Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Syndactyly (HP:0001159)help
..Starting node
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Cutaneous syndactyly (HP:0012725)help
Term ID: 12725
Name: Cutaneous syndactyly
Synonym: Cutaneous syndactyly of digits; Syndactyly, cutaneous
Definition: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Comments:
Reference: HP:0012725
Genes and Diseases:
 
       Child Nodes:
........expandCutaneous finger syndactyly (HP:0010554) help
................... HP:0005650 Cutaneous syndactyly between fingers 2 and 5
................... HP:0006088 1-5 finger complete cutaneous syndactyly
................... HP:0011939 3-4 finger cutaneous syndactyly
........expandCutaneous syndactyly of toes (HP:0010621) help
................... HP:0005709 2-3 toe cutaneous syndactyly
................... HP:0005767 1-2 toe complete cutaneous syndactyly
................... HP:0005768 2-4 toe cutaneous syndactyly

 Sister Nodes: 
..expandFinger syndactyly (HP:0006101) help
..expandToe syndactyly (HP:0001770) 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:0012725HP:0012725Cutaneous syndactyly0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0012725HP:0012725Cutaneous syndactyly0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0012725HP:0012725Cutaneous syndactyly0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0012725HP:0012725Cutaneous syndactyly0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0012725HP:0012725Cutaneous syndactyly0BHLHA9 CL E G H72785735126OMIM:607539Camptosynpolydactyly, complex.4
HP:0012725HP:0012725Cutaneous syndactyly0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0012725HP:0012725Cutaneous syndactyly0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0012725HP:0012725Cutaneous syndactyly0CACNA1C CL E G H7751390OMIM:620029572
HP:0012725HP:0012725Cutaneous syndactyly0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0012725HP:0012725Cutaneous syndactyly0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0012725HP:0012725Cutaneous syndactyly0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0012725HP:0012725Cutaneous syndactyly0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1HP:0040284 - Very rare1003
HP:0012725HP:0012725Cutaneous syndactyly0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0012725HP:0012725Cutaneous syndactyly0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0012725HP:0012725Cutaneous syndactyly0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0012725HP:0012725Cutaneous syndactyly0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0012725HP:0012725Cutaneous syndactyly0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0012725HP:0012725Cutaneous syndactyly0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012725HP:0012725Cutaneous syndactyly0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2HP:0040284 - Very rare
HP:0012725HP:0012725Cutaneous syndactyly0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0012725HP:0012725Cutaneous syndactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0012725HP:0012725Cutaneous syndactyly0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0012725HP:0012725Cutaneous syndactyly0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0012725HP:0012725Cutaneous syndactyly0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0012725HP:0012725Cutaneous syndactyly0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0012725HP:0012725Cutaneous syndactyly0FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 375
HP:0012725HP:0012725Cutaneous syndactyly0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0012725HP:0012725Cutaneous syndactyly0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0012725HP:0012725Cutaneous syndactyly0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0012725HP:0012725Cutaneous syndactyly0FREM2 CL E G H34164025396OMIM:617666Fraser syndrome 2.263
HP:0012725HP:0012725Cutaneous syndactyly0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0012725HP:0012725Cutaneous syndactyly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0012725HP:0012725Cutaneous syndactyly0GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0012725HP:0012725Cutaneous syndactyly0GRIP1 CL E G H2342618708OMIM:617667Fraser syndrome 3.80
HP:0012725HP:0012725Cutaneous syndactyly0H4C9 CL E G H82944793OMIM:619951
HP:0012725HP:0012725Cutaneous syndactyly0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V25
HP:0012725HP:0012725Cutaneous syndactyly0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0012725HP:0012725Cutaneous syndactyly0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0012725HP:0012725Cutaneous syndactyly0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0012725HP:0012725Cutaneous syndactyly0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040283 - Occasional167
HP:0012725HP:0012725Cutaneous syndactyly0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0012725HP:0012725Cutaneous syndactyly0LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV106
HP:0012725HP:0012725Cutaneous syndactyly0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2124
HP:0012725HP:0012725Cutaneous syndactyly0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0012725HP:0012725Cutaneous syndactyly0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0012725HP:0012725Cutaneous syndactyly0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0012725HP:0012725Cutaneous syndactyly0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0012725HP:0012725Cutaneous syndactyly0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0012725HP:0012725Cutaneous syndactyly0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 793
HP:0012725HP:0012725Cutaneous syndactyly0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0012725HP:0012725Cutaneous syndactyly0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0012725HP:0012725Cutaneous syndactyly0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0012725HP:0012725Cutaneous syndactyly0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0012725HP:0012725Cutaneous syndactyly0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0012725HP:0012725Cutaneous syndactyly0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0012725HP:0012725Cutaneous syndactyly0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0012725HP:0012725Cutaneous syndactyly0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0012725HP:0012725Cutaneous syndactyly0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012725HP:0012725Cutaneous syndactyly0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0012725HP:0012725Cutaneous syndactyly0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0012725HP:0012725Cutaneous syndactyly0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0012725HP:0012725Cutaneous syndactyly0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0012725HP:0012725Cutaneous syndactyly0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0012725HP:0012725Cutaneous syndactyly0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0012725HP:0012725Cutaneous syndactyly0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0012725HP:0012725Cutaneous syndactyly0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012725HP:0012725Cutaneous syndactyly0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0012725HP:0012725Cutaneous syndactyly0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0012725HP:0012725Cutaneous syndactyly0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0012725HP:0012725Cutaneous syndactyly0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0012725HP:0012725Cutaneous syndactyly0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0012725HP:0012725Cutaneous syndactyly0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0012725HP:0012725Cutaneous syndactyly0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0012725HP:0012725Cutaneous syndactyly0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0012725HP:0012725Cutaneous syndactyly0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2HP:0040284 - Very rare14
HP:0012725HP:0010621Cutaneous syndactyly of toes1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0012725HP:0010621Cutaneous syndactyly of toes1CACNA1C CL E G H7751390OMIM:620029572
