How to query this table
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Note that search terms are case-insensitive and that wildcards such as * are treated as normal text!
For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator |
Column type |
Example |
Matches |
|
Text |
Arg |
all entries containing 'Arg' |
space |
Text |
Arg Ser |
all entries containing 'Arg' and 'Ser' |
| |
Text |
Arg|Ser |
all entries containing 'Arg' or 'Ser' |
! |
Text |
!fs |
all entries not containing 'fs' |
^ |
Text |
^p.(Arg |
all entries beginning with 'p.(Arg' |
$ |
Text |
Ser)$ |
all entries ending with 'Ser)' |
="" |
Text |
="" |
all entries with this field empty |
="" |
Text |
="p.0" |
all entries exactly matching 'p.0' |
!="" |
Text |
!="" |
all entries with this field not empty |
!="" |
Text |
!="p.0" |
all entries not exactly matching 'p.0?' |
combination |
Text |
*|Ter !fs |
all entries containing '*' or 'Ter' but not containing 'fs' |
|
Date |
2020 |
all entries matching the year 2020 |
| |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
! |
Date |
!2020-03 |
all entries not matching March, 2020 |
< |
Date |
<2020 |
all entries before the year 2020 |
<= |
Date |
<=2020-06 |
all entries in or before June, 2020 |
> |
Date |
>2020-06 |
all entries after June, 2020 |
>= |
Date |
>=2020-06-15 |
all entries on or after June 15th, 2020 |
combination |
Date |
2019|2020 <2020-03 |
all entries in 2019 or 2020, and before March, 2020 |
|
Numeric |
23 |
all entries exactly matching 23 |
| |
Numeric |
23|24 |
all entries exactly matching 23 or 24 |
! |
Numeric |
!23 |
all entries not exactly matching 23 |
< |
Numeric |
<23 |
all entries lower than 23 |
<= |
Numeric |
<=23 |
all entries lower than, or equal to, 23 |
> |
Numeric |
>23 |
all entries higher than 23 |
>= |
Numeric |
>=23 |
all entries higher than, or equal to, 23 |
combination |
Numeric |
>=20 <30 !23 |
all entries with values from 20 to 29, but not equal to 23 |
Some more advanced examples:
Example |
Matches |
Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
Asian|African !Caucasian |
all entries containing 'Asian' or 'African', but not containing 'Caucasian' |
"South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
To sort on a certain column, click on the column header or on the arrows.
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The column currently sorted on has a darker blue background color than the other columns.
The up and down arrows next to the column name indicate the current sorting direction.
When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
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ID
|
Abbreviation
|
Name
|
OMIM ID
|
Inheritance
|
Individuals
|
Phenotypes
|
Associated with genes
|
Associated tissues
|
Disease features
|
00033 |
a-THAL |
ALPHA-THALASSEMIA |
604131 |
- |
- |
- |
HBA1, HBA2 |
- |
- |
00034 |
ACH |
ACHONDROPLASIA |
100800 |
- |
- |
- |
FGFR3 |
- |
- |
00084 |
ACMICD |
ACROMICRIC DYSPLASIA |
102370 |
AD |
- |
- |
FBN1 |
- |
- |
00124 |
ADCC |
ADRENOCORTICAL CARCINOMA, HEREDITARY |
