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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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Text
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Date
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Date
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all entries exactly matching 23
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all entries exactly matching 23 or 24
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Numeric
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all entries not exactly matching 23
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Numeric
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all entries higher than, or equal to, 23
combination
Numeric
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all entries with values from 20 to 29, but not equal to 23
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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197 entries on 2 pages. Showing entries 1 - 100.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01058
-
Proud syndrome
300004
XL
-
-
ARX
-
-
01962
-
myxoma, intracardiac
255960
AD
-
-
PRKAR1A
-
-
04214
-
retinal disease
-
-
48179
45682
ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408
-
-
01160
ACRDYS1
acrodysostosis, with/without hormone resistance
101800
AD
39
33
PRKAR1A
-
flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance
01333
ADERM
adermatoglyphia (ADERM)
136000
AD
-
-
SMARCAD1
-
-
03805
AGS6
Aicardi-Goutieres syndrome, type 6 (AGS6)
615010
AR
-
-
ADAR
-
-
04145
AIMAH2
acth-independent macronodular adrenal hyperplasia 2
615954
AD;SMu
-
-
ARMC5
-
-
02139
AIS
insensitivity syndrome, androgen (AIS)
300068
XLR
590
590
AR, FOXD3
-
-
00845
ALAZS
Alazami syndrome (ALAZS)
615071
AR
15
15
LARP7
-
-
03085
ALS10
sclerosis, lateral, amyotrophic, type type 10 (ALS10)
612069
AD
128
-
TARDBP
-
-
03617
ALS16
sclerosis, lateral, amyotrophic, type 16, juvenile (ALS16)
614373
AR
-
-
SIGMAR1
-
-
00137
AOS1
Adams-Oliver syndrome, type 1 (AOS1)
100300
AD
1
54
ARHGAP31
-
-
03132
APL
leukemia, acute, promyelocytic
612376
-
1
1
NUMA1, RARA
-
-
01662
argininemia
argininemia
207800
AR
130
107
ARG1
-
-
03428
ARMD8
macular degeneration, age-related, type 8 (ARMD-8)
613778
-
-
-
ARMS2
-
-
02733
ARPHM;PVNH2
heterotopia, periventricular, autosomal recessive (ARPHM, periventricular heterotopia type 2 (PVNH-2))
608097
AR
1
1
ARFGEF2
-
autosomal recessive
04212
BBS
Bardet-Biedl syndrome (BBS)
-
-
282
240
ARL6, BBS9, C8orf37, IFT74
-
-
04364
BBS3
Bardet-Biedl syndrome, type 3 (BBS-3)
600151
AR
1
1
ARL6
-
-
04393
BENTA
B-cell expansion with NFKB and T-cell anergy (BENTA)
616452
AD
-
-
CARD11
-
-
04505
CAGSSS
cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
616007
AR
7
7
IARS2
-
-
00683
cancer, breast
cancer, breast, susceptibility
114480
-
8104
787
AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more
-
-
00639
cancer, lung
cancer, lung (adenocarcinoma)
211980
-
55
43
BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18
-
-
00424
cancer, ovarian
cancer, ovarian
167000
-
233
165
AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA
-
-
01524
cancer, prostate
cancer, prostate
176807
AD;SMu
252
204
AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3
-
-
01688
CANDF2
candidiasis, familial, type 2 (CANDF-2)
212050
AR
1
1
CARD9
-
-
03953
CILD23
dyskinesia, ciliary, type 23 (CILD-23)
615451
AR