HP:0012725HP:0010554Cutaneous finger syndactyly1CACNA1C CL E G H7751390OMIM:620029572
HP:0012725HP:0010621Cutaneous syndactyly of toes1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0012725HP:0010554Cutaneous finger syndactyly1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0012725HP:0010554Cutaneous finger syndactyly1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0012725HP:0010554Cutaneous finger syndactyly1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0012725HP:0010554Cutaneous finger syndactyly1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0012725HP:0010621Cutaneous syndactyly of toes1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012725HP:0010554Cutaneous finger syndactyly1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0012725HP:0010621Cutaneous syndactyly of toes1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0012725HP:0010621Cutaneous syndactyly of toes1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0012725HP:0010621Cutaneous syndactyly of toes1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0012725HP:0010554Cutaneous finger syndactyly1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0012725HP:0010621Cutaneous syndactyly of toes1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0012725HP:0010621Cutaneous syndactyly of toes1FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 3HP:0040284 - Very rare75
HP:0012725HP:0010554Cutaneous finger syndactyly1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0012725HP:0010554Cutaneous finger syndactyly1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0012725HP:0010621Cutaneous syndactyly of toes1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0012725HP:0010554Cutaneous finger syndactyly1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0012725HP:0010554Cutaneous finger syndactyly1GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0012725HP:0010554Cutaneous finger syndactyly1H4C9 CL E G H82944793OMIM:619951
HP:0012725HP:0010554Cutaneous finger syndactyly1HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V.25
HP:0012725HP:0010554Cutaneous finger syndactyly1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0012725HP:0010554Cutaneous finger syndactyly1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0012725HP:0010554Cutaneous finger syndactyly1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0012725HP:0010554Cutaneous finger syndactyly1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040284 - Very rare68
HP:0012725HP:0010554Cutaneous finger syndactyly1LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV106
HP:0012725HP:0010554Cutaneous finger syndactyly1LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0012725HP:0010621Cutaneous syndactyly of toes1MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0012725HP:0010621Cutaneous syndactyly of toes1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0012725HP:0010621Cutaneous syndactyly of toes1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0012725HP:0010554Cutaneous finger syndactyly1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0012725HP:0010621Cutaneous syndactyly of toes1MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0012725HP:0010554Cutaneous finger syndactyly1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0012725HP:0010621Cutaneous syndactyly of toes1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0012725HP:0010554Cutaneous finger syndactyly1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0012725HP:0010621Cutaneous syndactyly of toes1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0012725HP:0010554Cutaneous finger syndactyly1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0012725HP:0010621Cutaneous syndactyly of toes1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0012725HP:0010554Cutaneous finger syndactyly1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0012725HP:0010554Cutaneous finger syndactyly1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0012725HP:0010554Cutaneous finger syndactyly1PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040281 - Very frequent59
HP:0012725HP:0010554Cutaneous finger syndactyly1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0012725HP:0010554Cutaneous finger syndactyly1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0012725HP:0010554Cutaneous finger syndactyly1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012725HP:0010554Cutaneous finger syndactyly1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1HP:0040283 - OccasionalHP:0003577 - Congenital onset120
HP:0012725HP:0010621Cutaneous syndactyly of toes1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0012725HP:0010621Cutaneous syndactyly of toes1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0012725HP:0010554Cutaneous finger syndactyly1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0012725HP:0010621Cutaneous syndactyly of toes1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0012725HP:0010621Cutaneous syndactyly of toes1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndromeHP:0040283 - Occasional6
HP:0012725HP:0010621Cutaneous syndactyly of toes1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012725HP:0010554Cutaneous finger syndactyly1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0012725HP:0010621Cutaneous syndactyly of toes1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0012725HP:0010621Cutaneous syndactyly of toes1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0012725HP:0010554Cutaneous finger syndactyly1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0012725HP:0010554Cutaneous finger syndactyly1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4HP:0040283 - Occasional95
HP:0012725HP:00057092-3 toe cutaneous syndactyly2BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0012725HP:00119393-4 finger cutaneous syndactyly2CACNA1C CL E G H7751390OMIM:620029572
HP:0012725HP:00057092-3 toe cutaneous syndactyly2CACNA1C CL E G H7751390OMIM:620029572
HP:0012725HP:00057092-3 toe cutaneous syndactyly2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0012725HP:00057682-4 toe cutaneous syndactyly2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0012725HP:00056502-5 finger cutaneous syndactyly2CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0012725HP:00057092-3 toe cutaneous syndactyly2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0012725HP:00057682-4 toe cutaneous syndactyly2DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0012725HP:00057092-3 toe cutaneous syndactyly2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0012725HP:00057682-4 toe cutaneous syndactyly2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0012725HP:00119393-4 finger cutaneous syndactyly2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0012725HP:00119393-4 finger cutaneous syndactyly2H4C9 CL E G H82944793OMIM:619951
HP:0012725HP:00119393-4 finger cutaneous syndactyly2KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0012725HP:00119393-4 finger cutaneous syndactyly2KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0012725HP:00060881-5 finger complete cutaneous syndactyly2LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV.106
HP:0012725HP:00057671-2 toe complete cutaneous syndactyly2MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0012725HP:00057092-3 toe cutaneous syndactyly2MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0012725HP:00057092-3 toe cutaneous syndactyly2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0012725HP:00057092-3 toe cutaneous syndactyly2NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0012725HP:00057092-3 toe cutaneous syndactyly2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0012725HP:00057092-3 toe cutaneous syndactyly2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0012725HP:00057682-4 toe cutaneous syndactyly2SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012725HP:00119393-4 finger cutaneous syndactyly2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0012725HP:00057092-3 toe cutaneous syndactyly2TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0012725HP:00057092-3 toe cutaneous syndactyly2TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2


