|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0100495)
|
Mastocytosis |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0100585)
|
Telangiectasia of the skin |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
|
6
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
7
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
8
|
(HPO:0001695)
|
Cardiac arrest |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
9
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0001025)
|
Urticaria |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0007583)
|
Telangiectasia macularis eruptiva perstans |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
14
|
(OMIM)
|
Hyperpigmented macules or papules showing erythema or edema on trauma |
|
|
|
|
2 / 7739
|
|
15
|
(MedDRA:10046752)
|
Urticaria pigmentosa |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Cutaneous mastocytosis |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Bullous mastocytosis |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
19
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
20
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0200151)
|
Cutaneous mastocytosis |
|
|
|
|
2 / 7739
|