1
1
ARMC4
-
-
02846
CIMT1
carotid intimal medial thickness 1
609338
-
-
-
PPARG
-
-
01897
CMRD
chylomicron retention disease
246700
AR
28
28
SAR1B
-
-
02364
CMT2D
Charcot-Marie-Tooth disease, type 2D (CMT-2D)
601472
AD
1
1
GARS
-
-
03301
CMT2N
Charcot-Marie-Tooth disease, type 2N (CMT2N)
613287
AD
-
-
AARS
-
-
04569
CMT2U
Charcot-Marie-Tooth disease, axonal, type 2U (CMT-2U)
616280
AD
2
2
MARS
-
-
02751
CMTDIC
Charcot-Marie-Tooth disease, dominant intermediate, type C (CMTDIC)
608323
AD
4
4
YARS
-
-
03374
CMTRIB
Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB)
613641
AR
-
-
KARS
-
-
01459
CNC1
Carney complex, type 1 (CNC-1)
160980
AD
1
1
PRKAR1A
-
-
03792
COXPD12
combined oxidative phosphorylation deficiency, type 12 (COXPD-12)
614924
AR
-
-
EARS2
-
-
00847
COXPD14
oxidative phosphorylation deficiency, combined, type 14 (COXPD-14)
614946
AR
-
-
FARS2
-
-
05060
COXPD20
oxidative phosphorylation deficiency, combined, type 20 (COXPD-20)
615917
AR
-
-
VARS2
-
-
04131
COXPD21
combined oxidative phosphorylation deficiency, type 21 (COXPD-21)
615918
AR
-
-
TARS2
-
-
04590
COXPD24
oxidative phosphorylation deficiency, combined, type 24 (COXPD-24)
616239
AR
-
-
NARS2
-
-
04570
COXPD25
oxidative phosphorylation deficiency?, combined, type 25 (COXPD-25)
616430
AR
-
-
MARS2
-
-
06214
COXPD27
Combined oxidative phosphorylation deficiency 27
616672
AR
-
-
CARS2
-
-
03546
COXPD8
combined oxidative phosphorylation deficiency, type 8 (COXPD-8)
614096
AR
-
-
AARS2
-
-
02221
CPDX1
chondrodysplasia punctata, type 1, X-linked recessive (CPDX-1)
302950
XLR
58
56
ARSE
-
-
00156
CSS
Coffin-Siris syndrome (CSS)
-
-
285
255
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11
-
-
05797
CSS11
Coffin-Siris syndrome, type 11 (CSS11)
618779
AD
-
-
SMARCD1
-
-
05385
CSS1;MRD12
Coffin-Siris syndrome, type 1 (MRD12)
135900
AD
10
9
ARID1B
-
autosomal dominant
00790
CSS2;MRD14
Coffin-Siris syndrome, type 2
614607
AD
2
2
ARID1A
-
-
00756
CSS3;MRD15
Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15))
614608
AD
-
-
SMARCB1
-
-
01018
CSS4;MRD16
Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16))
614609
AD
2
2
SMARCA4
-
-
05386
CSS5
Coffin-Siris syndrome, type 5 (CSS5)
616938
AD
-
-
SMARCE1
-
autosomal dominant
05387
CSS6
Coffin-Siris syndrome, type 6 (CSS6)
617808
AD
2
2
ARID2
-
autosomal dominant
05795
CSS8
Coffin-Siris syndrome, type 8 (CSS8)
618362
AR
-
-
SMARCC2
-
neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
05912
DEAPLE
deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE)
619196
AR
-
-
KARS
-
-
07167
DEDISB
developmental delay, impaired speech, and behavioral abnormalities, with/without seizures
619964
AD
-
-
ARFGEF1
-
-
00264
DEE1
encephalopathy, developmental and epileptic, type 1
308350
XLR
34
31
ARX
-
-
04342
DEE29
encephalopathy, developmental and epileptic, type 29 (DEE29)
616339
AR
-
-
AARS
-
-
02908
DFNB49
deafness, autosomal recessive, type 49 (DFNB-49)
610153
AR
2
2
MARVELD2
-
-
03486
DFNB89
deafness, autosomal recessive, type 89 (DFNB89)
613916
AR
1
1
KARS
-
-
06142
DFNB94
?Deafness, autosomal recessive 94
618434
AR
-
-
NARS2
-
-
03756
DFNB98
deafness, autosomal recessive, type 98 (DFNB-98)
614861
AR
-
-
TSPEAR
-
-
04604
DKCB6
dyskeratosis congenita, autosomal recessive, type 6 (DKCB-6)
616353
AR
-
-
PARN
-
-
04365
DO
blood group, Dombrock (DO)
616060
-
-
-
ART4
-
-
01291
DSH
dyschromatosis symmetrica hereditaria (DSH)
127400
AD
8
8
ADAR
-
autosomal dominant
