Human Phenotype Ontology 
Grandparent Node:
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Abnormality of toe (HP:0001780)help
Grandparent Node:
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Syndactyly (HP:0001159)help
Parent Node:
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Toe syndactyly (HP:0001770)help
..Starting node
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2-3 toe syndactyly (HP:0004691)help
Term ID: 4691
Name: 2-3 toe syndactyly
Synonym: 2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes
Definition: Syndactyly with fusion of toes two and three.
Comments:
Reference: HP:0004691
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand1-2 toe syndactyly (HP:0010711) help
..expand1-3 toe syndactyly (HP:0001459) help
..expand1-4 toe syndactyly (HP:0010712) help
..expand1-5 toe syndactyly (HP:0010713) help
..expand2-4 toe syndactyly (HP:0010714) help
..expand2-5 toe syndactyly (HP:0010715) help
..expand3-4 toe syndactyly (HP:0009779) help
..expand3-5 toe syndactyly (HP:0010716) help
..expand4-5 toe syndactyly (HP:0004692) help
..expandCutaneous syndactyly of toes (HP:0010621) help
..expandOsseous syndactyly of toes (HP:0010717) 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:0004691HP:00046912-3 toe syndactyly0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0004691HP:00046912-3 toe syndactyly0ALDH1A2 CL E G H885415472OMIM:620025
HP:0004691HP:00046912-3 toe syndactyly0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0004691HP:00046912-3 toe syndactyly0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0004691HP:00046912-3 toe syndactyly0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0004691HP:00046912-3 toe syndactyly0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0004691HP:00046912-3 toe syndactyly0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0004691HP:00046912-3 toe syndactyly0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040282 - Frequent101
HP:0004691HP:00046912-3 toe syndactyly0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0004691HP:00046912-3 toe syndactyly0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0004691HP:00046912-3 toe syndactyly0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0004691HP:00046912-3 toe syndactyly0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0004691HP:00046912-3 toe syndactyly0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly.2
HP:0004691HP:00046912-3 toe syndactyly0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0004691HP:00046912-3 toe syndactyly0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0004691HP:00046912-3 toe syndactyly0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0004691HP:00046912-3 toe syndactyly0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0004691HP:00046912-3 toe syndactyly0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0004691HP:00046912-3 toe syndactyly0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0004691HP:00046912-3 toe syndactyly0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004691HP:00046912-3 toe syndactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0004691HP:00046912-3 toe syndactyly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0004691HP:00046912-3 toe syndactyly0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0004691HP:00046912-3 toe syndactyly0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0004691HP:00046912-3 toe syndactyly0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004691HP:00046912-3 toe syndactyly0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0004691HP:00046912-3 toe syndactyly0FGFR1 CL E G H22603688OMIM:123150Jackson-Weiss syndrome.172
HP:0004691HP:00046912-3 toe syndactyly0FGFR2 CL E G H22633689OMIM:123150Jackson-Weiss syndrome.175
HP:0004691HP:00046912-3 toe syndactyly0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040283 - Occasional175
HP:0004691HP:00046912-3 toe syndactyly0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0004691HP:00046912-3 toe syndactyly0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0004691HP:00046912-3 toe syndactyly0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0004691HP:00046912-3 toe syndactyly0H4C9 CL E G H82944793OMIM:619951
HP:0004691HP:00046912-3 toe syndactyly0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004691HP:00046912-3 toe syndactyly0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040282 - Frequent25
HP:0004691HP:00046912-3 toe syndactyly0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0004691HP:00046912-3 toe syndactyly0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0004691HP:00046912-3 toe syndactyly0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomaliesHP:0040283 - Occasional8
HP:0004691HP:00046912-3 toe syndactyly0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0004691HP:00046912-3 toe syndactyly0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0004691HP:00046912-3 toe syndactyly0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0004691HP:00046912-3 toe syndactyly0KMT2B CL E G H975715840OMIM:61993411
HP:0004691HP:00046912-3 toe syndactyly0LMBR1 CL E G H6432713243OMIM:186200Syndactyly, type IV.106
HP:0004691HP:00046912-3 toe syndactyly0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0004691HP:00046912-3 toe syndactyly0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0004691HP:00046912-3 toe syndactyly0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0004691HP:00046912-3 toe syndactyly0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0004691HP:00046912-3 toe syndactyly0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0004691HP:00046912-3 toe syndactyly0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0004691HP:00046912-3 toe syndactyly0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0004691HP:00046912-3 toe syndactyly0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0004691HP:00046912-3 toe syndactyly0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0004691HP:00046912-3 toe syndactyly0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0004691HP:00046912-3 toe syndactyly0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0004691HP:00046912-3 toe syndactyly0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0004691HP:00046912-3 toe syndactyly0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0004691HP:00046912-3 toe syndactyly0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0004691HP:00046912-3 toe syndactyly0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004691HP:00046912-3 toe syndactyly0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0004691HP:00046912-3 toe syndactyly0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0004691HP:00046912-3 toe syndactyly0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0004691HP:00046912-3 toe syndactyly0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0004691HP:00046912-3 toe syndactyly0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0004691HP:00046912-3 toe syndactyly0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0004691HP:00046912-3 toe syndactyly0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0004691HP:00046912-3 toe syndactyly0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 3.3
HP:0004691HP:00046912-3 toe syndactyly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0004691HP:00046912-3 toe syndactyly0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004691HP:00046912-3 toe syndactyly0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0004691HP:00046912-3 toe syndactyly0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0004691HP:00046912-3 toe syndactyly0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004691HP:00046912-3 toe syndactyly0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0004691HP:00046912-3 toe syndactyly0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0004691HP:00046912-3 toe syndactyly0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0004691HP:00046912-3 toe syndactyly0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0004691HP:00046912-3 toe syndactyly0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0004691HP:00046912-3 toe syndactyly0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0004691HP:00046912-3 toe syndactyly0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0004691HP:00046912-3 toe syndactyly0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0004691HP:00046912-3 toe syndactyly0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0004691HP:00046912-3 toe syndactyly0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0004691HP:00046912-3 toe syndactyly0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0004691HP:00046912-3 toe syndactyly0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0004691HP:00046912-3 toe syndactyly0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0004691HP:00046912-3 toe syndactyly0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0004691HP:00046912-3 toe syndactyly0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0004691HP:00046912-3 toe syndactyly0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0004691HP:00046912-3 toe syndactyly0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0004691HP:00046912-3 toe syndactyly0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0004691HP:00046912-3 toe syndactyly0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA


