| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.9%) |
7717427 |
Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations. Camera G, Camera A, Pozzolo S, Costa M, Mantero R. Am J Med Genet. 1995;55(2):244-6. |
| Aplasia/Hypoplasia of the middle phalanges of the toes | ||
| Adult Congenital Hand Deformities Females Hand Homo sapiens Infant Male Syndactyly Toes | ||
| 2 (35.4%) |
23948678 |
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X. Bone. 2013;57(1):237-41. |
| Syndactyly Finger clinodactyly | ||
| HOXD13 | ||
| c|SUB|G|659|C p|SUB|G|220|A rs121912541 | ||
| Females Homeodomain Proteins Homo sapiens Male Mutagenesis, Site-Directed Mutation Syndactyly | ||
| 3 (31.0%) |
28794915 |
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. Radhakrishnan P, Nayak SS, Pai MV, Shukla A, Girisha KM. J Pediatr Genet. 2017;6(3):194-197. |
| Syndactyly | ||
| HOXD13 | ||
| c|DEL|708_708|C | ||
| 3 (31.0%) |
22406499 |
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly. Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y, Liu Q. Gene. 2012;499(1):48-51. |
| Syndactyly | ||
| HOXD13 | ||
| Adult Asians Child, Preschool DNA Mutational Analysis Family Females Genes, Homeobox Genetic Association Studies Homeodomain Proteins Homo sapiens Infant Male Middle Aged Syndactyly Trinucleotide Repeat Expansion | ||
| 3 (31.0%) |
22267994 (3261597) |
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. Kundaragi NG, Taori K, Kumawat R, Rathod J, Sawant AE. J Clin Imaging Sci. 2011;1:59. |
| Nail dysplasia Postaxial polydactyly | ||
| 3 (31.0%) |
21184235 |
Plastic repair for a case with synpolydactyly. Tian F, Tian LJ, Zhao W, Li XC, Li B, Ji XL. Arch Orthop Trauma Surg. 2011;131(6):869-73. |
| Syndactyly | ||
| Child, Preschool Fingers Homo sapiens Male Polydactyly Reconstructive Surgical Procedures Skin Transplantation Syndactyly Toes | ||
| 3 (31.0%) |
20717165 |
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression. Al-Qattan MM. Eur J Hum Genet. 2011;19(1):112-4. |
| Syndactyly | ||
| Congenital Foot Deformity Congenital Hand Deformities Females Fingers Foot Hand Homo sapiens Male Phenotype Syndactyly Toes | ||
| 3 (31.0%) |
16139401 |
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly. Al-Qattan MM. J Hand Surg Br. 2006;31(1):118-20. |
| Syndactyly | ||
| Females Fingers Homo sapiens Infant Male Polydactyly Syndactyly | ||
| 3 (31.0%) |
12900906 |
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Kan SH, Johnson D, Giele H, Wilkie AO. Am J Med Genet A. 2003;121A(1):69-74. |
| Syndactyly | ||
| HOXD13 | ||
| c|DEL|758-2|A rs764838478 | ||
| Base Sequence Child, Preschool Congenital Foot Deformity Congenital Hand Deformities DNA Mutational Analysis DNA Primers Homeodomain Proteins Homo sapiens Male RNA Splice Sites Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Sequence Deletion Single-Stranded Conformational Polymorphism Syndactyly | ||
| 3 (31.0%) |
10364522 |
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W. Am J Hum Genet. 1999;65(1):104-10. |
| Syndactyly | ||
| HOXA13 HOXA@ HOXB@ HOXD13 HOXD3 HOXD@ | ||
| Child, Preschool Chromosomes, Human, Pair 2 DNA-Binding Proteins Gene Deletion Gene Dosage Genetic Markers Homeodomain Proteins Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Male Genital Organs Molecular Sequence Data Multigene Family |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004691 | 2-3 toe syndactyly | Very frequent (99-80%) |
| HP:0006097 | 3-4 finger syndactyly | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0001830 | Postaxial foot polydactyly | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0001841 | Preaxial foot polydactyly | Occasional (29-5%) |
| HP:0001852 | Sandal gap | Occasional (29-5%) |
| HP:0100260 | Mesoaxial polydactyly | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 9 |
| HP:0002650 | Scoliosis | 1 |
| HP:0006101 | Finger syndactyly | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|