01298
ECTD10A
dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD10A)
129490
AD
9
9
EDAR
-
-
01763
ECTD10B
dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD10B)
224900
AR
9
7
EDAR
-
-
03795
ECTD11A
dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD11A)
614940
AD
2
2
EDARADD
-
-
03796
ECTD11B
dysplasia, ectodermal, type 11B, hypohidrotic/hair/tooth, autosomal recessive (ECTD11B)
614941
AR
-
-
EDARADD
-
-
06524
ECTD14
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
618180
AR
-
-
TSPEAR
-
-
06010
EIEE38
Epileptic encephalopathy, early infantile, 38
617020
AR
-
-
ARV1
-
-
06055
EIEE75
Epileptic encephalopathy, early infantile, 75
618437
AR
-
-
PARS2
-
-
04363
EIEE8
encephalopathy, epileptic, early infantile, type 8 (EIEE-8)
300607
XLR
-
-
ARHGEF9
-
-
01954
EPM4
epilepsy, progressive myoclonic, type 4, with or without renal failure
254900
AR
-
-
SCARB2
-
-
05408
FAME
epilepsy, myoclonic, familial adult (FAME)
-
-
69
68
CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2
-
autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
04347
FAME2;FMCTE2
epilepsy, myoclonic, familial adult, type 2 (FAME2)
607876
AD
-
-
STARD7
-
-
05587
FAME3;FMCTE3
epilepsy, myoclonic, familial adult, type 3 (FAME3, FMCTE3)
613608
AD
-
-
MARCH6
-
autosomal dominant
05545
FPLD
lipodystrophy, familial partial (FPLD)
-
-
61
61
PPARG
-
-
02503
FPLD3
lipodystrophy, familial partial, type 3 (FPLD-3)
604367
AD
-
-
PPARG, PPP1R3A
-
-
01196
FY
blood group system, Dyffy
110700
AD;AR
-
-
DARC
-
-
06810
GRIDHH
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
617093
AR
-
-
IARS
-
-
00337
HBSL
leukoencephalopathy, hypomyelination with brain stem and spinal cord involvement, leg spasticity (HBSL)
615281
AR
8
8
DARS
-
-
02979
HDLCQ6
HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6)
610762
-
-
-
SCARB1
-
-
06564
HLASA
?Hydrops, lactic acidosis, and sideroblastic anemia
617021
AR
-
-
LARS2
-
-
04640
HLD9
leukodystrophy, hypomyelinating, type 9 (HLD-9)
616140
AR
1
1
RARS
-
-
05111
HMN
neuropathy, motor, distal, hereditary (HMN)
-
-
109
106
GBF1, WARS
-
-
00195
HMN5A
neuropathy, motor, distal, hereditary, type Va (HMN-5A)
600794
AD
23
22
BSCL2, GARS
-
-
06237
HMN9
Neuronopathy, distal hereditary motor, type IX
617721
AD
-
-
WARS
-
-
03164
HRM1
hair morphology, type 1, thickness (HRM1)
612630
-
-
-
EDAR
-
-
06608
HRZ
Huriez syndrome
181600
AD
-
-
SMARCAD1
-
-
03461
HUPRAS
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRAS)
613845
AR
-
-
SARS2
-
autosomal recessive
07009
HYC
hydrocephalus
-
-
13
13
SMARCC1, TRIM71
-
-
07008
HYC5
hydrocephalus, congenital, type 5, susceptibility
620241
AD
-
-
SMARCC1
-
-
02131
HYPT8
hypotrichosis, type 8 (HYPT-8)
278150
AR
-
-
LPAR6
-
-
02173
HYSP1
hypospadias, type 1, X-linked (HYSP-1)
300633
XLR
1
1
AR
-
-
00139
ID
intellectual disability (ID)
-
-
2706
2388
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
03948
ILFS1
liver failure syndrome, infantile, type 1
615438
AR
1
1
LARS
-
-
03964
ILLD
lung and liver disease, interstitial (ILLD, liver failure syndrome, infantile, type 2)
615486
AR
7
7
MARS
-
-
07160
IMD113
immunodeficiency, type 113, with autoimmunity and autoinflammation
620565
AR
-
-
ARPC5
-
-
03852
IMD11A
Immunodeficiency 11A
615206
AR
-
-
CARD11
-
-
06744
IMD11B
Immunodeficiency 11B with atopic dermatitis
617638
AD
-
-
CARD11
-
-
06521
IMD45
?Immunodeficiency 45
616669
AR
-
-
IFNAR2
-
-
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