| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
23552673 |
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S. J Hum Genet. 2013;58(6):391-4. |
| Platyspondyly Micromelia | ||
| INPPL1 | ||
| c|DEL|1960_1962|GAG p|DEL|654|E | ||
| Amino Acid Sequence Asians Child Exome Females Gene Deletion Genetic Heterogeneity Homo sapiens Homozygote Japan Molecular Sequence Data Osteochondrodysplasias Phenotype Phosphatidylinositol-3,4,5-Trisphosphate 5-Phospha... Phosphoric Monoester Hydrolases Sequence Analysis, DNA | ||
| 1 (45.7%) |
20422326 |
Opsismodysplasia. Lewis LE, Ramesh Bhat Y, Naik P, Sethi K, Girisha KM. Indian J Pediatr. 2010;77(5):567-8. |
| Platyspondyly Micromelia | ||
| Differential Diagnosis Females Homo sapiens Infant, Newborn Osteochondrodysplasias | ||
| 3 (32.7%) |
17315533 |
Hypophosphatemic rickets in opsismodysplasia. Zeger MD, Adkins D, Fordham LA, White KE, Schoenau E, Rauch F, Loechner KJ. J Pediatr Endocrinol Metab. 2007;20(1):79-86. |
| Renal phosphate wasting Rickets Metaphyseal irregularity | ||
| FGF23 PHEX | ||
| Child, Preschool Females Fibroblast Growth Factor Homo sapiens Hypophosphatemia Osteochondrodysplasias Rickets | ||
| 4 (26.3%) |
6496568 |
Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae. Maroteaux P, Stanescu V, Stanescu R, Le Marec B, Moraine C, Lejarraga H. Am J Med Genet. 1984;19(1):171-82. |
| Short nose | ||
| Cartilage Congenital Hand Deformities Enchondromatosis Females Homo sapiens Infant, Newborn Male Osteochondrodysplasias | ||
| 5 (23.3%) |
27233067 (4995133) |
Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia. Feist C, Holden P, Fitzgerald J. Clin Dysmorphol. 2016;25(4):152-5. |
| Platyspondyly | ||
| INPPL1 | ||
| c|DEL|1150_1151|GA c|SUB|G|2327-1|C | ||
| Alleles Bone and Bones Family Fetus Genetic Association Studies Heterozygote Homo sapiens Mutation Osteochondrodysplasias Phenotype Phosphatidylinositol-3,4,5-Trisphosphate 5-Phospha... Severity of Illness Index | ||
| 5 (23.3%) |
19050869 |
Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia. Al Kaissi A, Chehida FB, Ghachem MB, Grill F, Klaushofer K. Skeletal Radiol. 2009;38(3):293-6. |
| Os odontoideum | ||
| Child Child, Preschool Homo sapiens Male Osteochondrodysplasias Sibling X-Ray Computed Tomography | ||
| 7 (4.0%) |
9125065 |
Opsismodysplasia: a case report. Zeman J, Baxova A, Houstkova H, Kozlowski K. Australas Radiol. 1997;41(1):35-7. |
| Vascular dilatation | ||
| Cerebral Ventricles Differential Diagnosis Genes, Recessive Homo sapiens Infant Intestinal Pseudo-Obstruction Male Osteochondrodysplasias Vesico-Ureteral Reflux |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000239 | Large fontanelles | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003173 | Hypoplastic pubic bone | Very frequent (99-80%) |
| HP:0003175 | Hypoplastic ischia | Very frequent (99-80%) |
| HP:0003177 | Squared iliac bones | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0008479 | Hypoplastic vertebral bodies | Very frequent (99-80%) |
| HP:0100569 | Abnormally ossified vertebrae | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0005469 | Flat occiput | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000926 | Platyspondyly | 2 |
| HP:0002983 | Micromelia | 2 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0005667 | Os odontoideum | 1 |
| HP:0012444 | Brain atrophy | 1 |