| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (30.8%) |
1432504 |
Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24]). Moriarty AP, Kerr-Muir MG. J Pediatr Ophthalmol Strabismus. 1992;29(3):177-9. |
| Upslanted palpebral fissure | ||
| Chromosome Deletion Chromosomes, Human, Pair 6 Cornea Homo sapiens Infant Male Sclera | ||
| 2 (4.0%) |
21372519 |
Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p. Izu A, Yanagida H, Sugimoto K, Fujita S, Sakata N, Wada N, Okada M, Takemura T. Tohoku J Exp Med. 2011;223(3):187-92. |
| Proteinuria | ||
| E2F3 | ||
| Biopsy Child Chromosome Deletion Chromosomes, Human, Pair 6 E2F3 Transcription Factor Females Homo sapiens Hydronephrosis Intellectual Disability Kidney Nephrotic Syndrome Renal Insufficiency Vascular Endothelial Growth Factor A | ||
| 2 (4.0%) |
15287921 |
Cytogenetic and hematological spontaneous remission in a case of acute myelogenous leukemia. Fozza C, Bellizzi S, Bonfigli S, Campus PM, Dore F, Longinotti M. Eur J Haematol. 2004;73(3):219-22. |
| Leukemia | ||
| CHP1 | ||
| Adrenal Cortex Hormones Anti-Bacterial Agents Blood Component Transfusion Cytogenetic Analysis Hematologic Tests Homo sapiens Leukemia, Myelocytic, Acute Male Remission, Spontaneous |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0012639 | Abnormality of nervous system morphology | Frequent (79-30%) |
| HP:0030084 | Clinodactyly | Frequent (79-30%) |
| HP:0100790 | Hernia | Frequent (79-30%) |
| HP:0000078 | Abnormality of the genital system | Occasional (29-5%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0001582 | Redundant skin | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000647 | Sclerocornea | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|