Search results for hscb

27 hits were found for hscb

# Family MCID Name MIFTS Score
1
P MTC133 Mitochondrial Myopathy 51 11.978
2
c ANM036 Anemia, Sideroblastic, 1 56 11.785
3
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52 9.583
4
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45 8.333
5
c HYP840 Hypercholesterolemia, Familial, 4 48 8.333
6
CMB045 Combined Oxidative Phosphorylation Deficiency 19 32 8.333
7
c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 45 8.333
8
P BRD002 Bardet-Biedl Syndrome 66 8.333
9
P SDR003 Sideroblastic Anemia 49 1.863
10
DFC004 Deficiency Anemia 74 1.375
11
ACT098 Acute Erythroid Leukemia 55 1.375
12
P MYP004 Myopathy 67 1.375
13
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.250
14
P FRD001 Friedreich Ataxia 62 1.250
15
c HRD026 Hereditary Ataxia 46 1.250
16
P BRS047 Breast Cancer 97 0.642
17
IRN002 Iron Metabolism Disease 56 0.388
18
ALL014 Allergic Encephalomyelitis 34 0.388
19
P HYD006 Hydrocephalus 62 0.336
20
HMP009 Haemophilus Influenzae 41 0.336
21
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.194
22
P SLP006 Sleep Apnea 69 0.194
23
CNG034 Congestive Heart Failure 69 0.194
24
P HRT032 Heart Disease 84 0.194
25
CNT015 Central Sleep Apnea 46 0.194
26
P MSC003 Muscular Atrophy 52 0.194
27
HYP144 Hyperacusis 23 0.194
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