List of Genetic Disorders - Full List

Full List

Sortable table
Disorder name Mutation type Chromosome
1p36 deletion syndrome D 1p36
18p deletion syndrome D 18p
21-hydroxylase deficiency 6p21.3
45,X
C X
47,XX,+21
C 21
47,XXX
C X
47,XXY
C X
47,XY,+21
C 21
47,XYY syndrome C Y
5-ALA dehydratase-deficient porphyria
5-aminolaevulinic dehydratase deficiency porphyria
5p deletion syndrome
D 5p
5p- syndrome
D 5p
A-T
AAT
Absence of vas deferens
Absent vasa
aceruloplasminemia
ACG2
ACH
Achondrogenesis type II
achondroplasia substitution 4p16.3
Acid beta-glucosidase deficiency
Acrocephalosyndactyly (Apert)
acrocephalosyndactyly, type V
Acrocephaly
Acute cerebral Gaucher's disease
acute intermittent porphyria
ACY2 deficiency
AD
Adelaide-type craniosynostosis
Adenomatous Polyposis Coli
Adenomatous Polyposis of the Colon
ADP
adenylosuccinate lyase deficiency
Adrenal gland disorders
Adrenogenital syndrome
Adrenoleukodystrophy
AIP
AIS
AKU
ALA dehydratase porphyria
ALA-D porphyria
ALA dehydratase deficiency
Alcaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis
alpha 1-antitrypsin deficiency
alpha-1 proteinase inhibitor
14q32.1
alpha-1 related emphysema
14q32.1
Alpha-galactosidase A deficiency
P Xq22.1
ALS
Alström syndrome
ALX
Alzheimer's disease
Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
Aminoacylase 2 deficiency
amyotrophic lateral sclerosis
Anderson-Fabry disease
P Xq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
X
Anemia, sex-linked hypochromic sideroblastic
X
Anemia, splenic, familial
Angelman syndrome
Angiokeratoma Corporis Diffusum
P Xq22.1
Angiokeratoma diffuse
Angiomatosis retinae
ANH1
X
APC resistance, Leiden type
Apert syndrome
AR deficiency
AR-CMT2
Arachnodactyly
ARNSHL
Arthro-ophthalmopathy, hereditary progressive
Arthrochalasis multiplex congenita
AS
Asp deficiency
Aspa deficiency
Aspartoacylase deficiency
ataxia telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
autosomal dominant juvenile ALS
Autosomal dominant opitz G/BBB syndrome
D 22q
autosomal recessive form of juvenile ALS type 3
Autosomal recessive nonsyndromic hearing loss
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
AxD
Ayerza syndrome
B variant of the Hexosaminidase GM2 gangliosidosis
BANF
Beare-Stevenson cutis gyrata syndrome 10q26
Benign paroxysmal peritonitis
Benjamin syndrome
beta-thalassemia
BH4 Deficiency
Bilateral Acoustic Neurofibromatosis
biotinidase deficiency
bladder cancer
Bleeding disorders
Bloch-Sulzberger syndrome
Bloom syndrome 15q26.1
Bone diseases
Bone marrow diseases
Bonnevie-Ullrich syndrome
Bourneville disease
Bourneville phakomatosis
Brain diseases
breast cancer
Birt–Hogg–Dubé syndrome 17
Brittle bone disease
Broad Thumb-Hallux syndrome
Bronze Diabetes
Bronzed cirrhosis
Bulbospinal muscular atrophy, X-linked
Burger-Grutz syndrome
CADASIL syndrome P 3
CGD Chronic granulomatous disorder
Campomelic dysplasia C 17q24.3-q25.1
Canavan disease
Cancer
Cancer Family syndrome
Cancer of breast
Cancer of the bladder
Carboxylase Deficiency, Multiple, Late-Onset
P 3
Cardiomyopathy
Cat cry syndrome
CAVD
Caylor cardiofacial syndrome
D 22q
CBAVD
Celiac Disease
CEP
Ceramide trihexosidase deficiency
X
Cerebelloretinal Angiomatosis, familial
P 3 (p26-p25)
Cerebral arteriopathy
with subcortical infarcts and leukoencephalopathy
P 3
Cerebral autosomal dominant ateriopathy
with subcortical infarcts and leukoencephalopathy
P 3
Cerebral sclerosis
9 (q34), 16 (p13.3)
Cerebroatrophic Hyperammonemia
X
Cerebroside Lipidosis syndrome
P 1(q21)
CF
D (most common);
or substitution
CFTR (7q31.2)
CH
Charcot disease
Charcot-Marie-Tooth disease
Chondrodystrophia
Chondrodystrophy syndrome
Chondrodystrophy with sensorineural deafness
Chondrogenesis imperfecta
Choreoathetosis self-mutilation hyperuricemia syndrome
P X
Classic Galactosemia
P 9 (p13)
Classical Ehlers–Danlos syndrome
Classical Phenylketonuria
Cleft lip and palate
Cloverleaf skull with thanatophoric dwarfism
CLS
CMT
Cockayne syndrome
Coffin-Lowry syndrome
collagenopathy, types II and XI
Colon Cancer, familial Nonpolyposis
Colon cancer, familial
Colorectal cancer
Complete HPRT deficiency
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
Compression neuropathy
Congenital adrenal hyperplasia
congenital bilateral absence of vas deferens
Congenital erythropoietic porphyria
Congenital heart disease
Congenital hypomyelination

