| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (35.4%) |
24965254 |
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. Norbnop P, Srichomthong C, Suphapeetiporn K, Shotelersuk V. J Hum Genet. 2014;59(8):467-70. |
| Triphalangeal thumb | ||
| c|SUB|A|406|G rs606231147 | ||
| Adult Child, Preschool Congenital Hand Deformities Enhancer Elements, Genetic Females Genetic Predisposition to Disease Heterozygote Homo sapiens Infant Male Middle Aged Multiprotein Complexes Phenotype Point Mutation Polydactyly |
Total: 15
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0002991 | Abnormality of fibula morphology | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0005736 | Short tibia | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0010503 | Fibular duplication | Very frequent (99-80%) |
| HP:0012107 | Increased fibular diameter | Very frequent (99-80%) |
| HP:0001177 | Preaxial hand polydactyly | Frequent (79-30%) |
| HP:0000437 | Depressed nasal tip | Occasional (29-5%) |
| HP:0001199 | Triphalangeal thumb | Occasional (29-5%) |
| HP:0001376 | Limitation of joint mobility | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001199 | Triphalangeal thumb | 1 |
| HP:0010442 | Polydactyly | 1 |