Search results for cps1

56 hits were found for cps1

# Family MCID Name MIFTS Score
1
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52 16.752
2
PLM124 Pulmonary Hypertension, Neonatal 19 5.479
3
P PLM037 Pulmonary Hypertension 67 4.361
4
URC002 Urea Cycle Disorder 51 3.048
5
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 59 2.758
6
MCN007 Meconium Aspiration Syndrome 55 2.758
7
ISV001 Isovaleric Acidemia 55 2.758
8
ORT008 Orotic Aciduria 55 2.758
9
P SML016 Small Intestine Cancer 50 2.758
10
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 2.441
11
PRP001 Propionic Acidemia 65 1.950
12
CTR172 Citrullinemia, Classic 64 1.950
13
ARG002 Argininosuccinic Aciduria 61 1.950
14
ARG007 Argininemia 57 1.950
15
P CTR177 Citrullinemia, Type Ii, Adult-Onset 57 1.950
16
c SML009 Small Intestine Adenocarcinoma 57 1.950
17
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55 1.950
18
P MTH008 Methylmalonic Acidemia 50 1.950
19
c MCR137 Microphthalmia, Isolated 2 44 1.950
20
c MCR114 Microphthalmia, Isolated 3 42 1.950
21
FLM001 Filamentary Keratitis 29 1.950
22
c DFN186 Deafness, Y-Linked 1 26 1.950
23
OCL069 Ocular Motor Apraxia 51 0.158
24
NCT003 N-Acetylglutamate Synthase Deficiency 45 0.158
25
P HPT023 Hepatocellular Carcinoma 100 0.100
26
P LNG032 Lung Cancer 98 0.100
27
P LNG064 Lung Cancer Susceptibility 3 78 0.100
28
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.100
29
P ADN016 Adenocarcinoma 64 0.100
30
ATS010 Autosomal Recessive Disease 48 0.100
31
P CLR023 Colorectal Cancer 99 0.071
32
NRL016 Neural Tube Defects 82 0.071
33
GLB015 Glioblastoma Multiforme 75 0.071
34
P RSP003 Respiratory Failure 74 0.071
35
SVR004 Severe Combined Immunodeficiency 73 0.071
36
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.071
37
P MJR001 Major Depressive Disorder 68 0.071
38
LNG039 Lung Squamous Cell Carcinoma 66 0.071
39
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.071
40
DPR016 Depression 63 0.071
41
LPD008 Lipid Metabolism Disorder 62 0.071
42
c HPT001 Hepatitis C 62 0.071
43
LPP008 Lipoprotein Quantitative Trait Locus 62 0.071
44
ALL026 Allergic Hypersensitivity Disease 62 0.071
45
BRS099 Breast Ductal Carcinoma 62 0.071
46
P LKD001 Leukodystrophy 59 0.071
47
CCC001 Coccidioidomycosis 58 0.071
48
MNT002 Mental Depression 58 0.071
49
HMC014 Homocysteinemia 53 0.071
50
P RCT021 Rectum Cancer 52 0.071
51
ART140 Arteries, Anomalies of 52 0.071
52
c TRC092 Trichorhinophalangeal Syndrome, Type I 52 0.071
53
MNN009 Meningoencephalitis 49 0.071
54
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 0.071
55
ORG002 Organic Acidemia 44 0.071
56
CYT002 Cytokine Deficiency 42 0.071
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