| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.8%) |
8404971 |
Ocular involvement in two symptomatic congenital erythropoietic porphyria. Oguz F, Sidal M, Bayram C, Sansoy N, Hekim N. Eur J Pediatr. 1993;152(8):671-3. |
| Blepharitis Scarring | ||
| Blepharitis Child Homo sapiens Male Porphyria, Erythropoietic Scleral Diseases | ||
| 2 (39.3%) |
8024843 |
Congenital erythropoietic porphyria: skeletal manifestations and effect of pamidronate treatment. Oliveri MB, Mautalen C, Mega M, Rossi E. Bone. 1994;15(1):101-4. |
| Osteopenia Erythrodontia | ||
| Adult Bone Density Diphosphonates Females Homo sapiens Osteolysis Osteopetrosis Porphyria, Erythropoietic | ||
| 3 (36.8%) |
31142411 |
Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation. Shirazi N, Chauhan P, Jindal R, Ahmad S. J Coll Physicians Surg Pak. 2019;29(6):S23-S25. |
| Erythrodontia Scarring | ||
| UROS | ||
| Anemia, Hemolytic Biopsy Child Females Hepatomegaly Homo sapiens Intellectual Disability Photosensitivity Disorders Porphyria, Erythropoietic | ||
| 3 (36.8%) |
30706587 |
Congenital erythropoietic porphyria with erythrodontia: A case report. Ciftci V, Klavuz S, Bulut FD, Mungan HN, Bisgin A, Dogan MC. Int J Paediatr Dent. 2019;29(4):542-548. |
| Erythrodontia Scarring | ||
| UROS | ||
| c|SUB|C|10|T;RS#:121908015 p|SUB|L|4|F;RS#:121908015 | ||
| Child Females Homo sapiens Infant Porphyria, Erythropoietic Tooth Discoloration | ||
| 3 (36.8%) |
20932444 |
[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft]. Lebreuilly-Sohyer I, Morice A, Acher A, Dompmartin A, Clement C, de Verneuil H, Ged C, Leroy D, Verneuil L. Ann Dermatol Venereol. 2010;137(10):635-9. |
| Erythrodontia Scarring | ||
| UROS | ||
| p|SUB|C|73|R;RS#:121908012 | ||
| Alleles Bone Marrow Transplantation Differential Diagnosis Females Genetic Carrier Screening Graft-vs-Host Disease Homo sapiens Immunosuppressive Agents Infant Porphyria, Erythropoietic Tooth Discoloration Uroporphyrinogen III Synthetase | ||
| 3 (36.8%) |
7449628 |
[Cholelithiasis in a previously not described case of congenital erythropoietic porphyria (author's transl)]. Feurle GE, Ho AD, Wosiewitz U, Encke A. Dtsch Med Wochenschr. 1980;105(33):1153-6. |
| Erythrodontia Scarring | ||
| Adult Cholelithiasis Erythropoiesis Homo sapiens Hypersplenism Male | ||
| 7 (30.8%) |
18812782 |
Ocular complications in 2 cases with porphyria. Altiparmak UE, Oflu Y, Kocaoglu FA, Katircioglu YA, Duman S. Cornea. 2008;27(9):1093-6. |
| Photophobia Cicatricial ectropion | ||
| Administration, Topical Adult Endophthalmitis Follow-Up Studies Homo sapiens Immunosuppressive Agents Male Middle Aged Necrosis Pain Photophobia Porphyria Cutanea Tarda Porphyria, Erythropoietic Sclera | ||
| 8 (27.8%) |
28899405 (5596485) |
Neonatal hemolytic anemia does not always indicate thalassemia: a case report. Al-Harazi AA, Al-Eryani BM, Al-Sharafi BA. BMC Res Notes. 2017;10(1):476. |
| Hypertrichosis Erythrodontia | ||
| Anemia, Hemolytic Child, Preschool Diagnostic Errors Homo sapiens Infant, Newborn Male Porphyria, Erythropoietic alpha-Thalassemia | ||
| 8 (27.8%) |
24239138 (3963809) |
Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Vet J. 2013;198(3):720-2. |
| Erythrodontia | ||
| c|DEL|107_110|ACAG c|SUB|G|826-1|A p|FS|L|276|E|6 | ||
| Animals Cat Diseases Felis catus Females Florida Hydroxymethylbilane Synthase Molecular Sequence Data Mutation Sequence Analysis, DNA Tennessee Tooth Discoloration | ||
| 8 (27.8%) |
24192686 |
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. Baran M, Eliack K, Kurt I, Kank A, Zengin N, Bakiler AR. Turk J Pediatr. 2013;55(2):218-21. |
| Jaundice Erythrodontia | ||
| UROS | ||
| Epidermolysis Bullosa Females Homo sapiens Infant, Newborn Neonatal Jaundice Phototherapy Porphyria, Erythropoietic Porphyrins |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000987 | Atypical scarring of skin | Very frequent (99-80%) |
| HP:0000992 | Cutaneous photosensitivity | Very frequent (99-80%) |
| HP:0000998 | Hypertrichosis | Very frequent (99-80%) |
| HP:0001155 | Abnormality of the hand | Very frequent (99-80%) |
| HP:0001581 | Recurrent skin infections | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0001760 | Abnormality of the foot | Very frequent (99-80%) |
| HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010472 | Abnormal circulating porphyrin concentration | Very frequent (99-80%) |
| HP:0012086 | Abnormal urinary color | Very frequent (99-80%) |
| HP:0000938 | Osteopenia | Frequent (79-30%) |
| HP:0002721 | Immunodeficiency | Frequent (79-30%) |
| HP:0002757 | Recurrent fractures | Frequent (79-30%) |
| HP:0000495 | Recurrent corneal erosions | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000656 | Ectropion | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001072 | Thickened skin | Occasional (29-5%) |
| HP:0001096 | Keratoconjunctivitis | Occasional (29-5%) |
| HP:0001790 | Nonimmune hydrops fetalis | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0030756 | Erythrodontia | 6 |
| HP:0000992 | Cutaneous photosensitivity | 3 |
| HP:0000998 | Hypertrichosis | 3 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0100532 | Scleritis | 2 |
| HP:0100699 | Scarring | 2 |
| HP:0001056 | Milia | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002563 | Constrictive pericarditis | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002863 | Myelodysplasia | 1 |
| HP:0004870 | Chronic hemolytic anemia | 1 |
| HP:0005984 | Elevated maternal serum alpha-fetoprotein | 1 |
| HP:0012588 | Steroid-resistant nephrotic syndrome | 1 |
| HP:0040318 | Red urine | 1 |