202300 |
AD |
- |
- |
TP53 |
- |
- |
00098 |
AFND |
NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE |
608068 |
- |
- |
- |
MEFV |
- |
- |
00190 |
AIFEC |
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS |
616050 |
AD |
- |
- |
NLRC4 |
- |
- |
00176 |
ARVD11 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 |
610476 |
AD;AR |
- |
- |
DSG2 |
- |
- |
00065 |
AT |
ATAXIA-TELANGIECTASIA |
208900 |
AR |
- |
- |
ATM |
- |
- |
00155 |
ATFB3 |
ATRIAL FIBRILLATION, FAMILIAL, 3 |
607554 |
AD |
- |
- |
- |
- |
- |
00032 |
b-THAL |
BETA-THALASSEMIA |
613985 |
- |
- |
- |
HBB |
- |
- |
00125 |
BCC7 |
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 |
614740 |
AD |
- |
- |
TP53 |
- |
- |
00077 |
BCDS1 |
BLEPHAROCHEILODONTIC SYNDROME 1 |
119580 |
AD |
- |
- |
CDH1 |
- |
- |
00114 |
BCNS1 |
BASAL CELL NEVUS SYNDROME 1 |
109400 |
AD |
- |
- |
PTCH1 |
- |
- |
00079 |
BESC1 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 |
211400 |
AD |
- |
- |
CFTR |
- |
- |
00055 |
BLAUS |
BLAU SYNDROME |
186580 |
AD |
- |
- |
NOD2 |
- |
- |
00123 |
BMFS5 |
BONE MARROW FAILURE SYNDROME 5 |
618165 |
AD |
- |
- |
TP53 |
- |
- |
00028 |
BREAST CANCER |
BREAST CANCER |
114480 |
AD;SMu |
- |
- |
ATM, BARD1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, TP53 |
- |
- |
00002 |
BROVCA1 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 |
604370 |
AD |
- |
- |
BRCA1 |
- |
- |
00011 |
BROVCA2 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 |
612555 |
AD |
- |
- |
BRCA2 |
- |
- |
00012 |
BROVCA3 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 |
613399 |
- |
- |
- |
RAD51C |
- |
- |
00013 |
BROVCA4 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 |
614291 |
- |
- |
- |
RAD51D |
- |
- |
00030 |
CAH1 |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
201910 |
AR |
- |
- |
CYP21A2 |
- |
- |
00078 |
CBAVD |
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF |
277180 |
AR |
- |
- |
CFTR |
- |
- |
00004 |
CF |
CYSTIC FIBROSIS |
219700 |
AR |
- |
- |
CFTR |
- |
- |
00164 |
CFC1 |
CARDIOFACIOCUTANEOUS SYNDROME 1 |
115150 |
AD |
- |
- |
BRAF |
- |
- |
00137 |
CINCA |
CINCA SYNDROM |
607115 |
AD |
- |
- |
NLRP3 |
- |
- |
00201 |
CMD1DD |
CARDIOMYOPATHY, DILATED, 1DD |
613172 |
- |
- |
- |
RBM20 |
- |
- |
00129 |
CMD1G |
CARDIOMYOPATHY, DILATED, 1G |
604145 |
AD |
- |
- |
TTN |
- |
- |
00174 |
CMD1I |
CARDIOMYOPATHY, DILATED, 1I |
604765 |
AD |
- |
- |
DES |
- |
- |
00177 |
CMD1J |
CARDIOMYOPATHY, DILATED, 1J |
605362 |
AD |
- |
- |
EYA4 |
- |
- |
00198 |
CMD1O |
CARDIOMYOPATHY, DILATED, 1O |
608569 |
AD |
- |
- |
ABCC9 |
- |
- |
00154 |
CMH4 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 |
115197 |
AD;AR |
- |
- |
MYBPC3 |
- |
- |
00130 |
CMH9 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 |
613765 |
AD |
- |
- |
TTN |
- |
- |
00169 |
CMM2 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 |
155601 |
AD |
- |
- |
CDKN2A |
- |
- |
00167 |
CMM3 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 |
609048 |
AD |
- |
- |
CDK4 |
- |
- |
00185 |
