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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
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2867 entries on 29 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00001
JBS
Johanson-Blizzard syndrome (JBS)
243800
AR
83
79
UBR1
-
-
00002
JBTS1
Joubert syndrome, type 1 (JBTS1)
213300
AR
49
53
INPP5E, TCTN1
-
-
00004
KTZS
Kohlschutter-Tonz syndrome
226750
AR
43
43
ROGDI
-
-
00005
MDDGC5;LGMDR9;LGMD2I
dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)
607155
AR
5
7
FKRP
-
-
00006
IVA
isovaleric acidemia (IVA)
243500
AR
14
6
IVD
-
-
00007
LCCS1
contracture syndrome, lethal, congenital, type 1
253310
AR
32
33
GLE1
-
-
00008
CAAHD
arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)
611890
AR
18
16
GLE1
-
-
00009
EPM1A
epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)
254800
AR
2
3
CSTB
-
-
00010
MCLMR
microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)
152950
AD
85
60
KIF11
-
-
00011
USH3B
Usher syndrome, type 3B (USH-3B)
614504
AR
5
4
HARS
-
-
00012
PSORS
psoriasis, pustular, generalized (PSORS)
-
-
15
14
-
-
-
00013
SPD
dwarfism, primordial, syndromic (SPD)
-
-
3
3
LARP7
-
-
00014
SCP
palsy, cerebral, spastic (SCP)
-
-
22
3
IL18
-
-
00015
FLHS
Floating-Harbor syndrome (FLHS)
136140
AD
74
75
SRCAP
-
-
00016
HYDM2
mole, hydatidiform, recurrent, type 2 (HYDM-2)
614293
AR
1
2
KHDC3L
-
-
00017
MRXS10
mental retardation, X-linked syndromic, type 10 (MRXS-10)
300220
-
3
4
HSD17B10
-
-
00018
HSD10MD
HSD10 Mi disease
300438
XLD
24
23
HSD17B10
-
-
00021
DFNX1
deafness, X-linked, type 1 (DFNX-1)
304500
XL
1
1
PRPS1
-
-
00024
WABS
Warsaw breakage syndrome (WABS)
613398
Mu
22
22
DDX11
-
cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalitie; cardiac defects; no limb reductions; hearing loss; skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
00025
FTDALS
dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS)
105550
AD
277
11
C9orf72
-
-
00026
arthrogryposis
arthrogryposis
-
-
60
60
GLE1, TNNT3
-
-
00030
ODG1
dysgenesis, ovarian, type 1
233300
AR
16
15
FSHR
-
-
00031
Mulibrey nanism
Mulibrey nanism (muscle-liver-brain-eye dwarfism)
253250
AR
1
1
TRIM37
-
-
00033
MHS1
hyperthermia, malignant, susceptibility, type 1 (MHS-1)
145600
AD
4
3
RYR1
-
autosomal dominant
00035
GCE
encephalopathy, glycine (GCE)
-
-
588
588
AMT, GCSH, GLDC
-
-
00037
MC3DN1
mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)]
124000
AR
1
1
BCS1L
-
-
00038
LS
Leigh syndrome (LS)
256000
AR;Mi
72
62
BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
-
-
00040
MTDPS7
mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7)
271245
AR
7
7
C10orf2
-
-
00041
PEOA3
ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3)
609286
AD
3
1
C10orf2
-
-
00042
MTDPS3
mitochondrial DNA depletion syndrome (hepatocerebral), type 3 (MTDPS-3)
251880
AR
4
4
DGUOK
-
-
00044
FAF
amyloidosis, Finnish type (type V) (FAF)
105120
AD
24
24
GSN
-
-
00047
lactose intol.
lactose intolerance (lactase persistence/nonpersistence)
223100
AD
12
12
LCT, MCM6
-
-
00049
SD
Salla disease (SD)
604369
AR
2
1
SLC17A5
-
-
00050
hydrops fetalis
hydrops fetalis
-
-
9
8
ANGPT2
-
-
00051
LPI
lysinuric protein intolerance (LP!)
