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; Complete cutaneous syndactyly of second and third toes; Cutaneous 2,3 toe syndactyly; Cutaneous syndactyly of second and third toes; 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004691HP:00046912-3 toe syndactyly0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0004691HP:00046912-3 toe syndactyly0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15541520893300485
HP:0004691HP:00046912-3 toe syndactyly0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0004691HP:00046912-3 toe syndactyly0BHLHA9 CL E G H727857157801ORPHA14411835126615416
HP:0004691HP:00046912-3 toe syndactyly0BMP2 CL E G H650112600Type A2 brachydactyly112600C1832702OMIM137691069112261
HP:0004691HP:00046912-3 toe syndactyly0BMPR1B CL E G H658112600Type A2 brachydactyly112600C1832702OMIM1241951077603248
HP:0004691HP:00046912-3 toe syndactyly0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0004691HP:00046912-3 toe syndactyly0CEP55 CL E G H55165236500Hydranencephaly with renal aplasia-dysplasia236500C1856053OMIM12341161610000
HP:0004691HP:00046912-3 toe syndactyly0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM142517412607672
HP:0004691HP:00046912-3 toe syndactyly0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0004691HP:00046912-3 toe syndactyly0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0004691HP:00046912-3 toe syndactyly0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0004691HP:00046912-3 toe syndactyly0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0004691HP:00046912-3 toe syndactyly0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0004691HP:00046912-3 toe syndactyly0FGFR1 CL E G H2260123150Jackson-Weiss syndrome123150C0795998OMIM12653883688136350
HP:0004691HP:00046912-3 toe syndactyly0FGFR2 CL E G H2263123150Jackson-Weiss syndrome123150C0795998OMIM11593363689176943
HP:0004691HP:00046912-3 toe syndactyly0GDF5 CL E G H8200112600Type A2 brachydactyly112600C1832702OMIM159984220601146
HP:0004691HP:00046912-3 toe syndactyly0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0004691HP:00046912-3 toe syndactyly0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0004691HP:00046912-3 toe syndactyly0HOXD13 CL E G H323993406ORPHA142715136142989
HP:0004691HP:00046912-3 toe syndactyly0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0004691HP:00046912-3 toe syndactyly0LMBR1 CL E G H64327186200Syndactyly, type IV186200C1861355OMIM11124013243605522
HP:0004691HP:00046912-3 toe syndactyly0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0004691HP:00046912-3 toe syndactyly0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM1102937728606384
HP:0004691HP:00046912-3 toe syndactyly0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0004691HP:00046912-3 toe syndactyly0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0004691HP:00046912-3 toe syndactyly0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0004691HP:00046912-3 toe syndactyly0RBPJ CL E G H3516614814Adams-Oliver syndrome 3614814C3553748OMIM110735724147183
HP:0004691HP:00046912-3 toe syndactyly0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0004691HP:00046912-3 toe syndactyly0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0004691HP:00046912-3 toe syndactyly0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM123229165614776
HP:0004691HP:00046912-3 toe syndactyly0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0004691HP:00046912-3 toe syndactyly0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0004691HP:00046912-3 toe syndactyly0SOX5 CL E G H6660313892ORPHA12914611201604975
HP:0004691HP:00046912-3 toe syndactyly0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0004691HP:00046912-3 toe syndactyly0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112828215979603273
HP:0004691HP:00046912-3 toe syndactyly0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0004691HP:00046912-3 toe syndactyly0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM11317630551611595
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004691HP:00046912-3 toe syndactyly0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA01593363689176943
HP:0004691HP:00046912-3 toe syndactyly0IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0004691HP:00046912-3 toe syndactyly0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM0461037559164840


Genes (37) :ARCN1 BCOR BHLHA9 BMP2 BMPR1B CDC45 CEP55 CLCF1 COL4A3BP DDX11 DHCR7 EBP FGFR1 FGFR2 GDF5 GNE HOXD13 IL11RA KCTD1 LMBR1 MEIS2 MYCN NEDD4L NIPBL NOG PIGY RBPJ SALL1 SHANK3 SIK3 SLC12A6 SMAD4 SOX5 TBX15 TP63 TRIO TXNL4A

Diseases (38) :617164 2712 300166 157801 112600 617063 236500 610313 616351 613398 818 270400 300960 123150 1540 3166 269921 93406 614188 181270 186200 600987 164280 617201 122470 186500 616809 614814 107480 606232 618162 218000 139210 313892 260660 106260 617061 608572
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.