CMT2A1 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 |
118210 |
AD |
- |
- |
KIF1B |
- |
- |
00131 |
CMYP5 |
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY |
611705 |
AR |
- |
- |
TTN |
- |
- |
00126 |
CPP |
PAPILLOMA OF CHOROID PLEXUS |
260500 |
AD |
- |
- |
TP53 |
- |
- |
00081 |
CRC |
COLORECTAL CANCER |
114500 |
AD |
- |
- |
CHEK2, TP53 |
- |
- |
00160 |
CRCS10 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 |
612591 |
AD |
- |
- |
POLD1 |
- |
- |
00194 |
CWS1 |
COWDEN SYNDROME 1 |
158350 |
AD |
- |
- |
PTEN |
- |
- |
00162 |
DESMD |
DESMOID DISEASE, HEREDITARY |
135290 |
AD |
- |
- |
APC |
- |
- |
00138 |
DFNA34 |
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION |
617772 |
AD |
- |
- |
NLRP3 |
- |
- |
00031 |
DFNB1A |
DEAFNESS, AUTOSOMAL RECESSIVE 1A |
220290 |
- |
- |
- |
GJB2 |
- |
- |
00044 |
DGLBC |
DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME |
137215 |
AD |
- |
- |
CDH1 |
- |
- |
00085 |
ECTOL1 |
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT |
129600 |
AD |
- |
- |
FBN1 |
- |
- |
00059 |
EDSCL2 |
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 |
130010 |
AD |
- |
- |
AEBP1, COL5A2 |
- |
- |
00202 |
EDSCLL2 |
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 |
618000 |
AR |
- |
- |
- |
- |
- |
00173 |
EDSVASC |
EHLERS-DANLOS SYNDROME, VASCULAR TYPE |
130050 |
AD |
- |
- |
COL3A1 |
- |
- |
00103 |
ENDOMETRIAL CANCER |
ENDOMETRIAL CANCER |
608089 |
AD |
- |
- |
MSH6 |
- |
- |
00052 |
FANCA |
FANCONI ANEMIA, COMPLEMENTATION GROUP A |
227650 |
AR |
- |
- |
FANCA |
- |
- |
00070 |
FANCD1 |
Fanconi anemia, complementation group D1 |
605724 |
AR |
- |
- |
BRCA2 |
- |
- |
00076 |
FANCJ |
FANCONI ANEMIA, COMPLEMENTATION GROUP J |
609054 |
- |
- |
- |
BRIP1 |
- |
- |
00027 |
FANCN |
FANCONI ANEMIA, COMPLEMENTATION GROUP N |
610832 |
- |
- |
- |
PALB2 |
- |
- |
00118 |
FANCO |
FANCONI ANEMIA, COMPLEMENTATION GROUP O |
613390 |
AR |
- |
- |
RAD51C |
- |
- |
00069 |
FANCS |
FANCONI ANEMIA, COMPLEMENTATION GROUP S |
617883 |
AR |
- |
- |
BRCA1 |
- |
- |
00161 |
FAP1 |
FAMILIAL ADENOMATOUS POLYPOSIS 1 |
175100 |
AD |
- |
- |
APC |
- |
- |
00049 |
FAP2 |
FAMILIAL ADENOMATOUS POLYPOSIS 2 |
608456 |
AR |
- |
- |
MUTYH |
- |
- |
00191 |
FAP3 |
FAMILIAL ADENOMATOUS POLYPOSIS 3 |
616415 |
AD |
- |
- |
- |
- |
- |
00139 |
FCAS1 |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 |
120100 |
AD |
- |
- |
NLRP3 |
- |
- |
00142 |
FCAS2 |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 |
611762 |
AD |
- |
- |
NLRP12 |
- |
- |
00189 |
FCAS4 |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 |
616115 |
AD |
- |
- |
NLRC4 |
- |
- |
00026 |
FD |
FABRY DISEASE |
301500 |
- |
- |
- |
GLA |
- |
- |
00147 |
FHBL1 |
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 |
615558 |
AR |
- |
- |
APOB |
- |
- |
00148 |
FHCL1 |
HYPERCHOLESTEROLEMIA, FAMILIAL, 1 |
143890 |
AD |
- |
- |
LDLR |
- |
- |
00146 |
FHCL2 |
HYPERCHOLESTEROLEMIA, FAMILIAL, 2 |
144010 |
AD |
- |
- |
APOB |
- |
- |
00025 |
FMF |
FAMILIAL MEDITERRANEAN FEVER |
249100 |
AR |
- |
- |
MEFV |
- |
- |
