| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
27722157 (5043167) |
Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa. Ito T, Ishikawa E, Matsuo H, Fujimoto M, Murata T, Isoda K, Mizutani H, Ito M. Case Rep Nephrol Dial. 2016;6(2):96-100. |
| Squamous cell carcinoma | ||
| 1 (4.0%) |
21182502 |
A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma. Huang L, Wong YP, Burd A. Int J Dermatol. 2011;50(1):52-6. |
| Squamous cell carcinoma | ||
| COL7A1 | ||
| c|SUB|G|IVS64+5|A | ||
| Asians Base Sequence Collagen Type VII Epidermolysis Bullosa Dystrophica Exons Genes, Recessive Homo sapiens Homozygote Male Molecular Sequence Data RNA Splicing Sequence Deletion Skin Skin Neoplasms Squamous Cell Neoplasms Young Adult |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000670 | Carious teeth | Very frequent (99-80%) |
| HP:0000987 | Atypical scarring of skin | Very frequent (99-80%) |
| HP:0000989 | Pruritus | Very frequent (99-80%) |
| HP:0001056 | Milia | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0001802 | Absent toenail | Very frequent (99-80%) |
| HP:0001817 | Absent fingernail | Very frequent (99-80%) |
| HP:0002015 | Dysphagia | Very frequent (99-80%) |
| HP:0002019 | Constipation | Very frequent (99-80%) |
| HP:0002043 | Esophageal stricture | Very frequent (99-80%) |
| HP:0004334 | Dermal atrophy | Very frequent (99-80%) |
| HP:0004378 | Abnormality of the anus | Very frequent (99-80%) |
| HP:0005505 | Refractory anemia | Very frequent (99-80%) |
| HP:0006739 | Squamous cell carcinoma of the skin | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010296 | Ankyloglossia | Very frequent (99-80%) |
| HP:0000498 | Blepharitis | Frequent (79-30%) |
| HP:0000529 | Progressive visual loss | Frequent (79-30%) |
| HP:0000572 | Visual loss | Frequent (79-30%) |
| HP:0000656 | Ectropion | Frequent (79-30%) |
| HP:0000823 | Delayed puberty | Frequent (79-30%) |
| HP:0000938 | Osteopenia | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0001371 | Flexion contracture | Frequent (79-30%) |
| HP:0004057 | Mitten deformity | Frequent (79-30%) |
| HP:0004552 | Scarring alopecia of scalp | Frequent (79-30%) |
| HP:0011457 | Loss of eyelashes | Frequent (79-30%) |
| HP:0200020 | Corneal erosion | Frequent (79-30%) |
| HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%) |
| HP:0003073 | Hypoalbuminemia | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004947 | Arteriovenous fistula | 1 |