| Disease Name |
Symbol |
Acronym |
| 1,4-Phenylenediamine Allergic Contact Dermatitis
|
14P001
|
|
| 10q22.3q23 Microdeletion Syndrome
|
10Q003
|
|
| 10q22.3q23.3 Microduplication Syndrome
|
10Q002
|
|
| 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 Deletion Syndrome
|
17Q010
|
|
| 17q12 Duplication
|
17Q011
|
|
| 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
|
|
| 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
|
|
| 2q37 Deletion Syndrome
|
2Q3001
|
|
| 3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency
|
3LP001
|
|
| 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 Cataracts, Neurologic Involvement, and Neutropenia
|
3MT022
|
MEGCANN
|
| 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 Viii
|
3MT021
|
MGCA8
|
| 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, Xxxyy Syndrome
|
49X005
|
|
| 49,xxxxy Syndrome
|
49X002
|
|
| 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-Alpha Reductase Deficiency
|
5LP001
|
PPSH
|
| 5-Fluorouracil Poisoning
|
5FL002
|
|
| 5-Nucleotidase Syndrome
|
5NC001
|
|
| 5-Oxoprolinase Deficiency
|
5XP001
|
OPLAHD
|
| 5q14.3 Microdeletion Syndrome
|
5Q1001
|
|
| 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
|
|