222700
AR
1
1
SLC7A7
-
-
00053
RAPADILINO
RAPADILINO syndrome
266280
AR
-
1
RECQL4
-
-
00054
RTS2
Rothmund-Thomson syndrome, type 2,
268400
AR
35
40
ANAPC1, RECQL4
-
-
00057
MSUD1A
maple syrup urine disease, type Ia
248600
AR
9
9
BCKDHA
-
-
00058
CORD
dystrophy, cone-rod (CORD)
-
-
363
361
ADAM9, DRAM2, GUCY2D, PITPNM3, POC1B, RAB28, TTLL5
-
-
00060
CLN5
lipofuscinosis, ceroid, neuronal, type 5 (CLN-5)
256731
AR
7
7
CLN5
-
-
00061
CLN8
lipofuscinosis, ceroid, neuronal, type 8 (CLN-8)
600143
AR
3
3
CLN8
-
-
00064
CLN1
lipofuscinosis, ceroid, neuronal, type 1 (CLN-1)
256730
AR
8
9
PPT1
-
-
00065
Rett syndrome
Rett syndrome, congenital variant
613454
AD
33
36
FOXG1
-
-
00066
RTT
Rett syndrome (RTT)
312750
XLD
42
1405
MECP2
-
-
00067
DEE2
encephalopathy, developmental and epileptic, type 2
300672
XLD
62
56
CDKL5
-
-
00068
CLN3
lipofuscinosis, ceroid, neuronal, type 3 (CLN3)
204200
AR
13
13
CLN3
-
-
00073
MDDGA3;MEB;WWS
dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A3 (Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB))
253280
AR
23
23
POMGNT1
-
-
00074
NPHS1
nephrotic syndrome, type 1 (NPHS-1, Finnish congenital nephrosis (CNF))
256300
AR
4
4
NPHS1
-
-
00075
MKS3
Meckel syndrome, type 3
607361
AR
1
1
TMEM67
-
-
00076
COACH
COACH syndrome
216360
AR
1
1
CC2D2A, RPGRIP1L, TMEM67
-
-
00078
MKS1
Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)
249000
AR
16
16
MKS1
-
-
00082
JBTS9
Joubert syndrome, type 9 (JBTS-9)
612285
AR
1
1
CC2D2A
-
-
00083
FSHD2
dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2)
158901
-
146
118
DUX4, LRIF1, SMCHD1
-
-
00085
COH1
Cohen syndrome, type 1
216550
AD
17
16
VPS13B
-
bushy eyebrows and eyelashes, down-slanting palpebral fissures with a wave-shaped outline, high nasal bridge, low-set columella, and a short, upturned philtrum with prominent central incisors; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); high myopia and retinal dystrophy, narrow hands with slender fingers, narrow feet with sandal gap, pubertal delay and neutropenia
00086
MRSHSS
Marshall-Smith syndrome (MRSHSS)
602535
AD
18
18
NFIX
-
-
00087
MALNS;SOTOS2
Malan syndrome (previously SOTOS2)
614753
AD
60
4
NFIX
-
-
00088
DIAR1
diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1)
214700
AR
69
2
SLC26A3
-
-
00089
BBS1
Bardet-Biedl syndrome, type 1 (BBS-1)
209900
AR;DR
12
11
BBS1, CCDC28B, MKS1, TMEM67
-
-
00090
ECTD9
dysplasia, ectodermal, type 9, hair/nail (ECTD-9)
614931
AR
1
1
HOXC13
-
-
00091
CRC
cancer, colorectal, susceptibility to (CRC)
114500
AD;SMu
3065
1838
AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more
-
-
00092
WARBM1
Warburg micro syndrome, type 1 (WARBM1)
600118
AR
3
2
RAB3GAP1
-
-
00093
WARBM3
Warburg micro syndrome, type 3 (WARBM3)
614222
AR
-
2
RAB18
-
-
00094
WARBM2
Warburg micro syndrome, type 2 (WARBM2)
614225
AR
1
2
RAB3GAP2
-
-
00095
AD3
Alzheimer disease, type 3 (protection against, due to APOE3-Christchurch)
607822
AD
34
515
APOE, PSEN1
-
-
00096
FTD
dementia, frontotemporal (FTD)
600274
AD
