| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (23.3%) |
20503311 |
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD. Am J Med Genet A. 2010;152A(6):1378-82. |
| Scoliosis | ||
| DLL3 HES7 LFNG MESP2 | ||
| rs587777113 | ||
| Adult Basic Helix-Loop-Helix Transcription Factors Child DNA Mutational Analysis Dysostoses Homo sapiens Intracellular Signaling Peptides and Proteins Male Membrane Proteins |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0003422 | Vertebral segmentation defect | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0000269 | Prominent occiput | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0010306 | Short thorax | Frequent (79-30%) |
| HP:0000008 | Abnormality of female internal genitalia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000913 | Posterior rib fusion | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0005107 | Abnormal sacrum morphology | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|