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Diseases List
A
B
C
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E
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I
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N
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P
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T
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Z
Diagnosis
Omim Number
Sample Count
FABRY DISEASE
301500
11
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
158900
108
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD)
158900
1
FACTOR V DEFICIENCY
227400
2
FACTOR VII DEFICIENCY
227500
1
FACTOR X DEFICIENCY
227600
1
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
175100
43
FAMILIAL CANCER
4
FAMILIAL MULTIPLE CONGENITAL ANOMALIES - UNKNOWN SYNDROME OR INHERITANCE
1
FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED
7
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
607139
12
FANCONI ANEMIA, COMPLEMENTATION GROUP B
1
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
227645
10
FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
605724
1
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
227646
3
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
603467
1
FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
2
FARBER LIPOGRANULOMATOSIS
228000
13
FELINE EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
1
FEMORAL DUPLICATION
1
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
1
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
208150
1
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
135100
3
FIBROMUSCULAR DYSPLASIA OF ARTERIES
135580
29
FRAGILE SITE 10Q25
136620
2
FRAGILE SITE 2Q13
1
FRAGILE X MENTAL RETARDATION SYNDROME
300624
88
FRASER SYNDROME
219000
3
FRIEDREICH ATAXIA 1; FRDA
229300
57
FRONTONASAL DYSPLASIA
136760
1
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
229700
2
FRYNS SYNDROME; FRNS
229850
3
FUCOSIDOSIS
230000
12
FUCOSYLTRANSFERASE 1; FUT1
211100
1
FUMARATE HYDRATASE; FH
136850
1