|
1
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0001878)
|
Hemolytic anemia |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
4
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
8
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0100716)
|
Self-injurious behavior |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
13
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
14
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
15
|
(HPO:0000559)
|
Corneal scarring |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0000987)
|
Atypical scarring of skin |
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
|
19
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
20
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
22
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
23
|
(HPO:0002797)
|
Osteolysis |
|
|
|
|
68 / 7739
|
|
24
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
27
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
28
|
(HPO:0010472)
|
Abnormality of the heme biosynthetic pathway |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
30
|
(HPO:0011457)
|
Loss of eyelashes |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0100324)
|
Scleroderma |
|
|
|
|
6 / 7739
|
|
32
|
(OMIM)
|
Red stained teeth (erythrodontia) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Porphyrin-rich gallstones |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Contractures of the fingers |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0100699)
|
Scarring |
|
|
|
|
9 / 7739
|
|
36
|
(OMIM)
|
Mutilating skin deformity |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
38
|
(OMIM)
|
Loss of eyebrows |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Uroporphyrin I and coproporphyrin I are found in plasma, red blood cells, urine, and feces |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Uroporphyrinogen III cosynthase (URO cosynthase) deficiency in blood and fibroblasts |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Pink urine |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|