429
61
MAPT, PSEN1
-
-
00098
SLSN7
Senior-Loken syndrome, type 7 (SLSN-7)
613615
-
20
285
SDCCAG8
-
-
00100
CATLPH
atresia, choanal, and lymphedema (CATLPH)
613611
AR
-
21
PTPN14
-
-
00101
TMD
dystrophy, muscular, tibial (TMD)
600334
AD
11
12
TTN
-
-
00102
cancer, predisposition
cancer, predisposition
-
-
14
18
USP20
-
-
00103
MRLIAF
mental retardation, language impairment, autistic features (MRLIAF)
613670
AD
4
2
FOXP1
-
-
00104
EHT
hypertension, essential, susceptibility to (EHT)
145500
Mu
2
388
ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE
-
-
00105
ACG1B
achondrogenesis, type IB (ACG-1B)
600972
AR
1
3
SLC26A2
-
-
00106
AO2
atelosteogenesis, type II (AO-2, De la Chapelle dysplasia)
256050
AR
1
4
SLC26A2
-
-
00107
EDM4
dysplasia, epiphyseal, multiple, type 4 (EDM-4)
226900
AR
-
6
SLC26A2
-
-
00108
DYT
dystonia (DYT)
-
-
174
214
GNAL, KMT2B, THAP1
-
-
00109
WDM
myopathy, distal, Welander (WDM)
604454
AD;AR
1
2
TIA1
-
-
00110
NBIA4
neurodegeneration, with brain iron accumulation, type 4 (NBIA-4)
614298
AD;AR
-
3
C19orf12
-
-
00111
TMAU
trimethylaminuria (TMAU, body odor, fish-like))
602079
AR
72
74
FMO3
-
autosomal recessive
00112
RP
retinitis pigmentosa (RP)
268000
-
1159
897
ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216
-
-
00113
FFDD3
dysplasia, dermal, focal facial, type 3 (FFDD-3, Setleis)
227260
AR
-
3
TWIST2
-
-
00114
GA1
glutaricaciduria, type 1 (GA-1)
231670
AR
811
832
GCDH
-
autosomal recessive
00115
CRMCC
microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)
612199
AR
33
32
CTC1, OBFC1, TEN1
-
-
00116
ND
Norrie disease
310600
XLR
71
73
NDP
-
-
00118
BRGDA1
Brugada syndrome, type 1 (BRGDA-1)
601144
AD
366
365
SCN5A
-
-
00119
DKC
dyskeratosis congenita (DKC)
-
-
19
19
CTC1
-
-
00120
CTC1related
CTC1-related diseases
-
AR
4
3
CTC1
-
-
00121
TPBS
brachydactyly, Temtamy, preaxial, syndrome (TPBS)
605282
AR
1
1
CHSY1
-
-
00122
ACEP
aceruloplasminemia
604290
AR
3
1
CP
-
-
00123
MDDGA1;MEB;WWS
dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A1 (WWS, MEB)
236670
AR
1
1
POMT1
-
-
00124
MFDGA;MFDM
dysostosis, mandibulofacial, Guion-Almeida type (MFDM)
610536
AD
71
48
EFTUD2
-
-
00125
FANCA
Fanconi anemia, complementation group A (FANCA)
227650
AR
1021
992
FANCA
-
-
00126
SCKL
Seckel syndrome (SCKL)
-
-
13
11
ATR, CENPJ, CEP152, CEP63, NIN, RBBP8
-
-
00128
CF
cystic fibrosis (CF)
219700
AR
562
554
CFTR, FCGR2A, TGFB1
-
-
00129
BESC1
bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1)
211400
AD
-
4
CFTR, SCNN1B
-
-
00130
PCTT
pancreatitis
167800
AD
68
59
CFTR, CTRC, PRSS1, PRSS2, SPINK1
-
-
00131
CBAVD
vas deferens, congenital bilateral absence (CBAVD)
277180
AR
-
1
CFTR
-
-
00132
MDS
myelodysplastic syndrome (MDS)
614286
SMo
10
13
ASXL1, GATA2, PTPN11, SF3B1, TET2
-
-
00133
WVS
Weaver syndrome (WVS)
277590
AD
63
61
EZH2
-
-
00134
NPS
nail-patella syndrome (NPS)
161200
AD
184
16
LMX1B
-
-
00135
GTPTS
genitopatellar syndrome (GTPTS)
606170
AD
27
14
KAT6B
-
-
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