Phenotypes for disease #07013 (GD (Gaucher disease))

190 entries on 2 pages. Showing entries 1 - 100.
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0000325417 pediatric Gaucher disease GD massive splenomegaly, hepatic Gaucheroma; persistent abdominal distension during the previous 18 months; blood exams show anemia, thrombocytopenia, adequate hepato-renal function, normal hemoglobin chain analysis; physical examination, significant abdominal distension underlying massive splenomegaly (the splenic pole reached the low hypogastric region) and hepatomegaly was noted without any other significant symptom: general clinical conditions and neurological examination were in order; development and growth also appeared adequate Familial, autosomal recessive 02y08m - - - Jimena Urbano 00435156
0000329997 Gaucher disease - see paper; ..., no neurologic findings, severity score 5 Familial, autosomal recessive - 6y - - Johan den Dunnen 00440099
0000329998 Gaucher disease - see paper; ..., no neurologic findings, severity score 12 Familial, autosomal recessive - 3y - - Johan den Dunnen 00440100
0000329999 Gaucher disease - see paper; ..., no neurologic findings, severity score 7 Familial, autosomal recessive - 5y - - Johan den Dunnen 00440101
0000330000 Gaucher disease - see paper; ..., no neurologic findings, severity score 15 Familial, autosomal recessive - 13y - - Johan den Dunnen 00440102
0000330001 Gaucher disease - see paper; ..., no neurologic findings, severity score 9 Familial, autosomal recessive - 27y - - Johan den Dunnen 00440103
0000330002 Gaucher disease - see paper; ..., no neurologic findings, severity score 20 Familial, autosomal recessive - 22y - - Johan den Dunnen 00440104
0000330003 Gaucher disease - see paper; ..., no neurologic findings, severity score 9 Familial, autosomal recessive - 19y - - Johan den Dunnen 00440105
0000330004 Gaucher disease - see paper; ..., no neurologic findings, severity score 4 Familial, autosomal recessive - 16y - - Johan den Dunnen 00440106
0000330005 Gaucher disease - see paper; ..., no neurologic findings, severity score 12 Familial, autosomal recessive - 7y - - Johan den Dunnen 00440107
0000330009 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440111
0000330010 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440112
0000330011 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440113
0000330012 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440114
0000330013 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440115
0000330014 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440116
0000330015 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440117
0000330016 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440118
0000330017 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440119
0000330018 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440120
0000330019 Gaucher disease - see paper; ..., hepatosplenomegaly Familial, autosomal recessive 4y6m 2y4m - - Johan den Dunnen 00440121
0000330020 Gaucher disease - see paper; ...,massive hepatosplenomegaly, bony involvement Familial, autosomal recessive 7y 1y - - Johan den Dunnen 00440122
0000330021 Gaucher disease - see paper; ...,hepatosplenomegaly Familial, autosomal recessive 7y 7m - - Johan den Dunnen 00440123
0000330022 Gaucher disease - see paper; ...,splenomegaly Familial, autosomal recessive 20y 18y - - Johan den Dunnen 00440124
0000330023 Gaucher disease - see paper; ...,asymptomatic, mild hepatosplenomegaly Familial, autosomal recessive 17y 17y - - Johan den Dunnen 00440125
0000330024 Gaucher disease - see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease Familial, autosomal recessive - 47y - - Johan den Dunnen 00440126
0000330025 Gaucher disease - see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease Familial, autosomal recessive - 43y - - Johan den Dunnen 00440127
0000330026 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 7 Familial, autosomal recessive 46y - 34y - Johan den Dunnen 00440128
0000330027 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 13 Familial, autosomal recessive 21y - 20m - Johan den Dunnen 00440129
0000330028 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 6 Familial, autosomal recessive 56y - 35y - Johan den Dunnen 00440130
0000330029 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 14 Familial, autosomal recessive 33y - 3m - Johan den Dunnen 00440131
0000330030 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 6 Familial, autosomal recessive 6y - 5y - Johan den Dunnen 00440132
0000330031 Gaucher disease GD1 see paper; ..., no neurologic signs, severity score 4 Familial, autosomal recessive 7y - 7y - Johan den Dunnen 00440133
0000330032 Gaucher disease - see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440134
0000330033 Gaucher disease GD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440135
0000330034 Gaucher disease - see paper; ..., no splenectomy, no bone involvement, severity score 7 Familial, autosomal recessive 1 1y6m - - Johan den Dunnen 00440136
0000330035 Gaucher disease - see paper; ..., no splenectomy, no bone involvement, severity score 7 Familial, autosomal recessive 14y 3y - - Johan den Dunnen 00440137
0000330036 Gaucher disease - see paper; ..., deceased, splenectomy, bone involvement Familial, autosomal recessive 14y 3y - - Johan den Dunnen 00440138
0000330037 Gaucher disease - see paper; ..., deceased, splenectomy, bone involvement Familial, autosomal recessive 14y 7y - - Johan den Dunnen 00440139
0000330038 Gaucher disease - see paper; ..., no splenectomy, bone involvement, severity score 11 Familial, autosomal recessive 8y 1y6m - - Johan den Dunnen 00440140
0000330039 Gaucher disease - see paper; ..., splenectomy, no bone involvement, severity score 15 Familial, autosomal recessive 14y 6y - - Johan den Dunnen 00440141
0000330040 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440142
0000330041 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440143
0000330042 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440144
0000330043 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440145
0000330044 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440146
