Search results for Nitisinone

56 hits were found for Nitisinone

# Family MCID Name MIFTS Score
1
P TYR004 Tyrosinemia 58 0.418
2
ALK013 Alkaptonuria 58 0.404
3
c TYR012 Tyrosinemia, Type I 66 0.309
4
OCH001 Ochronosis 38 0.260
5
48X005 48,xyyy 39 0.252
6
KRT008 Keratopathy 47 0.189
7
P OCL002 Oculocutaneous Albinism 60 0.178
8
ATS010 Autosomal Recessive Disease 48 0.178
9
ALB002 Albinism 46 0.178
10
DWN001 Down Syndrome 70 0.155
11
c RHB024 Rhabdomyosarcoma 2 67 0.141
12
P ART023 Arthropathy 62 0.141
13
CRT017 Cartilage Disease 54 0.141
14
P ART022 Arthritis 69 0.126
15
NPH091 Nephrolithiasis, Calcium Oxalate 60 0.126
16
NPH009 Nephrolithiasis 55 0.126
17
c ALB010 Albinism, Oculocutaneous, Type Ib 54 0.126
18
CYT018 Cytochrome P450 2d6 Variant 27 0.126
19
P MYC007 Myocardial Infarction 70 0.109
20
P LVR013 Liver Disease 68 0.109
21
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.109
22
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.109
23
c GLL024 Gallbladder Disease 1 53 0.109
24
ANK001 Ankylosis 51 0.109
25
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 51 0.109
26
PST092 Posttransplant Acute Limbic Encephalitis 29 0.109
27
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 28 0.109
28
PGM030 Pigmentation Anomaly of the Skin 26 0.109
29
RCK004 Rickets 68 0.089
30
c ACT134 Acute Liver Failure 56 0.089
31
P SPN052 Spondyloarthropathy 54 0.089
32
P LCT001 Lactic Acidosis 51 0.089
33
c INH020 Inherited Metabolic Disorder 47 0.089
34
CHL079 Children's Interstitial Lung Disease 26 0.089
35
DSR026 Disorder of Tyrosine Metabolism 14 0.089
36
P HPT023 Hepatocellular Carcinoma 100 0.063
37
P RSP003 Respiratory Failure 74 0.063
38
P KDN018 Kidney Disease 72 0.063
39
P NRB001 Neuroblastoma 72 0.063
40
OST159 Osteogenic Sarcoma 66 0.063
41
P SKN015 Skin Carcinoma 66 0.063
42
P CNJ013 Conjunctivitis 65 0.063
43
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.063
44
P NTR004 Neutropenia 63 0.063
45
P PRP029 Porphyria 62 0.063
46
c ALB009 Albinism, Oculocutaneous, Type Ia 57 0.063
47
P STR020 Strabismus 55 0.063
48
PTH003 Pathologic Nystagmus 52 0.063
49
NPH003 Nephrocalcinosis 51 0.063
50
c ALB020 Albinism, Oculocutaneous, Type Iii 51 0.063
51
KRT009 Keratosis 51 0.063
52
c ALB019 Albinism, Oculocutaneous, Type Iv 48 0.063
53
MCH006 Mechanical Strabismus 42 0.063
54
c ALB017 Albinism, Oculocutaneous, Type Vi 30 0.063
55
HYP854 Hypopigmentation of the Skin 20 0.063
56
TYR015 Tyrosinosis 20 0.063
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