007598Bilateral single transverse palmar creases1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000954HP:0007598Bilateral single transverse palmar creases1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000954HP:0007598Bilateral single transverse palmar creases1NOG CL E G H92417866ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent22
HP:0000954HP:0007598Bilateral single transverse palmar creases1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0000954HP:0007598Bilateral single transverse palmar creases1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent169
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent75
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent4
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent65
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent66
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent46
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent59
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent62
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent82
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent106
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent47
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent99
HP:0000954HP:0007598Bilateral single transverse palmar creases1PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent98
HP:0000954HP:0007598Bilateral single transverse palmar creases1PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0000954HP:0007598Bilateral single transverse palmar creases1PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0000954HP:0007598Bilateral single transverse palmar creases1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000954HP:0007598Bilateral single transverse palmar creases1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0000954HP:0007598Bilateral single transverse palmar creases1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000954HP:0007598Bilateral single transverse palmar creases1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000954HP:0007598Bilateral single transverse palmar creases1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0000954HP:0007598Bilateral single transverse palmar creases1SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000954HP:0007598Bilateral single transverse palmar creases1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000954HP:0007598Bilateral single transverse palmar creases1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000954HP:0007598Bilateral single transverse palmar creases1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0000954HP:0007598Bilateral single transverse palmar creases1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000954HP:0007598Bilateral single transverse palmar creases1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000954HP:0007598Bilateral single transverse palmar creases1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent37
HP:0000954HP:0007598Bilateral single transverse palmar creases1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent43
HP:0000954HP:0007598Bilateral single transverse palmar creases1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent54
HP:0000954HP:0007598Bilateral single transverse palmar creases1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional171
HP:0000954HP:0007598Bilateral single transverse palmar creases1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0000954HP:0007598Bilateral single transverse palmar creases1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0000954HP:0007598Bilateral single transverse palmar creases1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0000954HP:0007598Bilateral single transverse palmar creases1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0000954HP:0007598Bilateral single transverse palmar creases1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18


Genes (191) :ADNP AFF3 ANKRD11 APC ARID1B ARL3 ATR B3GLCT B4GALT7 BHLHA9 BMP4 BMPR1B BRD4 BRF1 CCBE1 CD96 CDC42BPB CDK19 CEP55 CEP57 CHST3 CILK1 CKAP2L CLCN7 COX14 COX7B CPLX1 CREBBP CSGALNACT1 CTBP1 CTCF DDX11 DIS3L2 DLK1 DLX4 DOCK6 DPAGT1 DPH1 DPH2 EHMT1 EP300 ESCO2 EXT1 EXTL3 FBXO28 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FOXP1 G6PC3 GATA1 GDF5 GJA5 GJA8 GLE1 GLYCTK GNB2 GRIN1 H3-3A H4C9 HCCS HDAC4 HDAC8 IFT122 IFT43 IFT57 IGF1 ITCH KAT6B KATNB1 KCNK9 KDM4B LETM1 LIFR LMX1B LONP1 MAP1B MAP3K7 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 MSL3 MYH3 NAA20 NALCN NBAS NDUFB11 NECTIN1 NEXMIF NGLY1 NIPBL NOG NSD2 NSDHL NUP107 NUP188 NXN OFD1 PACS1 PDHA1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGS PKDCC PLAA PNPLA6 POLRMT PPP2CA PPP2R3C PPP3CA PTPRF PUF60 RAB11B RAD21 RBM10 RIN2 RNU4ATAC ROR2 RPL10 RPS23 RPS6KA3 RTL1 SEPSECS SET SETBP1 SLC25A12 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMOC1 SMPD4 SMS SPTBN1 STAG1 STXBP1 TAF6 TASP1 TBX4 TCF12 TCF4 TELO2 TFAP2A TGDS THOC2 TMEM147 TNNI2 TNNT3 TOE1 TPM2 TRIM37 TRIM8 TRIO TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TWIST1 UBE3B UBR1 UBR7 VAC14 VPS13B VPS51 WAC XYLT1 ZMYM2 ZNF292 ZNF462

Diseases (176) :ORPHA:404448 OMIM:619297 OMIM:148050 ORPHA:2332 ORPHA:261584 OMIM:135900 OMIM:618161 OMIM:210600 OMIM:261540 OMIM:130070 OMIM:609432 OMIM:607932 ORPHA:2639 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:235510 ORPHA:1308 OMIM:619841 OMIM:618916 OMIM:236500 OMIM:614114 OMIM:143095 OMIM:612651 OMIM:272440 ORPHA:3255 OMIM:618541 OMIM:619053 OMIM:309801 OMIM:194190 OMIM:180849 OMIM:618870 ORPHA:363611 OMIM:615502 OMIM:613398 ORPHA:2849 ORPHA:254528 ORPHA:96334 OMIM:616788 OMIM:614219 OMIM:608093 ORPHA:459061 OMIM:620062 OMIM:610253 ORPHA:3103 ORPHA:502 OMIM:617425 OMIM:619777 ORPHA:915 OMIM:305400 ORPHA:3237 ORPHA:794 ORPHA:3472 OMIM:216340 ORPHA:1826 ORPHA:391372 OMIM:612541 OMIM:190685 OMIM:201250 ORPHA:968 OMIM:612474 OMIM:611890 OMIM:220120 OMIM:619503 OMIM:617820 OMIM:619720 OMIM:619951 ORPHA:1001 OMIM:218330 OMIM:617866 OMIM:617927 ORPHA:73272 OMIM:613385 ORPHA:3047 OMIM:616212 OMIM:612292 OMIM:619320 OMIM:601559 ORPHA:495818 ORPHA:79243 OMIM:618918 ORPHA:1596 ORPHA:93932 OMIM:305450 ORPHA:464738 OMIM:613443 OMIM:614976 OMIM:301032 ORPHA:1147 OMIM:619717 OMIM:614800 ORPHA:3253 OMIM:300912 OMIM:615273 OMIM:122470 OMIM:186500 OMIM:308050 OMIM:618348 OMIM:618804 ORPHA:1507 OMIM:300209 ORPHA:329224 ORPHA:742 ORPHA:44 OMIM:214100 OMIM:266510 OMIM:614866 OMIM:214110 OMIM:614863 OMIM:114300 OMIM:618143 OMIM:618821 OMIM:617527 ORPHA:521426 ORPHA:2377 OMIM:619743 OMIM:618354 OMIM:618419 OMIM:617711 OMIM:616001 ORPHA:508488 OMIM:617807 OMIM:614701 ORPHA:2886 OMIM:311900 OMIM:613075 ORPHA:2636 OMIM:210710 ORPHA:353298 OMIM:616651 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:617412 OMIM:303600 ORPHA:2524 OMIM:618106 OMIM:269150 OMIM:612949 OMIM:619657 OMIM:601358 OMIM:129200 OMIM:610759 OMIM:206920 ORPHA:1106 OMIM:618622 OMIM:309583 OMIM:619475 ORPHA:502434 OMIM:617126 OMIM:618950 ORPHA:261279 OMIM:615314 ORPHA:2896 OMIM:610954 ORPHA:488642 OMIM:113620 OMIM:616145 ORPHA:457240 OMIM:620075 OMIM:614969 OMIM:108120 OMIM:253250 OMIM:619428 OMIM:617061 OMIM:612389 OMIM:244450 OMIM:243800 OMIM:619189 OMIM:216550 OMIM:618606 ORPHA:466950 OMIM:615777 OMIM:619522 OMIM:619188 OMIM:618619
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.