Genes (83) :ADNP ALDH1A2 AP1G1 APC2 ARCN1 BBS7 BCOR BHLHA9 BMP2 BMPR1B CDC45 CEP55 CERT1 CLCF1 CNOT2 CSGALNACT1 CTCF DDX11 DDX6 DHCR7 EBP FBXW11 FDFT1 FGFR1 FGFR2 GDF5 GNE H4C9 HEPHL1 HOXD13 IFT172 IFT43 IL11RA KCNJ2 KCNJ5 KCTD1 KMT2B LMBR1 MAB21L2 MAN1B1 MAPRE2 MED25 MEF2C MEIS2 MYCN MYRF NEDD4L NIPBL NOG NSD1 PDE6D PHIP PIGY POLR3A PSMD12 PUF60 RAD21 RAI1 RALA RBPJ SALL1 SATB1 SETD2 SETD5 SHANK3 SHMT2 SIK3 SLC12A2 SLC12A6 SMAD4 SOX5 STAG1 SYT1 TBCK TBX15 TP63 TRIO TRMT5 TTI2 TXNL4A UBE2A WDPCP ZMIZ1

Diseases (84) :ORPHA:404448 OMIM:620025 OMIM:619467 ORPHA:821 OMIM:617164 OMIM:615984 OMIM:300166 ORPHA:2712 ORPHA:157801 OMIM:112600 OMIM:617063 OMIM:236500 OMIM:616351 OMIM:610313 OMIM:618608 OMIM:618870 ORPHA:363611 OMIM:613398 OMIM:618653 OMIM:270400 ORPHA:818 ORPHA:401973 OMIM:300960 OMIM:618914 OMIM:618156 OMIM:123150 ORPHA:1540 ORPHA:3166 OMIM:269921 OMIM:619951 OMIM:261990 ORPHA:93406 OMIM:619471 OMIM:617866 OMIM:614188 ORPHA:37553 OMIM:181270 OMIM:619934 OMIM:186200 OMIM:615877 ORPHA:397941 OMIM:616734 ORPHA:464738 OMIM:613443 OMIM:600987 OMIM:164280 ORPHA:391641 OMIM:618280 OMIM:617201 OMIM:122470 OMIM:186500 OMIM:615665 ORPHA:589905 OMIM:616809 ORPHA:3455 OMIM:617516 ORPHA:508498 OMIM:614701 ORPHA:477817 OMIM:619311 OMIM:614814 OMIM:107480 OMIM:619229 ORPHA:404440 OMIM:606232 OMIM:619121 OMIM:618162 OMIM:619080 OMIM:218000 OMIM:139210 ORPHA:313892 ORPHA:502434 ORPHA:522077 ORPHA:488632 OMIM:260660 OMIM:106260 OMIM:617061 ORPHA:476126 OMIM:616539 ORPHA:391307 OMIM:608572 OMIM:300860 OMIM:217085 OMIM:618659
 

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