|
1
|
(HPO:0001409)
|
Portal hypertension |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
4
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
8
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
13
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
17
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
|
18
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
19
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
20
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
21
|
(OMIM)
|
Fibrosis without fatty infiltration or ductular proliferation |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Mild diffuse ichthyosis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Orthokeratosis |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Papillomatosis |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Granular layer hyperplasia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Intracytoplasmic vacuoles in basal keratinocytes (with negative oil red O-staining) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Split anchoring plaques of desmosomes in the granular layer (transmission electron microscopy (TEM)) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Short dystrophic, thick hair |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Cicatricial frontoparietal alopecia |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Loss of the outer third of the eyebrows |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Intracytoplasmic vacuoles in eosinophils, neutrophils and lymphocytes |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
34
|
(HPO:0030151)
|
Cholangitis |
|
|
|
|
10 / 7739
|
|
35
|
(HPO:0040162)
|
Orthokeratosis |
|
|
|
|
4 / 7739
|