Search results for disordered steroidogenesis

96 hits were found for disordered steroidogenesis

# Family MCID Name MIFTS Score
1
DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31 6.959
2
ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 32 5.886
3
ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37 4.502
4
CYT014 Cytochrome P450 Oxidoreductase Deficiency 25 3.843
5
c BRT052 Bartter Syndrome, Type 1, Antenatal 29 2.222
6
c BLD140 Blood Group, I System 37 0.183
7
P PLY011 Polycystic Ovary Syndrome 65 0.156
8
INS024 Insulin-Like Growth Factor I 83 0.152
9
AGN016 Aging 65 0.152
10
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.140
11
ADR004 Adrenal Cortical Adenocarcinoma 47 0.139
12
P PRS040 Prostate Cancer 88 0.134
13
P THY032 Thyroiditis 56 0.127
14
PRS047 Prostatitis 59 0.127
15
ANT003 Antley-Bixler Syndrome 50 0.125
16
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.118
17
ADN018 Adenoma 63 0.116
18
P LKM002 Leukemia 75 0.108
19
P INF032 Infertility 59 0.105
20
P ANR048 Aniridia 1 68 0.104
21
HYP043 Hyperandrogenism 50 0.104
22
ANR038 Anorexia Nervosa 1 21 0.104
23
BLD137 Blood Group--Ahonen 17 0.104
24
HYP080 Hypogonadism 54 0.100
25
CNN003 Conn's Syndrome 70 0.096
26
P EPL164 Epilepsy 70 0.095
27
CRB009 Cerebritis 41 0.090
28
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.086
29
HPT082 Hepatic Adenomas, Familial 52 0.082
30
SXD001 Sex Differentiation Disease 37 0.081
31
ALR002 Al-Raqad Syndrome 30 0.081
32
P ALZ034 Alzheimer Disease 95 0.080
33
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 29 0.076
34
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.070
35
P CRN037 Craniosynostosis 68 0.070
36
ARM001 Aromatase Deficiency 52 0.068
37
DPH019 Diaphanospondylodysostosis 39 0.068
38
CYT018 Cytochrome P450 2d6 Variant 13 0.068
39
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.067
40
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.067
41
SYN005 Synostosis 50 0.065
42
P RNG031 Ring Chromosome Y Syndrome 29 0.065
43
CNS013 Constricting Bands, Congenital 28 0.063
44
P LYD001 Leydig Cell Tumor 47 0.062
45
P ESP024 Esophagitis 64 0.062
46
P MYP006 Myopia 56 0.062
47
ALD013 Aldosterone-Producing Adenoma 39 0.061
48
P BRS047 Breast Cancer 100 0.061
49
ISC004 Ischemia 66 0.061
50
AMN001 Amenorrhea 55 0.061
51
GLC008 Glucose Metabolism Disease 38 0.060
52
HYP730 Hypogonadotropic Hypogonadism 56 0.058
53
P TRN020 Turner Syndrome 69 0.057
54
GND003 Gonadal Disease 32 0.057
55
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.056
56
THR013 Thoracic Outlet Syndrome 50 0.056
57
P CHR084 Chromosomal Disease 40 0.056
58
SRC014 Sarcoma 68 0.055
59
P CHR342 Chiari Malformation 45 0.055
60
P HYP607 Hypercholesterolemia, Familial 81 0.054
61
HYP064 Hypogonadotropism 38 0.054
62
P END044 Endometriosis 71 0.053
63
HYP005 Hypokalemia 53 0.053
64
P CNN004 Connective Tissue Cancer 35 0.052
65
SFT003 Soft Tissue Sarcoma 58 0.052
66
BNF002 Bone Fracture 56 0.052
67
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52 0.052
68
c PRM196 Premature Ovarian Failure 1 68 0.052
69
c MLG074 Malignant Mesenchymoma 51 0.052
70
ANV001 Anovulation 48 0.051
71
GNT050 Genitourinary Tract Anomalies 41 0.051
72
TRN015 Transient Cerebral Ischemia 58 0.051
73
OST159 Osteogenic Sarcoma 70 0.050
74
BNC003 Bone Cancer 59 0.050
75
CHR178 Chromosomal Triplication 35 0.050
76
ESP020 Esophageal Atresia 54 0.049
77
BNS001 Bone Osteosarcoma 38 0.049
78
FTL009 Fetal Akinesia Deformation Sequence 54 0.049
79
P MRD002 Marden-Walker Syndrome 47 0.049
80
47X003 47, Xxy 33 0.049
81
BLD138 Blood Group--Diego System 18 0.049
82
OVR029 Ovarian Hyperstimulation Syndrome 64 0.048
83
BRR014 Barrett Esophagus 64 0.048
84
HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40 0.048
85
c BRT050 Bartter Syndrome, Type 2, Antenatal 43 0.047
86
ANS023 Anus, Imperforate 50 0.046
87
LTM002 Luteoma 32 0.046
88
AZS001 Azoospermia 47 0.045
89
46X049 46,xy Sex Reversal 2 23 0.045
90
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 56 0.044
91
P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54 0.044
92
P RDL002 Radioulnar Synostosis 46 0.044
93
ORC001 Orchitis 34 0.044
94
ADR001 Adrenal Rest Tumor 33 0.044
95
PPL052 Papillomatosis, Confluent and Reticulated 26 0.044
96
RMR001 Ramer Ladda Syndrome 24 0.044
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