Search results for "cblc"

The MalaCard for "cblc" has been retired.
Searching MalaCards for entries containing "cblc"

53 hits were found for 'cblc'

# Family MCID Name MIFTS Score
1
MTH052 Methylmalonic Acidemia and Homocystinuria Cblc Type 30 7.516
2
MTH004 Methylmalonic Aciduria and Homocystinuria Type Cblc 36 7.339
3
P HMC002 Homocystinuria 59 0.345
4
P MTH008 Methylmalonic Acidemia 79 0.185
5
CBL004 Cbld 27 0.130
6
THR013 Thoracic Outlet Syndrome 52 0.092
7
HYP037 Hyperhomocysteinemia 52 0.092
8
SCH016 Schimke Immunoosseous Dysplasia 48 0.092
9
P HML001 Hemolytic-Uremic Syndrome 47 0.092
10
MTH005 Methylmalonic Aciduria and Homocystinuria Type Cblf 47 0.092
11
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.092
12
TTR016 Tetra-Amelia Syndrome 43 0.092
13
SYN053 Syndromic Diarrhea 34 0.092
14
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 19 0.092
15
P DLT002 Dilated Cardiomyopathy 87 0.065
16
ANK002 Ankylosing Spondylitis 76 0.065
17
P ANG001 Angelman Syndrome 71 0.065
18
P MTB001 Metabolic Syndrome X 69 0.065
19
P HYD006 Hydrocephalus 69 0.065
20
DMN002 Dementia 66 0.065
21
MGL001 Megaloblastic Anemia 65 0.065
22
STT001 Status Epilepticus 65 0.065
23
P ATY010 Atypical Hemolytic-Uremic Syndrome 65 0.065
24
ACN002 Acanthosis Nigricans 64 0.065
25
ART019 Aortic Valve Stenosis 63 0.065
26
DFC004 Deficiency Anemia 62 0.065
27
NRP001 Neuropathy 61 0.065
28
EYD002 Eye Disease 58 0.065
29
MYC002 Mycobacterium Avium Complex Disease 58 0.065
30
c MCR010 Microcephaly 56 0.065
31
P SPR013 Spiradenoma 55 0.065
32
RTN023 Retinitis 53 0.065
33
P SZR006 Seizure Disorder 50 0.065
34
c OPT004 Optic Atrophy 49 0.065
35
P ATX010 Ataxia Neuropathy Spectrum 47 0.065
36
EPL002 Epilepsy Syndrome 45 0.065
37
CRP018 Cor Pulmonale 44 0.065
38
NRN002 Neuronitis 43 0.065
39
c ADR022 Adrenomyeloneuropathy 39 0.065
40
P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 35 0.065
41
ADS002 Adie Syndrome 35 0.065
42
NTR005 Nutritional Deficiency Disease 33 0.065
43
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.065
44
HNM002 Hinman Syndrome 28 0.065
45
TFT003 Tufting Enteropathy 28 0.065
46
CBL006 Cblf 27 0.065
47
AMN002 Amino Acid Metabolic Disorder 26 0.065
48
CBL007 Cblg 25 0.065
49
HMC024 Homocystinuria, Cbld Type, Variant 1 24 0.065
50
AND005 Androgen Insensitivity Syndrome, Mild 21 0.065
51
P OCL041 Oculomotor Apraxia Cogan Type 20 0.065
52
c MTH034 Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 18 0.065
53
MTH021 Methylmalonic Acidemia with Homocystinuria 16 0.065