0000330045 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440147
0000330046 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440148
0000330047 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440149
0000330048 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440150
0000330049 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440151
0000330050 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440152
0000330051 Gaucher disease - - Familial, autosomal recessive - - - - Johan den Dunnen 00440153
0000330052 Gaucher disease GD3 see paper; ... Familial, autosomal recessive 05y - - - Johan den Dunnen 00440154
0000330053 Gaucher disease GD1 see paper; ... Familial, autosomal recessive 11y - - - Johan den Dunnen 00440155
0000330054 Gaucher disease GD1 see paper; ... Familial, autosomal recessive 25y - - - Johan den Dunnen 00440156
0000330055 Gaucher disease GD1 see paper; ... Familial, autosomal recessive 35y - - - Johan den Dunnen 00440157
0000330056 Gaucher disease GD1 see paper; ... Familial, autosomal recessive 45y - - - Johan den Dunnen 00440158
0000330057 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440159
0000330058 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440160
0000330059 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440164
0000330060 Gaucher disease GD1 see paper; ... severe GD1 Familial, autosomal recessive - - - - Johan den Dunnen 00440165
0000330061 Gaucher disease GD1 see paper; ... severe GD1 Familial, autosomal recessive - - - - Johan den Dunnen 00440166
0000330062 Gaucher disease GD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440167
0000330063 Gaucher disease - see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440168
0000330064 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440169
0000330065 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440170
0000330066 Gaucher disease - see pper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440171
0000330067 Gaucher disease - see paper; affected twins deceased 2d/5m Familial, autosomal recessive - - - - Johan den Dunnen 00440172
0000330068 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440173
0000330069 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440174
0000330070 Gaucher disease GD1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440175
0000330071 Gaucher disease GD3 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440176
0000330072 Gaucher disease GD3 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440177
0000330073 Gaucher disease GD1 see paper; ..., mild hepatosplenomegaly, cytopenia, bone involvement Familial, autosomal recessive - 19y - - Johan den Dunnen 00440178
0000330074 Gaucher disease GD1 see paper; ..., mild hepatomegaly, cytopenia; 40y-splenectomy Familial, autosomal recessive 40y 38y - - Johan den Dunnen 00440179
0000330075 Gaucher disease GD1 see paper; ..., 8y-splenectomy; 41y-severe bone involvement, chronic bone pain,massive hepatomegaly Familial, autosomal recessive 41y 8y - - Johan den Dunnen 00440180
0000330076 Gaucher disease GD3 see paper; ..., neuronopathic; hepatosplenomegaly, thrombocytopenia, leukopenia, abdominal pain over area spleen, fatigue, myoclonic epilepsy, and intellectual deterioration since childhood Familial, autosomal recessive 22y - - - Johan den Dunnen 00440181
0000330077 Gaucher disease GD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440182
0000330078 splenomegaly GD1 see paper; ..., 6y6m-splenomegaly, no bone pain, no neurological symptoms; 13y-6m-hypersplenism, left flank pain, spleen large and hard, filling whole left abdomen, splenectomy Familial, autosomal recessive 21y - - - Johan den Dunnen 00440183
0000330079 Gaucher disease - see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440184
0000330080 Gaucher disease GD1 see paper; ..., moderately severe Familial, autosomal recessive - - - - Johan den Dunnen 00440185
0000330081 Gaucher disease GD2 see paper; ..., acute neuronopathic Familial, autosomal recessive - - - - Johan den Dunnen 00440186
0000330082 Gaucher disease GD2 see paper; ..., acute neuronopathic Familial, autosomal recessive - - - - Johan den Dunnen 00440187
0000330083 Gaucher disease GD3 see paper; ..., chronic neuronopathic Familial, autosomal recessive - - - - Johan den Dunnen 00440188
0000330084 Gaucher disease GD3 see paper; ..., chronic neuronopathic Familial, autosomal recessive - - - - Johan den Dunnen 00440189
0000330085 Gaucher disease GD2 see paper; ..., acute neuronopathic Unknown - - - - Johan den Dunnen 00440190
0000330086 Gaucher disease GD1 see paper; ..., non-neuronopathic Unknown - - - - Johan den Dunnen 00440191
0000330087 Gaucher disease GD1 - Familial, autosomal recessive - - - - Johan den Dunnen 00440162
0000330088 Gaucher disease GD1 - Unknown - - - - Johan den Dunnen 00440192
0000330089 Gaucher disease - see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440193
0000330091 Gaucher disease - see paper; ..., moderately severe Gaucher disease Familial, autosomal recessive - - - - Johan den Dunnen 00440195
0000330092 Gaucher disease GD3 see paper; ..., 10y-visceral involvement, seizures and/or mental retardation Familial, autosomal recessive 10y - - - Johan den Dunnen 00440196
0000330093 Gaucher disease GD3 see pape; ... 25y-visceral involvement, seizures and/or mental retardation Familial, autosomal recessive 25y - - - Johan den Dunnen 00440197
0000330094 Gaucher disease GD2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00440198
0000330095 Gaucher disease GD1 splenectomy, severe bone disease Familial, autosomal recessive - - - - Johan den Dunnen 00440200
0000330096 Gaucher disease GD1 splenomegaly, hepatomegaly, mild bone disease Familial, autosomal recessive - - - - Johan den Dunnen 00440201
0000330097 Gaucher disease GD1 splenectomy, severe bone disease, avascular necrosis, bone crises Familial, autosomal recessive - - - - Johan den Dunnen 00440202
0000330098 Gaucher disease GD1 severe bone disease, bone crises, splenomegaly Familial, autosomal recessive - - - - Johan den Dunnen 00440203
0000330099 Gaucher disease GD1 splenectomy, severe bone disease, bone crises, fractures Familial, autosomal recessive - - - - Johan den Dunnen 00440204
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