| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
28328141 |
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. Kohmoto T, Naruto T, Watanabe M, Fujita Y, Ujiro S, Okamoto N, Horikawa H, Masuda K, Imoto I. Am J Med Genet A. 2017;173(4):1082-1086. |
| Mesomelia | ||
| SLCO5A1 SULF1 | ||
| Asians Base Sequence Child Chromosomes, Human, Pair 8 DNA Copy Number Variations Females Genes, Dominant High-Throughput Nucleotide Sequencing Homo sapiens Homologous Recombination Limb Deformities, Congenital Organic Anion Transporters Sequence Deletion | ||
| 2 (31.0%) |
6254701 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). Pfeiffer RA. Clin Genet. 1980;18(2):142-6. |
| Syndactyly | ||
| Child Chondroma Chromosome Deletion Chromosomes, Human, 6-12 and X Homo sapiens Intellectual Disability Male Syndactyly Syndrome | ||
| 3 (21.2%) |
19725128 |
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A. Am J Med Genet A. 2009;149A(10):2220-5. |
| Hypertelorism Skeletal dysplasia | ||
| FLNB | ||
| Acrocephalosyndactylia Adult Child Child, Preschool Disease Progression Females Follow-Up Studies Homo sapiens Male Middle Aged Syndrome |
Total: 41
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0001155 | Abnormality of the hand | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001440 | Metatarsal synostosis | Very frequent (99-80%) |
| HP:0001760 | Abnormality of the foot | Very frequent (99-80%) |
| HP:0001773 | Short foot | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002705 | High, narrow palate | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0002992 | Abnormality of tibia morphology | Very frequent (99-80%) |
| HP:0003019 | Abnormality of the wrist | Very frequent (99-80%) |
| HP:0003027 | Mesomelia | Very frequent (99-80%) |
| HP:0003063 | Abnormality of the humerus | Very frequent (99-80%) |
| HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005048 | Synostosis of carpal bones | Very frequent (99-80%) |
| HP:0009465 | Ulnar deviation of finger | Very frequent (99-80%) |
| HP:0010293 | Aplasia/Hypoplasia of the uvula | Very frequent (99-80%) |
| HP:0100240 | Synostosis of joints | Very frequent (99-80%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000190 | Abnormal oral frenulum morphology | Occasional (29-5%) |
| HP:0000272 | Malar flattening | Occasional (29-5%) |
| HP:0000325 | Triangular face | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000414 | Bulbous nose | Occasional (29-5%) |
| HP:0000444 | Convex nasal ridge | Occasional (29-5%) |
| HP:0000534 | Abnormal eyebrow morphology | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0002815 | Abnormality of the knee | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0003028 | Abnormality of the ankles | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|