| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
9215775 |
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. Nishimura G, Harigaya A, Kuwashima M, Kuwashima S. Am J Med Genet. 1997;71(1):87-92. |
| Micrognathia | ||
| Adult Ectodermal Dysplasia Females Growth Disorders Homo sapiens Intellectual Disability Male Short Rib-Polydactyly Syndrome Skin Abnormalities Syndrome | ||
| 2 (54.3%) |
12703033 |
Humeroradial synostosis and the multiple synostosis syndrome: case report. McIntyre JD, Brooks A, Benson MK. J Pediatr Orthop B. 2003;12(3):192-6. |
| Prominent nasal bridge Humeroradial synostosis | ||
| Adult Females Homo sapiens Infant, Newborn Syndrome | ||
| 3 (50.3%) |
11932993 |
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N. Am J Med Genet. 2002;109(1):56-60. |
| Microdontia Cone-shaped epiphysis | ||
| NOG ROR2 SON | ||
| Adult Child Dental Pulp Calcification Females Homo sapiens Male Syndrome Thailand Tooth Abnormalities | ||
| 4 (41.7%) |
17593321 |
A Japanese patient with a mild Lenz-Majewski syndrome. Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura K, Kinoshita A, Kuniba H, Koga Y, Moriuchi H. J Hum Genet. 2007;52(8):686-9. |
| Delayed eruption of permanent teeth Broad clavicles Calvarial hyperostosis | ||
| Asians Bone Diseases, Developmental Cutis Laxa DNA Mutational Analysis Dental Enamel Hypoplasia Homo sapiens Intellectual Disability LDL-Receptor Related Proteins Low Density Lipoprotein Receptor-Related Protein-5 Male Syndrome | ||
| 5 (40.0%) |
18440889 |
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A. Eur J Med Genet. 2008;51(4):351-7. |
| Stapes ankylosis Brachydactyly Broad thumb | ||
| NOG | ||
| p|SUB|P|35|S;RS#:28937580 rs28937580 | ||
| Adult Amino Acid Substitution Animals Ankylosis Carrier Proteins Females Homo sapiens Stapes Syndrome | ||
| 6 (38.3%) |
15699718 |
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. Weekamp HH, Kremer H, Hoefsloot LH, Kuijpers-Jagtman AM, Cruysberg JR, Cremers CW. Otol Neurotol. 2005;26(1):38-51. |
| Hearing impairment Broad thumb | ||
| NOG | ||
| Adult Ankylosis Audiometry, Pure-Tone Bone Conduction Bone Morphogenetic Proteins Carrier Proteins Cephalometry Child Congenital Foot Deformity Congenital Hand Deformities DNA Mutational Analysis Facies Females Genotype Homo sapiens Hyperopia Male Middle Aged Ossicular Replacement Prosthesis Phenotype Reflex, Acoustic Stapes Stapes Mobilization Syndactyly Syndrome X-Ray Computed Tomography | ||
| 6 (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 | ||
| 6 (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 | ||
| 9 (37.5%) |
11169566 |
Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome? Morimoto J, Kaneoka H, Murata T, Sato YN, Ogahara S, Hirose S, Naito S, Naritomi K. Am J Med Genet. 2001;98(3):269-72. |
| Inguinal hernia Brachydactyly Scoliosis | ||
| Adult Face Homo sapiens Kidney Failure, Chronic Male Syndrome | ||
| 10 (35.3%) |
28032038 (5155261) |
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. Leonidou A, Irving M, Holden S, Katchburian M. World J Orthop. 2016;7(12):839-842. |
| Brachydactyly | ||
| GDF5 NOG | ||
| c|SUB|G|1313|T;RS#:74315388 p|SUB|R|438|L;RS#:74315388 | ||
Total: 15
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005048 | Synostosis of carpal bones | Very frequent (99-80%) |
| HP:0008368 | Tarsal synostosis | Very frequent (99-80%) |
| HP:0100264 | Proximal symphalangism | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0003070 | Elbow ankylosis | Frequent (79-30%) |
| HP:0005880 | Metacarpophalangeal synostosis | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0003019 | Abnormality of the wrist | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000381 | Stapes ankylosis | 2 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000366 | Abnormality of the nose | 1 |
| HP:0000426 | Prominent nasal bridge | 1 |
| HP:0000540 | Hypermetropia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002797 | Osteolysis | 1 |
| HP:0003041 | Humeroradial synostosis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0008081 | Pes valgus | 1 |
| HP:0009811 | Abnormality of the elbow | 1 |
| HP:0100774 | Hyperostosis | 1 |