| Disease Name |
Symbol |
Acronym |
| 1,4-Phenylenediamine Allergic Contact Dermatitis |
14P001 |
|
| 10q22.3q23 Microdeletion Syndrome |
10Q003 |
|
| 10q22.3q23.3 Microduplication Syndrome |
10Q002 |
|
| 10q26 Deletion Syndrome |
10Q004 |
|
| 11p15.4 Microduplication Syndrome |
11P002 |
|
| 11q22.2q22.3 Microdeletion Syndrome |
11Q001 |
|
| 12q14 Microdeletion Syndrome |
12Q002 |
|
| 12q15q21.1 Microdeletion Syndrome |
12Q001 |
|
| 13q12.3 Microdeletion Syndrome |
13Q001 |
|
| 14q11.2 Microduplication Syndrome |
14Q003 |
|
| 14q12 Microdeletion Syndrome |
14Q001 |
|
| 14q24.1q24.3 Microdeletion Syndrome |
14Q005 |
|
| 15q Duplication Syndrome and Related Disorders |
15Q008 |
|
| 15q13.3 Microduplication Syndrome |
15Q006 |
|
| 16p11.2 Deletion Syndrome |
16P002 |
|
| 16p11.2 Duplication |
16P008 |
|
| 16p11.2 Recurrent Microdeletion |
16P010 |
|
| 16p11.2p12.2 Microduplication Syndrome |
16P005 |
|
| 16p12.1p12.3 Triplication Syndrome |
16P011 |
|
| 16p12.2 Microdeletion |
16P009 |
|
| 16p12.2 Recurrent Deletion |
16P013 |
|
| 16p13.11 Microdeletion Syndrome |
16P003 |
|
| 16p13.11 Microduplication Syndrome |
16P004 |
|
| 16q24.1 Microdeletion Syndrome |
16Q002 |
|
| 16q24.3 Microdeletion Syndrome |
16Q001 |
|
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
17B003 |
MPH |
| 17q12 Recurrent Deletion Syndrome |
17Q009 |
|
| 17q12 Recurrent Duplication |
17Q008 |
|
| 17q24.2 Microdeletion Syndrome |
17Q012 |
|
| 18p Deletion Syndrome |
18P001 |
|
| 19p13.12 Microdeletion Syndrome |
19P001 |
|
| 19p13.13 Deletion Syndrome |
19P004 |
|
| 1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis |
1CH001 |
|
| 1p21.3 Microdeletion Syndrome |
1P2001 |
|
| 1p35.2 Microdeletion Syndrome |
1P3003 |
|
| 1q Duplications |
1QD001 |
|
| 1q21.1 Recurrent Microdeletion |
1Q2003 |
|
| 1q44 Microdeletion Syndrome |
1Q4001 |
|
| 2,4-Dienoyl-Coa Reductase Deficiency |
24D001 |
DECRD |
| 2,4-Dinitrophenyl Allergic Contact Dermatitis |
24D002 |
|
| 2019 Novel Coronavirus |
201001 |
|
| 20p12.3 Microdeletion Syndrome |
20P001 |
|
| 20p13 Microdeletion Syndrome |
20P002 |
|
| 20q11.2 Microdeletion Syndrome |
20Q003 |
|
| 20q11.2 Microduplication Syndrome |
20Q002 |
|
| 20q13.33 Microdeletion Syndrome |
20Q001 |
|
| 21q22.11q22.12 Microdeletion Syndrome |
21Q001 |
|
| 2-Aminoadipic 2-Oxoadipic Aciduria |
2MN001 |
AMOXAD |
| 2-Hydroxyethyl Methacrylate Sensitization |
2HY002 |
|
| 2-Hydroxyglutaric Aciduria |
2HY001 |
2-HGA |
| 2-Methyl-3-Hydroxybutyric Aciduria |
2MT001 |
|
| 2-Methylacetoacetyl Coa Thiolase Deficiency |
2MT002 |
|
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
2MT003 |
SBCADD |
| 2p13.2 Microdeletion Syndrome |
2P1003 |
|
| 2p21 Microdeletion Syndrome Without Cystinuria |
2P2002 |
|
| 2q31.1 Microdeletion Syndrome |
2Q3005 |
|
| 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency |
