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All diseases
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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.
32 entries on 1 page. Showing entries 1 - 32.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01673
-
atransferrinemia
209300
AR
3
3
TF
-
-
04230
ACHM
achromatopsia (ACHM)
-
-
105
104
ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
-
-
04366
ACHM7
achromatopsia, type 7 (ACHM-7)
616517
AR
-
-
ATF6
-
-
04567
BBS17
Bardet-Biedl syndrome, type 17 (BBS-17)
615994
AR
1
1
LZTFL1
-
-
00441
BOFS
branchiooculofacial syndrome (BOFS)
113620
AD
8
8
TFAP2A
-
-
00619
CHAR
Char syndrome
169100
AD
-
-
TFAP2B
-
-
03653
CMM8
melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM8)
614456
-
-
-
MITF
-
-
05224
COMMAD
COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness)
617306
AR
2
2
MITF
-
-
06345
CONDBA
Neurodegeneration, childhood-onset, with brain atrophy
617672
AD
-
-
UBTF
-
-
01151
COXPD15
combined oxidative phosphorylation deficiency, type 15 (COXPD-15)
614947
AR
-
-
MTFMT
-
-
03102
EMC
Chondrosarcoma, extraskeletal myxoid
612237
-
-
-
NR4A3, TAF15, TFG
-
-
03254
GLC1O
glaucoma, open angle, type 1O (GLC-1O)
613100
-
-
-
NTF4
-
-
00534
HFE3
hemochromatosis, type 3 (HFE-3)
604250
AR
14
14
TFR2
-
-
02513
HMSNO
neuropathy, motor and sensory, hereditary, Okinawa type
604484
AD
-
-
TFG
-
-
00139
ID
intellectual disability (ID)
-
-
2714
2396
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more
-
-
05292
IMD
immunodeficiency (IMD)
-
-
154
150
ATP6AP1, GTF3A, IL7R, LAT, PTPRC
-
-
06555
IMD46
Immunodeficiency 46
616740
AR
-
-
TFRC
-
-
01816
MADD
acyl-CoA dehydrogenation deficiency, multiple (MADD)
231680
AR
20
18
ETFA, ETFB, ETFDH
-
autosomal recessive
06275
MC1DN27
Mi complex I deficiency, nuclear type 27
618248
AR
-
-
MTFMT
-
-
06976
MRXSPF
intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies
301066
XL
-
-
TFE3
-
-
06079
MTDPS15
?Mi DNA depletion syndrome 15 (hepatocerebral type)
617156
AR
1
-
TFAM
-
-
06349
NEDDFL
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
617755
AD
-
-
BPTF
-
-
00258
PACA
agenesis, pancreatic and cerebellar (PACA)
609069
AR
13
13
PTF1A
-
-
04138
PAGEN2
agenesis, pancreatic, type 2 (PAGEN-2)
615935
AR
-
-
PTF1A
-
-
06695
PDA2
Patent ductus arteriosus 2
617035
AD
-
-
TFAP2B
-
-
02192
RCCX1
carcinoma, renal cell, Xp11-associated (RCCX1)
300854
-
-
-
TFE3
-
-
04043
SPG57
paraplegia, spastic, type 57, autosomal recessive (SPG-57)
615658
AR
7
7
TFG
-
-
01166
TADS
Tietz albinism-deafness syndrome (TADS)
103500
AD
-
-
MITF
-
-
00748
TTD
trichothiodystrophy (TTD)
-
-
19
19
ERCC2, ERCC3, GTF2H5, MPLKIP
-
-
04325
TTD3
trichothiodystrophy, type 3, photosentitive (TTD-3)
616395
-
-
-
GTF2H5
-
-
06781
TTD6
Trichothiodystrophy 6, nonphotosensitive
616943
AR
-
-
GTF2E2
-
-
01605
WS2A
Waardenburg syndrome, type 2A (WS2A)
193510
AD
8
6
MITF
-
-
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