Genes (69) :ANKRD11 ATP6V1B2 BCOR BHLHA9 BICRA BLTP1 CACNA1C CAMTA1 CCBE1 CDH1 CDH11 CEP55 CHSY1 CHUK CKAP2L CREBBP CTNND1 DCHS1 DHCR7 DYRK1A EP300 FAT4 FGF16 FGF9 FGFR2 FIG4 FRAS1 FREM2 GJA1 GLI3 GRIP1 H4C9 HOXD13 IRF6 KAT6A KCTD1 KIF7 LEMD3 LMBR1 LRP4 MAP3K20 MCTP2 MECP2 MEGF8 MEIS2 MYH8 NECTIN1 NECTIN4 NOG ORC1 PAX3 PIEZO2 PPP2R3C RBM10 ROR2 RPL10 SCARF2 SETBP1 SLC39A8 SMARCAD1 SVBP TBC1D24 TMEM94 TP63 TRRAP TWIST1 TWIST2 WDR19 XYLT1

Diseases (74) :OMIM:148050 ORPHA:2332 ORPHA:79500 OMIM:300166 OMIM:607539 OMIM:619325 OMIM:617822 OMIM:620029 OMIM:601005 OMIM:614756 OMIM:235510 OMIM:119580 OMIM:211380 OMIM:236500 ORPHA:363417 OMIM:619339 OMIM:272440 OMIM:618332 OMIM:617681 OMIM:601390 OMIM:270400 ORPHA:268261 OMIM:618333 OMIM:615546 OMIM:309630 OMIM:612961 OMIM:101200 OMIM:216340 OMIM:219000 OMIM:617666 OMIM:257850 ORPHA:672 ORPHA:93322 OMIM:617667 OMIM:619951 OMIM:186300 OMIM:119500 OMIM:616268 OMIM:181270 ORPHA:166024 ORPHA:1306 OMIM:186200 OMIM:614305 ORPHA:488232 ORPHA:1596 OMIM:300260 OMIM:614976 OMIM:600987 OMIM:158300 OMIM:225060 OMIM:613573 OMIM:611377 OMIM:186500 OMIM:224690 ORPHA:896 OMIM:148820 OMIM:114300 OMIM:618419 OMIM:311900 OMIM:113000 OMIM:300998 OMIM:600920 OMIM:616078 ORPHA:468699 OMIM:129200 OMIM:618569 OMIM:618316 ORPHA:69085 OMIM:129400 OMIM:618454 OMIM:617746 OMIM:200110 OMIM:614378 OMIM:615777
 

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