3LP002 |
|
| 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
3BT001 |
|
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
3HY007 |
HMGCLD |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
3HY011 |
HMGCS2D |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
3HY005 |
HADH DEFICIENCY |
| 3-Hydroxyisobutyric Aciduria |
3HY001 |
|
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
3HY010 |
HIBCHD |
| 3mc Syndrome |
3MC003 |
|
| 3mc Syndrome 1 |
3MC002 |
3MC1 |
| 3mc Syndrome 2 |
3MC001 |
3MC2 |
| 3mc Syndrome 3 |
3MC004 |
3MC3 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
3MT011 |
MCC1D |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
3MT008 |
MCC2D |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
3MT001 |
3MCC |
| 3-Methylglutaconic Aciduria |
3MT007 |
|
| 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome |
3MT013 |
MEGDEL |
| 3-Methylglutaconic Aciduria, Type I |
3MT015 |
MGCA1 |
| 3-Methylglutaconic Aciduria, Type Iii |
3MT016 |
MGCA3 |
| 3-Methylglutaconic Aciduria, Type Iv |
3MT019 |
MGCA4 |
| 3-Methylglutaconic Aciduria, Type Ix |
3MT023 |
MGCA9 |
| 3-Methylglutaconic Aciduria, Type V |
3MT014 |
MGCA5 |
| 3-Methylglutaconic Aciduria, Type Vii |
3MT024 |
MGCA7 |
| 3-Methylglutaconic Aciduria, Type Viii |
3MT021 |
MGCA8 |
| 3p Deletion Syndrome |
3PD001 |
|
| 3p25.3 Microdeletion Syndrome |
3P2001 |
|
| 3q26 Microduplication Syndrome |
3Q2004 |
|
| 3q26q27 Microdeletion Syndrome |
3Q2005 |
|
| 3q27.3 Microdeletion Syndrome |
3Q2006 |
|
| 3q29 Recurrent Deletion |
3Q2007 |
|
| 45,x/46,xy Mixed Gonadal Dysgenesis |
45X001 |
|
| 46 Xx Gonadal Dysgenesis |
46X002 |
|
| 46 Xy Gonadal Dysgenesis |
46X001 |
|
| 46, Xy Disorders of Sexual Development |
46X011 |
|
| 46,xx Disorder of Gonadal Development |
46X067 |
|
| 46,xx Disorder of Sex Development |
46X060 |
|
| 46,xx Disorder of Sex Development Induced by Androgens Excess |
46X078 |
|
| 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen |
46X069 |
|
| 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen |
46X068 |
|
| 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess |
46X075 |
|
| 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess |
46X070 |
|
| 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen |
46X076 |
|
| 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome |
46X040 |
|
| 46,xx Gonadal Dysgenesis Epibulbar Dermoid |
46X005 |
|
| 46,xx Sex Reversal 1 |
46X052 |
SRXX1 |
| 46,xx Sex Reversal 2 |
46X048 |
SRXX2 |
| 46,xx Sex Reversal 3 |
46X050 |
SRXX3 |
| 46,xx Sex Reversal 4 |
46X059 |
SRXX4 |
| 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs |
46X054 |
SERKAL |
| 46,xy Disorder of Gonadal Development |
46X065 |
|
| 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect |
46X062 |
|
| 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue |
