Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Parent Node:
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Abnormality of toe (HP:0001780)help
..Starting node
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Overlapping toe (HP:0001845)help
Term ID: 1845
Name: Overlapping toe
Synonym: Crossover toe; Overlapping toe; Overlapping toes; Overriding toes
Definition: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
Comments:
Reference: HP:0001845
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the 2nd toe (HP:0010319) help
..expandAbnormality of the 3rd toe (HP:0010320) help
..expandAbnormality of the 4th toe (HP:0010321) help
..expandAbnormality of the 5th toe (HP:0010322) help
..expandAbnormality of the epiphyses of the toes (HP:0010160) help
..expandAbnormality of the hallux (HP:0001844) help
..expandAbnormality of the phalanges of the toes (HP:0010161) help
..expandAinhum (HP:0031009) help
..expandAplasia/Hypoplasia of toe (HP:0001991) help
..expandBroad toe (HP:0001837) help
..expandBulbous tips of toes (HP:0001782) help
..expandDeviation of toes (HP:0100498) help
..expandDislocation of toes (HP:0008141) help
..expandFlexion contracture of toe (HP:0005830) help
..expandFoot polydactyly (HP:0001829) help
..expandHammertoe (HP:0001765) help
..expandHypermobility of toe joints (HP:0010510) help
..expandLong toe (HP:0010511) help
..expandMacrodactyly of toe (HP:0100747) help
..expandSandal gap (HP:0001852) help
..expandSlender toe (HP:0011308) help
..expandSplayed toes (HP:0011307) help
..expandTapered toe (HP:0011309) help
..expandToe dactylitis (HP:0031091) help
..expandToe syndactyly (HP:0001770) help
..expandWidely spaced toes (HP:0008094) 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:0001845HP:0001845Overlapping toe0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0001845HP:0001845Overlapping toe0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001845HP:0001845Overlapping toe0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0001845HP:0001845Overlapping toe0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001845HP:0001845Overlapping toe0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001845HP:0001845Overlapping toe0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0001845HP:0001845Overlapping toe0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0001845HP:0001845Overlapping toe0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0001845HP:0001845Overlapping toe0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0001845HP:0001845Overlapping toe0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0001845HP:0001845Overlapping toe0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0001845HP:0001845Overlapping toe0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001845HP:0001845Overlapping toe0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001845HP:0001845Overlapping toe0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome.159
HP:0001845HP:0001845Overlapping toe0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001845HP:0001845Overlapping toe0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001845HP:0001845Overlapping toe0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001845HP:0001845Overlapping toe0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0001845HP:0001845Overlapping toe0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0001845HP:0001845Overlapping toe0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0001845HP:0001845Overlapping toe0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001845HP:0001845Overlapping toe0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4.64
HP:0001845HP:0001845Overlapping toe0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001845HP:0001845Overlapping toe0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001845HP:0001845Overlapping toe0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0001845HP:0001845Overlapping toe0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0001845HP:0001845Overlapping toe0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001845HP:0001845Overlapping toe0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001845HP:0001845Overlapping toe0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0001845HP:0001845Overlapping toe0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001845HP:0001845Overlapping toe0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001845HP:0001845Overlapping toe0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0001845HP:0001845Overlapping toe0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0001845HP:0001845Overlapping toe0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0001845HP:0001845Overlapping toe0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001845HP:0001845Overlapping toe0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy.9
HP:0001845HP:0001845Overlapping toe0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0001845HP:0001845Overlapping toe0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001845HP:0001845Overlapping toe0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001845HP:0001845Overlapping toe0PDZD8 CL E G H11898726974OMIM:620021
HP:0001845HP:0001845Overlapping toe0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0001845HP:0001845Overlapping toe0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001845HP:0001845Overlapping toe0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0001845HP:0001845Overlapping toe0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0001845HP:0001845Overlapping toe0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0001845HP:0001845Overlapping toe0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1HP:0040283 - Occasional90
HP:0001845HP:0001845Overlapping toe0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0001845HP:0001845Overlapping toe0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001845HP:0001845Overlapping toe0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0001845HP:0001845Overlapping toe0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0001845HP:0001845Overlapping toe0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0001845HP:0001845Overlapping toe0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001845HP:0001845Overlapping toe0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001845HP:0001845Overlapping toe0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0001845HP:0001845Overlapping toe0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0001845HP:0001845Overlapping toe0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001845HP:0001845Overlapping toe0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001845HP:0001845Overlapping toe0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0001845HP:0001845Overlapping toe0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndromeHP:0040283 - Occasional11
HP:0001845HP:0001845Overlapping toe0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0001845HP:0001845Overlapping toe0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0001845HP:0001845Overlapping toe0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0001845HP:0001845Overlapping toe0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0001845HP:0001845Overlapping toe0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0001845HP:0001845Overlapping toe0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0001845HP:0001845Overlapping toe0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0001845HP:0001845Overlapping toe0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001845HP:0001845Overlapping toe0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0001845HP:0001845Overlapping toe0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0001845HP:0001845Overlapping toe0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0001845HP:0001845Overlapping toe0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68


Genes (65) :ARX ASXL1 ATN1 BLTP1 BPTF CCDC22 CCDC47 CDC42 CPLX1 CREBBP CTU2 DDX6 DHCR7 DLK1 EBP EP300 EXT2 EZH2 GDF6 GJA5 GJA8 GLI3 HNRNPK HUWE1 INTS1 INTS8 KAT8 MAPK1 MED12 MED25 MEG3 MYOD1 NEK9 OTUD6B PCGF2 PDZD8 PIEZO2 PPP1R21 PUF60 RAB11B RAB3GAP1 RAB3GAP2 RSPRY1 RTL1 SETBP1 SF3B4 SIN3A SLC35C1 SLC6A9 SMAD4 SNRPN SOD1 SOX5 TCF4 TELO2 THOC6 TMCO1 TMEM260 TMEM94 TPM2 UBE2A USP9X WIPI2 XYLT2 ZNF407

Diseases (68) :OMIM:300004 OMIM:605039 OMIM:618494 OMIM:617822 OMIM:617755 OMIM:300963 OMIM:618268 ORPHA:487796 OMIM:616737 OMIM:617976 OMIM:618332 OMIM:618142 OMIM:618653 OMIM:270400 ORPHA:254528 OMIM:300960 ORPHA:401973 OMIM:618333 OMIM:616682 ORPHA:466926 OMIM:277590 OMIM:617898 OMIM:612474 ORPHA:672 OMIM:616580 OMIM:309590 OMIM:618571 OMIM:618572 OMIM:618974 OMIM:619087 OMIM:300895 ORPHA:464738 OMIM:618975 OMIM:614262 ORPHA:505237 OMIM:617452 OMIM:618371 OMIM:620021 OMIM:114300 OMIM:619383 ORPHA:508498 OMIM:617807 OMIM:619420 OMIM:600118 OMIM:614225 ORPHA:457395 OMIM:616723 ORPHA:798 OMIM:154400 OMIM:613406 ORPHA:99843 OMIM:617301 OMIM:139210 ORPHA:177907 OMIM:618598 OMIM:616803 OMIM:610954 ORPHA:488642 ORPHA:363444 OMIM:213980 OMIM:617478 OMIM:618316 OMIM:108120 ORPHA:163956 ORPHA:480880 OMIM:618453 OMIM:605822 OMIM:619557
 

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