| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.3%) |
20479301 (3092549) |
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Arch Dermatol. 2010;146(5):529-33. |
| Polyarticular arthritis Erythrodontia | ||
| UROD | ||
| p|SUB|V|166|A |INDEL|645,1053|10 | ||
| Child Diagnostic Errors Females Gene Deletion Genotype Hepatoerythropoietic Porphyria Homo sapiens Missense Mutation Mutagenesis, Insertional Phenotype Sequence Analysis, DNA | ||
| 2 (17.5%) |
8745689 |
[Hepato-erythropoietic porphyria]. Boudghene-Stambouli O, Merad-Boudia A. Ann Dermatol Venereol. 1995;122(9):615-7. |
| Hypertrichosis Scarring | ||
| UROD | ||
| Child, Preschool Erythropoiesis Females Homo sapiens Hypertrichosis | ||
| 2 (17.5%) |
3422855 |
Hepatoerythropoietic porphyria. Bundino S, Topi GC, Zina AM, D'Allessandro Gandolfo L. Pediatr Dermatol. 1987;4(3):229-33. |
| Hypertrichosis Scarring | ||
| UROD | ||
| Child Erythropoiesis Homo sapiens Male | ||
| 4 (4.0%) |
15258814 |
Successful and safe treatment of hypertrichosis by high-intensity pulses of noncoherent light in a patient with hepatoerythropoietic porphyria. Garcia-Bravo M, Lopez-Gomez S, Segurado-Rodriguez MA, Moran-Jimenez MJ, Mendez M, de Salamanca RE, Fontanellas A. Arch Dermatol Res. 2004;296(3):139-40. |
| Hypertrichosis | ||
| Forehead Hepatoerythropoietic Porphyria Homo sapiens Hypertrichosis Light Male Phototherapy | ||
| 4 (4.0%) |
9296199 |
Hepatoerythropoietic porphyria: neuroimaging findings. Berenguer J, Blasco J, Cardenal C, Pujol T, Cruces Prado MJ, Herrero C, Mascaro JM, de la Torre C, Mercader JM. AJNR Am J Neuroradiol. 1997;18(8):1557-60. |
| Frontal cortical atrophy | ||
| Adult Brain Diseases Calcinosis Epilepsy, Frontal Lobe Females Hepatoerythropoietic Porphyria Homo sapiens Male X-Ray Computed Tomography | ||
| 4 (4.0%) |
7971555 |
Neurologic disease in a child with hepatoerythropoietic porphyria. Parsons JL, Sahn EE, Holden KR, Pai GS. Pediatr Dermatol. 1994;11(3):216-21. |
| Hypertrichosis | ||
| UROD | ||
| Brain Diseases Child, Preschool Females Follow-Up Studies Hemiplegia Homo sapiens Magnetic Resonance Imaging Male Porphyria, Erythropoietic Seizures | ||
| 4 (4.0%) |
7902313 |
Hepatoerythropoietic porphyria precipitated by viral hepatitis. Hift RJ, Meissner PN, Todd G. Gut. 1993;34(11):1632-4. |
| Viral hepatitis | ||
| Child, Preschool Family Females Hepatitis A Homo sapiens Porphyria Cutanea Tarda Porphyrins | ||
| 4 (4.0%) |
7369748 |
Hepatoerythropoietic porphyria. Czarnecki DB. Arch Dermatol. 1980;116(3):307-11. |
| Anemia | ||
| Adult Anemia Bone Marrow Diseases Child Child, Preschool Differential Diagnosis Females Genes, Dominant Genes, Recessive Heme Homo sapiens Male Middle Aged Photosensitivity Disorders | ||
| 4 (4.0%) |
1442894 |
Hepatoerythropoietic porphyria in a woman with short stature and deformed hands. Fujimoto A, Brazil JL. Am J Med Genet. 1992;44(4):496-9. |
| Hypertrichosis | ||
| UROD | ||
| Adult Body Height Females Homo sapiens |
Total: 3
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000963 | Thin skin | Very frequent (99-80%) |
| HP:0000992 | Cutaneous photosensitivity | Very frequent (99-80%) |
| HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000998 | Hypertrichosis | 2 |
| HP:0006562 | Viral hepatitis | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0100699 | Scarring | 1 |