| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (38.3%) |
10069712 |
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. Milunsky J, Suntra C, MacDonald CB. Am J Med Genet. 1999;82(5):404-8. |
| Falls Broad thumb | ||
| Adult Ankylosis Audiometry Brain Child Females Genotype Homo sapiens Hyperopia Male Phenotype Stapes X-Ray Computed Tomography | ||
| 1 (38.3%) |
9220188 |
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M. Clin Dysmorphol. 1997;6(3):195-203. |
| Congenital stapes ankylosis Broad thumb | ||
| Adult Child Face Females Genes, Dominant Homo sapiens Hyperopia Male Nose Stapes Syndrome | ||
| 3 (35.3%) |
20503332 |
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. Rudnik-Schoneborn S, Takahashi T, Busse S, Schmidt T, Senderek J, Eggermann T, Zerres K. Am J Med Genet A. 2010;152A(6):1540-4. |
| Brachydactyly | ||
| NOG | ||
| c|SUB|C|696|G;RS#:387906844 rs387906844 | ||
| Carrier Proteins Child Craniofacial Abnormalities Growth Disorders Heterozygote Homo sapiens Male Missense Mutation Syndrome Young Adult | ||
| 4 (26.3%) |
2080998 |
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses. Pfeiffer RA, Rott HD, Angerstein W. Genet Couns. 1990;1(2):133-40. |
| Abnormality of the nose | ||
| Adult Cervical Vertebrae Chromosome Aberrations Females Genes, Dominant Homo sapiens Klippel-Feil Syndrome Male | ||
| 5 (23.3%) |
6638061 |
Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. Higashi K, Inoue S. Am J Med Genet. 1983;16(1):105-9. |
| Pectus carinatum | ||
| Adult Bone and Bones Face Fingers Genes, Dominant Homo sapiens Male Syndrome | ||
| 6 (4.0%) |
29130651 |
Further delineation of the GDF6 related multiple synostoses syndrome. Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G. Am J Med Genet A. 2018;176(1):225-229. |
| Otosclerosis | ||
| GDF6 | ||
| c|SUB|C|1287|A c|SUB|T|1330|A p|SUB|S|429|R rs1554571225 | ||
| Child Child, Preschool DNA Mutational Analysis Females Genetic Association Studies Homo sapiens Male Mutation Phenotype | ||
| 6 (4.0%) |
26211601 |
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. Ishino T, Takeno S, Hirakawa K. Eur J Med Genet. 2015;58(9):427-32. |
| Stapes ankylosis | ||
| NOG | ||
| c|SUB|T|682|G p|SUB|C|228|G | ||
| Amino Acid Sequence Asians Carrier Proteins Congenital Foot Deformity Congenital Hand Deformities Females Genetic Association Studies Haploinsufficiency Homo sapiens Male Molecular Sequence Data Mutation Phenotype Protein Conformation Stapes Tarsal Bones Toes | ||
| 6 (4.0%) |
19471170 |
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. Emery SB, Meyer A, Miller L, Lesperance MM. Otol Neurotol. 2009;30(8):1204-8. |
| Otosclerosis | ||
| NOG | ||
| Ankylosis Carrier Proteins DNA Ear Diseases Females Fingers Hearing Loss, Bilateral Homo sapiens Middle Aged Missense Mutation Otosclerosis Phenotype Physical Examination Stapes Syndrome |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0010579 | Cone-shaped epiphysis | Frequent (79-30%) |
| HP:0011304 | Broad thumb | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0001597 | Abnormality of the nail | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000362 | Otosclerosis | 1 |
| HP:0000381 | Stapes ankylosis | 1 |