Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the palmar creases (HP:0010490)help
Parent Node:
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Single transverse palmar crease (HP:0000954)help
..Starting node
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Bilateral single transverse palmar creases (HP:0007598)help
Term ID: 7598
Name: Bilateral single transverse palmar creases
Synonym:
Definition: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
Comments:
Reference: HP:0007598
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007598HP:0007598Bilateral single transverse palmar creases0BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent90
HP:0007598HP:0007598Bilateral single transverse palmar creases0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0007598HP:0007598Bilateral single transverse palmar creases0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0007598HP:0007598Bilateral single transverse palmar creases0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0007598HP:0007598Bilateral single transverse palmar creases0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0007598HP:0007598Bilateral single transverse palmar creases0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0007598HP:0007598Bilateral single transverse palmar creases0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0007598HP:0007598Bilateral single transverse palmar creases0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0007598HP:0007598Bilateral single transverse palmar creases0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0007598HP:0007598Bilateral single transverse palmar creases0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0007598HP:0007598Bilateral single transverse palmar creases0FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent75
HP:0007598HP:0007598Bilateral single transverse palmar creases0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0007598HP:0007598Bilateral single transverse palmar creases0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0007598HP:0007598Bilateral single transverse palmar creases0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0007598HP:0007598Bilateral single transverse palmar creases0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040281 - Very frequent52
HP:0007598HP:0007598Bilateral single transverse palmar creases0GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent52
HP:0007598HP:0007598Bilateral single transverse palmar creases0GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent52
HP:0007598HP:0007598Bilateral single transverse palmar creases0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0007598HP:0007598Bilateral single transverse palmar creases0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0007598HP:0007598Bilateral single transverse palmar creases0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0007598HP:0007598Bilateral single transverse palmar creases0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent166
HP:0007598HP:0007598Bilateral single transverse palmar creases0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent48
HP:0007598HP:0007598Bilateral single transverse palmar creases0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0007598HP:0007598Bilateral single transverse palmar creases0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0007598HP:0007598Bilateral single transverse palmar creases0NOG CL E G H92417866ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent22
HP:0007598HP:0007598Bilateral single transverse palmar creases0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0007598HP:0007598Bilateral single transverse palmar creases0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent169
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent75
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent4
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent65
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent66
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent46
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent59
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent62
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent82
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent106
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent47
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent99
HP:0007598HP:0007598Bilateral single transverse palmar creases0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent98
HP:0007598HP:0007598Bilateral single transverse palmar creases0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0007598HP:0007598Bilateral single transverse palmar creases0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0007598HP:0007598Bilateral single transverse palmar creases0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0007598HP:0007598Bilateral single transverse palmar creases0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0007598HP:0007598Bilateral single transverse palmar creases0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0007598HP:0007598Bilateral single transverse palmar creases0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0007598HP:0007598Bilateral single transverse palmar creases0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0007598HP:0007598Bilateral single transverse palmar creases0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0007598HP:0007598Bilateral single transverse palmar creases0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0007598HP:0007598Bilateral single transverse palmar creases0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0007598HP:0007598Bilateral single transverse palmar creases0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0007598HP:0007598Bilateral single transverse palmar creases0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0007598HP:0007598Bilateral single transverse palmar creases0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0007598HP:0007598Bilateral single transverse palmar creases0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent37
HP:0007598HP:0007598Bilateral single transverse palmar creases0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent43
HP:0007598HP:0007598Bilateral single transverse palmar creases0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent54
HP:0007598HP:0007598Bilateral single transverse palmar creases0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional171
HP:0007598HP:0007598Bilateral single transverse palmar creases0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0007598HP:0007598Bilateral single transverse palmar creases0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0007598HP:0007598Bilateral single transverse palmar creases0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0007598HP:0007598Bilateral single transverse palmar creases0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0007598HP:0007598Bilateral single transverse palmar creases0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18


Genes (60) :BMPR1B BRD4 CCBE1 CD96 CHST3 CKAP2L DIS3L2 DPH1 ESCO2 EXT1 FGF9 FGFR2 FGFR3 FIG4 GDF5 HDAC4 HDAC8 KAT6B MYH3 NALCN NECTIN1 NIPBL NOG NUP188 NXN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA6 PTPRF RAD21 RNU4ATAC ROR2 SEPSECS SMAD2 SMC1A SMC3 SMOC1 TBX4 TELO2 TNNI2 TNNT3 TPM2 TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TWIST1

Diseases (31) :ORPHA:2639 ORPHA:199 OMIM:235510 ORPHA:1308 OMIM:143095 ORPHA:3255 ORPHA:2849 ORPHA:459061 ORPHA:3103 ORPHA:502 ORPHA:3237 ORPHA:794 OMIM:216340 ORPHA:968 ORPHA:1001 ORPHA:3047 ORPHA:1147 ORPHA:3253 OMIM:618804 ORPHA:1507 ORPHA:742 ORPHA:44 ORPHA:2377 OMIM:616001 ORPHA:2636 ORPHA:353298 ORPHA:2524 OMIM:619657 ORPHA:1106 ORPHA:261279 ORPHA:488642
 

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