| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.4%) |
8484405 |
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? Wilson GN, King TE, Brookshire GS. Am J Med Genet. 1993;46(2):176-9. |
| Pierre-Robin sequence Micrognathia Short hallux | ||
| F8 | ||
| Child, Preschool Fingers Genetic Markers Homo sapiens Male Micrognathism Pierre Robin Syndrome Syndrome X Chromosome | ||
| 2 (53.4%) |
11920830 |
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. Kantaputra PN, Sumitsawan Y, Schutte BC, Tochareontanaphol C. Am J Med Genet. 2002;108(4):275-80. |
| Brachydactyly Pulp stones | ||
| Adult Child Child, Preschool Craniofacial Abnormalities Dental Pulp Fatal Outcome Females Homo sapiens Limb Deformities, Congenital Male Middle Aged Syndrome Thailand | ||
| 3 (49.1%) |
26366375 (4563870) |
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Mol Genet Metab Rep. 2015;4:89-91. |
| Pierre-Robin sequence Clinodactyly | ||
| p|SUB|A|100|S;RS#:140430952 rs140430952 rs754214510 rs764401457 | ||
| 4 (37.1%) |
22828468 |
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum. Gutierrez-Amavizca BE, Brambila-Tapia AJ, Juarez-Vazquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Nunez P. Eur J Med Genet. 2012;55(11):611-4. |
| Brachydactyly Angel-shaped phalanx | ||
| GDF5 | ||
| Bone Diseases, Developmental Brachydactyly Child Fingers Genetic Association Studies Heterozygote Homo sapiens Male Sequence Deletion | ||
| 5 (35.3%) |
23483675 (3589643) |
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW. Ann Lab Med. 2013;33(2):150-2. |
| Brachydactyly | ||
| GDF5 | ||
| c|SUB|C|1312|T p|SUB|R|438|C | ||
| Asians Brachydactyly Child DNA Mutational Analysis Females Fingers Homo sapiens Mutation South Korea | ||
| 5 (35.3%) |
9018415 |
Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition? Camera G, Costa M. Clin Dysmorphol. 1997;6(1):31-3. |
| Brachydactyly | ||
| Congenital Hand Deformities Deafness Heart Ventricle Homo sapiens Infant, Newborn Male | ||
| 7 (33.5%) |
25835322 |
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G. Pediatr Radiol. 2015;45(8):1239-43. |
| Hearing impairment Syndactyly Bracket epiphyses | ||
| SOST | ||
| Child, Preschool Congenital Hand Deformities Fingers Homo sapiens Hyperostosis Male Syndactyly | ||
| 8 (31.0%) |
18501694 |
Catel-Manzke syndrome: two new patients and a critical review of the literature. Manzke H, Lehmann K, Klopocki E, Caliebe A. Eur J Med Genet. 2008;51(5):452-65. |
| Clinodactyly | ||
| rs140430952 rs754214510 rs764401457 | ||
| Chromosome Aberrations Cleft Palate Congenital Hand Deformities Females Fingers Homo sapiens Infant Male Middle Aged Pierre Robin Syndrome Sequence Analysis, DNA Syndrome | ||
| 8 (31.0%) |
927984 |
Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome. Silengo MC, Franceschini P, Cerutti A, Fabris C. Pediatr Radiol. 1977;6(3):178-80. |
| Clinodactyly | ||
| Cleft Palate Fingers Homo sapiens Infant, Newborn Male Micrognathism Syndrome Tongue | ||
| 10 (27.8%) |
6540680 |
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). Brude E. Eur J Pediatr. 1984;142(3):222-3. |
| Pierre-Robin sequence | ||
| Congenital Hand Deformities Females Homo sapiens Infant, Newborn Male Pierre Robin Syndrome X Chromosome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000201 | Pierre-Robin sequence | 2 |
| HP:0030084 | Clinodactyly | 2 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0003510 | Severe short stature | 1 |
| HP:0003771 | Pulp stones | 1 |
| HP:0010109 | Short hallux | 1 |
| HP:0010296 | Ankyloglossia | 1 |
| HP:0010578 | Bracket epiphyses | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|