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 26 7.516
2
MTH004 Methylmalonic Aciduria and Homocystinuria Type Cblc 36 7.339
3
P HMC002 Homocystinuria 60 0.345
4
P MTH008 Methylmalonic Acidemia 79 0.185
5
CBL004 Cbld 28 0.130
6
HYP037 Hyperhomocysteinemia 53 0.092
7
THR013 Thoracic Outlet Syndrome 52 0.092
8
P HML001 Hemolytic-Uremic Syndrome 48 0.092
9
SCH016 Schimke Immunoosseous Dysplasia 47 0.092
10
MTH005 Methylmalonic Aciduria and Homocystinuria Type Cblf 47 0.092
11
TTR016 Tetra-Amelia Syndrome 42 0.092
12
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 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 88 0.065
16
ANK002 Ankylosing Spondylitis 77 0.065
17
P ANG001 Angelman Syndrome 70 0.065
18
P MTB001 Metabolic Syndrome X 70 0.065
19
P HYD006 Hydrocephalus 68 0.065
20
DMN002 Dementia 67 0.065
21
MGL001 Megaloblastic Anemia 66 0.065
22
STT001 Status Epilepticus 66 0.065
23
ART019 Aortic Valve Stenosis 64 0.065
24
ACN002 Acanthosis Nigricans 63 0.065
25
DFC004 Deficiency Anemia 63 0.065
26
P ATY010 Atypical Hemolytic-Uremic Syndrome 62 0.065
27
NRP001 Neuropathy 62 0.065
28
EYD002 Eye Disease 59 0.065
29
MYC002 Mycobacterium Avium Complex Disease 59 0.065
30
P SPR013 Spiradenoma 56 0.065
31
RTN023 Retinitis 54 0.065
32
MCR010 Microcephaly 53 0.065
33
P SZR006 Seizure Disorder 51 0.065
34
c OPT004 Optic Atrophy 50 0.065
35
EPL002 Epilepsy Syndrome 46 0.065
36
CRP018 Cor Pulmonale 45 0.065
37
NRN002 Neuronitis 44 0.065
38
P ATX010 Ataxia Neuropathy Spectrum 43 0.065
39
c ADR022 Adrenomyeloneuropathy 40 0.065
40
ADS002 Adie Syndrome 35 0.065
41
P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 34 0.065
42
NTR005 Nutritional Deficiency Disease 33 0.065
43
TFT003 Tufting Enteropathy 28 0.065
44
HNM002 Hinman Syndrome 28 0.065
45
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.065
46
CBL006 Cblf 27 0.065
47
AMN002 Amino Acid Metabolic Disorder 27 0.065
48
CBL007 Cblg 25 0.065
49
HMC024 Homocystinuria, Cbld Type, Variant 1 23 0.065
50
AND005 Androgen Insensitivity Syndrome, Mild 21 0.065
51
P OCL041 Oculomotor Apraxia Cogan Type 20 0.065
52
MTH021 Methylmalonic Acidemia with Homocystinuria 15 0.065
53
c MTH034 Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Complementation Type 15 0.065