00097 |
FMFAD |
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
134610 |
AD |
- |
- |
MEFV |
- |
- |
00144 |
FPF |
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT |
142680 |
AD |
- |
- |
TNFRSF1A |
- |
- |
00096 |
FRTS4 |
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG |
616026 |
AD |
- |
- |
HNF4A |
- |
- |
00105 |
FSNF |
NEUROFIBROMATOSIS, FAMILIAL SPINAL |
162210 |
AD |
- |
- |
NF1 |
- |
- |
00163 |
GAPPS |
GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH |
619182 |
AD |
- |
- |
APC |
- |
- |
00038 |
GIST |
GASTROINTESTINAL STROMAL TUMOR |
606764 |
AD |
- |
- |
KIT, SDHB |
- |
- |
00192 |
GISTPS |
GIST-PLUS SYNDROME |
175510 |
- |
- |
- |
PDGFRA |
- |
- |
00127 |
GLM1 |
GLIOMA SUSCEPTIBILITY 1 |
137800 |
AD |
- |
- |
TP53 |
- |
- |
00072 |
GLM3 |
GLIOMA SUSCEPTIBILITY 3 |
613029 |
AR |
- |
- |
BRCA2 |
- |
- |
00086 |
GPHYSD2 |
GELEOPHYSIC DYSPLASIA 2 |
614185 |
AD |
- |
- |
FBN1 |
- |
- |
00035 |
HCH |
HYPOCHONDROPLASIA |
146000 |
- |
- |
- |
FGFR3 |
- |
- |
00063 |
HHF1 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
256450 |
AD;AR |
- |
- |
ABCC8 |
- |
- |
00091 |
HHF3 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 |
602485 |
AD |
- |
- |
GCK |
- |
- |
00200 |
HLRCC |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER |
150800 |
AD |
- |
- |
FH |
- |
- |
00115 |
HPE7 |
HOLOPROSENCEPHALY 7 |
610828 |
AD |
- |
- |
PTCH1 |
- |
- |
00043 |
HPRCC |
Renal cell carcinoma, papillary, 1, familial and somatic |
605074 |
- |
- |
- |
MET |
- |
- |
00108 |
IBD1 |
NFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 |
266600 |
Mu |
- |
- |
NOD2 |
- |
- |
00022 |
ISS |
SHORT STATURE, IDIOPATHIC, X-LINKED |
300582 |
- |
- |
- |
SHOX |
- |
- |
00156 |
JLNS1 |
JERVELL AND LANGE-NIELSEN SYNDROME |
- |
AR |
- |
- |
KCNQ1 |
- |
- |
00104 |
JMML |
JUVENILE MYELOMONOCYTIC LEUKEMIA |
607785 |
AD |
- |
- |
NF1 |
- |
- |
00149 |
JPHT |
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME |
175050 |
AD |
- |
- |
SMAD4 |
- |
- |
00151 |
JPS |
JUVENILE POLYPOSIS SYNDROME |
174900 |
AD |
- |
- |
SMAD4 |
- |
- |
00140 |
KEFH |
KERATOENDOTHELIITIS FUGAX HEREDITARIA |
148200 |
AD |
- |
- |
NLRP3 |
- |
- |
00109 |
KPD |
DIABETES MELLITUS, KETOSIS-PRONE |
612227 |
AD;AR |
- |
- |
PAX4 |
- |
- |
00067 |
KURIS |
KURY-ISIDOR SYNDROME |
619762 |
AD |
- |
- |
BAP1 |
- |
- |
00152 |
LDS3 |
LOEYS-DIETZ SYNDROME 3 |
613795 |
AD |
- |
- |
SMAD3 |
- |
- |
00021 |
LFS1 |
LI-FRAUMENI SYNDROME 1 |
151623 |
AD |
- |
- |
TP53 |
- |
- |
00080 |
LFS2 |
LI-FRAUMENI SYNDROME 2 |
609265 |
- |
- |
- |
CHEK2 |
- |
- |
00132 |
LGMDR10 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 |
608807 |
AR |
- |
- |
TTN |
- |
- |
00064 |
LIH |
HYPOGLYCEMIA, LEUCINE-INDUCED |
240800 |
AD |
- |
- |
ABCC8 |
- |
- |
00120 |
LMD |
LANGER MESOMELIC DYSPLASIA |
249700 |
XL;XLR;YL |
- |
- |
SHOX |
- |
- |
00116 |
LPRD1 |
LEOPARD SYNDROME 1 |
151100 |
AD |
- |
- |
PTPN11 |
- |
- |
00165 |
LPRD3 |
LEOPARD SYNDROME 3 |
613707 |
- |
- |
- |
BRAF |
- |
- |
|
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