46X077 |
|
| 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect |
46X074 |
|
| 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect |
46X073 |
|
| 46,xy Disorder of Sex Development Due to Impaired Androgen Production |
46X063 |
|
| 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect |
46X072 |
|
| 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
46X064 |
|
| 46,xy Disorder of Sex Development of Endocrine Origin |
46X066 |
|
| 46,xy Disorder of Sex Development of Gynecological Interest |
46X061 |
|
| 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
46X071 |
|
| 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy |
46X053 |
PGD |
| 46,xy Ovotesticular Disorder of Sex Development |
46X015 |
|
| 46,xy Partial Gonadal Dysgenesis |
46X012 |
|
| 46,xy Sex Reversal 1 |
46X051 |
SRXY1 |
| 46,xy Sex Reversal 10 |
46X058 |
SRXY10 |
| 46,xy Sex Reversal 2 |
46X049 |
SRXY2 |
| 46,xy Sex Reversal 3 |
46X055 |
SRXY3 |
| 46,xy Sex Reversal 4 |
46X046 |
SRXY4 |
| 46,xy Sex Reversal 5 |
46X056 |
SRXY5 |
| 46,xy Sex Reversal 6 |
46X017 |
SRXY6 |
| 46,xy Sex Reversal 7 |
46X047 |
SRXY7 |
| 46,xy Sex Reversal 8 |
46X057 |
SRXY8 |
| 46,xy Sex Reversal 9 |
46X030 |
SRXY9 |
| 47, Xxy |
47X003 |
|
| 47,xyy |
47X002 |
|
| 48, Xxxx |
48X001 |
|
| 48,xxxy Syndrome |
48X002 |
|
| 48,xxyy Syndrome |
48X003 |
|
| 48,xyyy |
48X005 |
|
| 49, Xxxxx |
49X001 |
|
| 49, Xxxxy Syndrome |
49X006 |
|
| 49, Xxxyy Syndrome |
49X005 |
|
| 49,xyyyy Syndrome |
49X004 |
|
| 4-Hydroxyphenylacetic Aciduria |
4HY001 |
|
| 4p16.3 Microduplication Syndrome |
4P1001 |
|
| 4q25 Proximal Deletion Syndrome |
4Q2002 |
|
| 4-Tert-Butylphenol Allergic Contact Dermatitis |
4TR001 |
|
| 4-Vinylcyclohexene Dioxide Respiratory Allergy |
4VN001 |
|
| 5-Fluorouracil Poisoning |
5FL002 |
|
| 5-Nucleotidase Syndrome |
5NC001 |
|
| 5-Oxoprolinase Deficiency |
5XP001 |
OPLAHD |
| 5q31.3 Microdeletion Syndrome |
5Q3002 |
|
| 5q35 Microduplication Syndrome |
5Q3001 |
|
| 6p22 Microdeletion Syndrome |
6P2001 |
|
| 6-Phosphogluconate Dehydrogenase Deficiency |
6PH001 |
|
| 6-Phosphogluconolactonase Deficiency |
6PH002 |
|
| 6q Terminal Deletion Syndrome |
6QT002 |
|
| 6q16 Microdeletion Syndrome |
6Q1002 |
|
| 7p22.1 Microduplication Syndrome |
7P2001 |
|
| 7q11.23 Duplication Syndrome |
7Q1002 |
|
| 7q31 Microdeletion Syndrome |
7Q3001 |
|
| 8p Inverted Duplication/deletion Syndrome |
8PN001 |
|
| 8p11 Myeloproliferative Syndrome |
8P1002 |
|
| 8p11.2 Deletion Syndrome |
8P1001 |
|
| 8p23.1 Duplication Syndrome |
8P2002 |
|
| 8q12 Microduplication Syndrome |
8Q1001 |
|
| 9p13 Microdeletion Syndrome |
9P1001 |
|
| 9q21.13 Microdeletion Syndrome |
9Q2003 |
|
| 9q22.3 Microdeletion |
9Q2001 |
|
| 9q31.1q31.3 Microdeletion Syndrome |
9Q3001 |
|
| 9q33.3q34.11 Microdeletion Syndrome |
9Q3002 |
|
