Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
expand
Abnormal foot morphology (HP:0001760)help
Parent Node:
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Abnormality of toe (HP:0001780)help
..Starting node
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Sandal gap (HP:0001852)help
Term ID: 1852
Name: Sandal gap
Synonym: Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe
Definition: A widely spaced gap between the first toe (the great toe) and the second toe.
Comments:
Reference: HP:0001852
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
..expandOverlapping toe (HP:0001845) 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:0001852HP:0001852Sandal gap0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0001852HP:0001852Sandal gap0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001852HP:0001852Sandal gap0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001852HP:0001852Sandal gap0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0001852HP:0001852Sandal gap0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001852HP:0001852Sandal gap0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001852HP:0001852Sandal gap0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0001852HP:0001852Sandal gap0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0001852HP:0001852Sandal gap0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0001852HP:0001852Sandal gap0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0001852HP:0001852Sandal gap0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001852HP:0001852Sandal gap0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001852HP:0001852Sandal gap0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0001852HP:0001852Sandal gap0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0001852HP:0001852Sandal gap0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001852HP:0001852Sandal gap0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001852HP:0001852Sandal gap0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0001852HP:0001852Sandal gap0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0001852HP:0001852Sandal gap0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0001852HP:0001852Sandal gap0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001852HP:0001852Sandal gap0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0001852HP:0001852Sandal gap0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0001852HP:0001852Sandal gap0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0001852HP:0001852Sandal gap0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0001852HP:0001852Sandal gap0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0001852HP:0001852Sandal gap0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0001852HP:0001852Sandal gap0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001852HP:0001852Sandal gap0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0001852HP:0001852Sandal gap0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0001852HP:0001852Sandal gap0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001852HP:0001852Sandal gap0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0001852HP:0001852Sandal gap0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001852HP:0001852Sandal gap0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0001852HP:0001852Sandal gap0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040283 - Occasional4
HP:0001852HP:0001852Sandal gap0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0001852HP:0001852Sandal gap0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0001852HP:0001852Sandal gap0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0001852HP:0001852Sandal gap0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040283 - Occasional81
HP:0001852HP:0001852Sandal gap0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001852HP:0001852Sandal gap0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001852HP:0001852Sandal gap0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0001852HP:0001852Sandal gap0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0001852HP:0001852Sandal gap0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0001852HP:0001852Sandal gap0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001852HP:0001852Sandal gap0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0001852HP:0001852Sandal gap0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0001852HP:0001852Sandal gap0H4C9 CL E G H82944793OMIM:619951
HP:0001852HP:0001852Sandal gap0HEATR3 CL E G H5502726087OMIM:620072
HP:0001852HP:0001852Sandal gap0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0001852HP:0001852Sandal gap0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0001852HP:0001852Sandal gap0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0001852HP:0001852Sandal gap0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0001852HP:0001852Sandal gap0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001852HP:0001852Sandal gap0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001852HP:0001852Sandal gap0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0001852HP:0001852Sandal gap0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0001852HP:0001852Sandal gap0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001852HP:0001852Sandal gap0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001852HP:0001852Sandal gap0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0001852HP:0001852Sandal gap0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0001852HP:0001852Sandal gap0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0001852HP:0001852Sandal gap0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001852HP:0001852Sandal gap0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001852HP:0001852Sandal gap0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0001852HP:0001852Sandal gap0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040283 - Occasional544
HP:0001852HP:0001852Sandal gap0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0001852HP:0001852Sandal gap0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0001852HP:0001852Sandal gap0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001852HP:0001852Sandal gap0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0001852HP:0001852Sandal gap0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001852HP:0001852Sandal gap0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.162
HP:0001852HP:0001852Sandal gap0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0001852HP:0001852Sandal gap0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001852HP:0001852Sandal gap0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0001852HP:0001852Sandal gap0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0001852HP:0001852Sandal gap0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001852HP:0001852Sandal gap0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001852HP:0001852Sandal gap0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0001852HP:0001852Sandal gap0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0001852HP:0001852Sandal gap0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001852HP:0001852Sandal gap0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0001852HP:0001852Sandal gap0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0001852HP:0001852Sandal gap0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0001852HP:0001852Sandal gap0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0001852HP:0001852Sandal gap0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0001852HP:0001852Sandal gap0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0001852HP:0001852Sandal gap0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001852HP:0001852Sandal gap0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0001852HP:0001852Sandal gap0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040281 - Very frequent15
HP:0001852HP:0001852Sandal gap0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0001852HP:0001852Sandal gap0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040283 - Occasional1
HP:0001852HP:0001852Sandal gap0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0001852HP:0001852Sandal gap0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0001852HP:0001852Sandal gap0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0001852HP:0001852Sandal gap0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0001852HP:0001852Sandal gap0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001852HP:0001852Sandal gap0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0001852HP:0001852Sandal gap0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0001852HP:0001852Sandal gap0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0001852HP:0001852Sandal gap0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0001852HP:0001852Sandal gap0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0001852HP:0001852Sandal gap0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7


