|
1
|
(HPO:0001878)
|
Hemolytic anemia |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001806)
|
Onycholysis |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0002219)
|
Facial hypertrichosis |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0005586)
|
Hyperpigmentation in sun-exposed areas |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0100324)
|
Scleroderma |
|
|
|
|
6 / 7739
|
|
12
|
(OMIM)
|
Hepatic hemosiderosis |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Liver biopsy shows red autofluorescence and needle-like cytoplasmic inclusion bodies |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Blisters in sun-exposed areas |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Mechanically fragile skin |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Fingernail onycholysis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Reduced liver and red cell uroporphyrinogen decarboxylase |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|