Search results for por

Showing 25 of 1,176 hits for por
# Family MCID Name MIFTS Score
1
DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40 88.410
2
ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 36 53.217
3
CYT014 Cytochrome P450 Oxidoreductase Deficiency 40 52.199
4
ANT003 Antley-Bixler Syndrome 52 20.141
5
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 18.515
6
P CRN037 Craniosynostosis 66 14.051
7
PRM013 Premature Menopause 58 13.322
8
CNN003 Conn's Syndrome 83 12.342
9
SYN005 Synostosis 44 11.577
10
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 48 10.580
11
OST015 Osteochondrodysplasia 60 10.457
12
P DSR090 Disorder of Sexual Development 53 10.213
13
c ART144 Arthrogryposis, Distal, Type 1a 65 9.923
14
GYN001 Gynecomastia 47 9.923
15
ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 33 9.720
16
AND020 Androgen Insensitivity, Partial 57 7.498
17
CRT039 Corticosterone Methyloxidase Type I Deficiency 48 7.150
18
CMP034 Complete Androgen Insensitivity Syndrome 55 7.150
19
P RDL002 Radioulnar Synostosis 40 7.111
20
HMR015 Humeroradial Synostosis 35 7.017
21
DRM021 Dermatopathia Pigmentosa Reticularis 44 7.017
22
c 46X082 46,xy Sex Reversal 50 7.017
23
c MYP098 Myopathy, Centronuclear, 4 34 7.017
24
c PRX045 Peroxisome Biogenesis Disorder 1b 65 7.017
25
STR018 Steroid Inherited Metabolic Disorder 30 7.017
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