Genes (91) :ADNP AEBP1 ALG12 ARID1A ARID1B ATR ATRIP B3GALT6 B3GAT3 BCOR BCR BMP2 BPTF CANT1 CENPE CENPJ CEP152 CHST3 CILK1 COL11A2 COL1A2 COX7B CREBBP CRKL CTCF CUL4B DCPS DDX59 DPM1 DSP EED EFNB1 EP300 ESCO2 EZH2 FBXO11 FBXW11 FLNA FLNB GALNT2 GATA1 GMNN H4C9 HEATR3 HERC2 IFT43 IFT52 IFT57 IGF1R KAT6A LIG4 LTBP4 MAN2C1 MAPK1 MBD5 MEIS2 MTX2 NAA10 NBAS NSD1 NSUN2 NUP85 NXN PCNT PIEZO2 PIK3CA PLK4 PRKG2 RAI1 RBBP8 RHOA ROR2 SALL4 SATB1 SETBP1 SETD5 SLC26A2 SMARCA2 SMARCD2 SMARCE1 SMOC1 SUZ12 SVIL TBX4 TCF20 TNNT3 TRAIP TRIO TRIP12 VPS13B YY1

Diseases (85) :ORPHA:404448 ORPHA:536532 ORPHA:79324 OMIM:607143 OMIM:614607 OMIM:135900 ORPHA:808 OMIM:210600 ORPHA:2725 OMIM:245600 OMIM:300166 ORPHA:261330 OMIM:617877 OMIM:617755 OMIM:251450 OMIM:612651 ORPHA:1427 ORPHA:230851 OMIM:300887 OMIM:618332 ORPHA:363611 OMIM:300354 ORPHA:85293 OMIM:616459 OMIM:174300 ORPHA:79322 OMIM:609638 ORPHA:3447 ORPHA:1520 OMIM:618333 ORPHA:3103 OMIM:618089 OMIM:618914 ORPHA:90650 OMIM:311300 OMIM:108721 OMIM:618885 OMIM:190685 OMIM:616835 OMIM:619951 OMIM:620072 OMIM:615516 OMIM:614099 OMIM:617102 OMIM:617927 OMIM:270450 OMIM:616268 ORPHA:235 OMIM:613177 OMIM:619775 ORPHA:228402 OMIM:156200 OMIM:600987 OMIM:619127 OMIM:300855 OMIM:614800 ORPHA:1507 OMIM:617146 OMIM:612918 OMIM:619636 ORPHA:477817 OMIM:618727 ORPHA:959 OMIM:607323 OMIM:619229 OMIM:616078 OMIM:615761 ORPHA:56304 OMIM:256050 OMIM:601358 ORPHA:3051 OMIM:617475 OMIM:616938 ORPHA:1106 OMIM:206920 OMIM:619040 ORPHA:261279 OMIM:147891 OMIM:618430 OMIM:618435 OMIM:617061 OMIM:617752 ORPHA:193 ORPHA:506358 OMIM:617557
 

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