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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
How to query this table
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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. If that column is already selected to sort on, the sort order will be swapped. 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.
49 entries on 1 page. Showing entries 1 - 49.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00882
-
cancer, esophageal
133239
-
-
-
DCC, DEC1, DLEC1, LZTS1, RNF6, TGFBR2, WWOX
-
-
00883
-
Loeys-Dietz syndrome, type 1B
610168
-
-
-
TGFBR2
-
-
00884
-
Loeys-Dietz syndrome, type 2B
610380
-
-
-
TGFBR2
-
-
01240
-
Leukocyte adhesion deficiency type 1
116920
-
-
-
ITGB2
-
-
01310
-
Epidermolysis bullosa simplex, Cockayne-Touraine type
131800
-
-
-
ITGB4, KRT14, KRT5
-
-
01430
-
Megaduodenum and/or megacystis
155310
-
-
-
ACTG2
-
-
01670
-
asthma, nasal polyps, and aspirin intolerance
208550
-
-
-
PTGER2, TBX21
-
-
01774
-
Adult junctional epidermolysis bullosa
226650
-
-
-
COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
-
-
01777
-
Epidermolysis bullosa with pyloric atresia
226730
-
-
-
ITGA6, ITGB4, PLEC
-
-
02093
-
Glanzmann's thrombasthenia
273800
-
-
-
ITGA2B, ITGB3
-
-
02099
-
Iodotyrosyl coupling defect
274700
-
-
-
TG
-
-
02740
-
Autoimmune thyroid disease 3
608175
-
-
-
TG, ZFAT
-
-
03281
-
dystrophy, muscular, congenital, due to integrin alpha-7 deficiency
613204
-
-
-
ITGA7
-
-
04015
-
Rienhoff syndrome
615582
-
-
-
TGFB3
-
-
04527
AI-1H
amelogenesis imperfecta, type IH (AI-1H)
616221
-
-
-
ITGB6
-
-
00190
ARCI-1
ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1)
242300
-
-
-
TGM1
-
-
00192
ARCI-2
ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2)
242100
-
-
-
ALOX12B, TGM1
-
-
01182
ARVD-1;ARVC-1
dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1, arrhythmogenic right ventricular cardiomyopathy (ARVC-1))
107970
-
-
-
TGFB3
-
-
02645
ASRT-1
asthma-related traits, susceptibility to, type 1 (ASRT-1)
607277
-
-
-
PTGDR
-
-
01576
BDPLT-16
bleeding disorder, platelet type 16 (BDPLT-16)
187800
-
-
-
ITGA2B, ITGB3
-
-
03579
BDPLT-9
bleeding disorder, platelet type 9 (BDPLT-9)
614200
-
-
-
ITGA2
-
-
01012
BRWS-2
Baraitser-Winter syndrome, type 2 (BRWS-2)
614583
-
-
-
ACTG1
-
-
01305
CAEND;DPD-1
Camurati-Engelmann disease (CAEND, dysplasia, diaphyseal, progressive type 1 (DPD-1))
131300
-
-
-
TGFB1
-
-
05031
CATMANS
Catel-Manzke syndrome (CATMANS)
616145
-
-
-
TGDS
-
-
00462
CDA
dystrophy, cornea, Avellino type (CDA)
607541
-
-
-
TGFBI
-
-
00460
CDGG-1
dystrophy, corneal, Groenouw type I (CDGG-1)
121900
-
-
-
TGFBI
-
-
00465
CDL-3A
dystrophy, corneal, lattice type IIIA (CDL-3A)
608471
-
-
-
TGFBI
-
-
00464
CDRB;CDB-1
dystrophy, corneal, Reis-Bucklers type (CDRB, corneal dystrophy of Bowman layer type 1 (CDB-1))
608470
-
-
-
TGFBI
-
-
00463
CDTB;CDB-2
dystrophy, corneal, Thiel-Behnke type (CDTB, corneal dystrophy of Bowman layer type2 (CDB-2))
602082
-
-
-
TGFBI
-
-
00128
CF
cystic fibrosis (CF)
219700
-
-
-
CFTR, FCGR2A, TGFB1
-
-
01011
DFNA-20;DFNA-26
deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26)
604717
-
-
-
ACTG1
-
-
01266
EBMD
dystrophy, corneal, epithelial basement membrane (EBMD)
121820
-
-
-
TGFBI
-
-
00104
EHT
hypertension, essential (EHT)
145500
-
-
-
ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE
-
-
00881
HNPCC-6
cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6)
614331
-
-
-
TGFBR2
-
-
00438
HPE
holoprosencephaly (HPE)
236100
-
-
-
GLI2, SHH, SIX3, TGIF1, ZIC2
-
-
01369
HPE-4
holoprosencephaly, type 4 (HPE-4)
142946
-
-
-
TGIF1
-
-
03008
IBD-10
bowel disease, inflammatory, type 10 (IBD-10)
611081
-
-
-
ATG16L1
-
-
00139
ID
intellectual disability (ID)
-
-
-
-
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more
-
-
03722
ILNEB
lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)
614748
-
-
-
ITGA3
-
-
00461
LCD-1
dystrophy, corneal, lattice type I (LCD-1)
122200
-
-
-
TGFBI
-
-
02831
LDS-1
Loeys-Dietz syndrome, type 1 (LDS-1)
609192
-
-
-
TGFBR1
-
-
00203
LDS-4
Loeys-Dietz syndrome, type 4 (LDS_4)
614816
-
-
-
TGFB2
-
-
02760
MCI-1
myocardial infarction, susceptibility to, type 1 (MCI-1)
608446
-
-
-
ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4
-
-
01931
ML-3C
mucolipidosis, type III, gamma (ML-3C)
252605
-
-
-
GNPTG
-
-
01319
MSSE
epithelioma, squamous, multiple self healing (MSSE)
132800
-
-
-
TGFBR1
-
-
02876
PSS-2
skin, peeling, syndrome, type 2 (PSS-2)
609796
-
-
-
TGM5
-
-
01593
RHDA-1
hypodysplasia/aplasia, renal, type 1 (RHDA-1)
191830
-
-
-
ITGA8, PAX2, RET
-
-
00216
SCA-35
ataxia, spinocerebellar, type 35 (SCA-35)
613908
-
-
-
TGM6
-
-
02887
SLEB-6
lupus erythematosus, systemic, type 6 (SLEB-6)
609939
-
-
-
ITGAM
-
-
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