Congenital hypothyroidism
Congenital methemoglobinemia
Congenital osteosclerosis
Congenital sideroblastic anaemia
X
Connective tissue disease
Conotruncal anomaly face syndrome
D 22q
Cooley's Anemia
Copper storage disease
13 (q14.3)
Copper transport disease
Coproporphyria, hereditary
Coproporphyrinogen oxidase deficiency
Cowden syndrome
CPO deficiency
CPRO deficiency
CPX deficiency
Craniofacial dysarthrosis
Craniofacial Dysostosis
Cretinism
Creutzfeldt-Jakob disease
Cri du chat D 5p
Crohn's disease, fibrostenosing P 16q12
Crouzon syndrome FGFR2 (10q25.3-q26)
Crouzon syndrome with acanthosis nigricans
Crouzonodermoskeletal syndrome
CS
Curschmann-Batten-Steinert syndrome
cutis gyrata syndrome of Beare-Stevenson
D-glycerate dehydrogenase deficiency
Dappled metaphysis syndrome
DAT - Dementia Alzheimer's type
Genetic hypercalciuria
Xp11.22
DBMD
Deafness with goiter
Deafness-retinitis pigmentosa syndrome
Deficiency disease, Phenylalanine Hydroxylase
P 12q
Degenerative nerve diseases
de Grouchy syndrome 1
D 18p
Dejerine-Sottas syndrome
Delta-aminolevulinate dehydratase deficiency porphyria
Dementia
demyelinogenic leukodystrophy
Dermatosparactic type of Ehlers–Danlos syndrome
Dermatosparaxis
developmental disabilities
dHMN
DHMN-V
DHTR deficiency
X
Diffuse Globoid Body Sclerosis
Di George's syndrome D 22q
Dihydrotestosterone receptor deficiency
X
distal spinal muscular atrophy, type V
DM1
T 19
DM2
T 3
Down syndrome 21
DSMAV
DSN
DSS
Duchenne/Becker muscular dystrophy
Dwarf, achondroplastic
3
Dwarf, thanatophoric
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome
dysmyelinogenic leukodystrophy
Dystrophia myotonica
T 19
dystrophia retinae pigmentosa-dysostosis syndrome
Early-Onset familial alzheimer disease (EOFAD)


EDS
Ehlers–Danlos syndrome
Ekman-Lobstein disease
Entrapment neuropathy
Epiloia
EPP
Erythroblastic anemia
Erythrohepatic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency
Erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria
Eye cancer

FA
Fabry disease P Xq22.1
Facial injuries and disorders
factor V Leiden thrombophilia
FALS
familial acoustic neuroma
familial adenomatous polyposis
familial Alzheimer disease (FAD)
familial amyotrophic lateral sclerosis
familial dysautonomia
familial fat-induced hypertriglyceridemia
familial hemochromatosis
familial LPL deficiency
familial nonpolyposis colon cancer
familial paroxysmal polyserositis
familial PCT
familial pressure sensitive neuropathy
familial primary pulmonary hypertension (FPPH)
Familial Turner syndrome
familial vascular leukoencephalopathy
FAP
FD
Female pseudo-Turner syndrome
Ferrochelatase deficiency
ferroportin disease
Fever
FG syndrome
FGFR3-associated coronal synostosis
Fibrinoid degeneration of astrocytes
Fibrocystic disease of the pancreas
FMF
Folling disease
fra(X) syndrome
Xq27.3
fragile X syndrome Xq27.3
Fragilitas ossium
FRAXA syndrome
Xq27.3
FRDA
Friedreich's ataxia
Friedreich's ataxia
FXS
Xq27.3
G6PD deficiency
Galactokinase deficiency disease
Galactose-1-phosphate uridyl-transferase deficiency disease
galactosemia
Galactosylceramidase deficiency disease
Galactosylceramide lipidosis
galactosylcerebrosidase deficiency
galactosylsphingosine lipidosis
GALC deficiency
GALT deficiency
Gaucher disease
Gaucher-like disease
GBA deficiency
GD
Genetic brain disorders
genetic emphysema
genetic hemochromatosis
Giant cell hepatitis, neonatal
GLA deficiency
Glioblastoma, retinal
Glioma, retinal
globoid cell leukodystrophy (GCL, GLD)
globoid cell leukoencephalopathy
Glucocerebrosidase deficiency
Glucocerebrosidosis
Glucosyl cerebroside lipidosis
Glucosylceramidase deficiency
Glucosylceramide beta-glucosidase deficiency
Glucosylceramide lipidosis
Glyceric aciduria
Glycine encephalopathy
Glycolic aciduria
GM2 gangliosidosis, type 1
Goiter-deafness syndrome
Graefe-Usher syndrome
Gronblad-Strandberg syndrome
Guenther porphyria
Gunther disease
Haemochromatosis
Hallgren syndrome
Harlequin type ichthyosis
Hb S disease
HCH
HCP
Head and brain malformations
Hearing disorders and deafness
Hearing problems in children
HEF2A
HEF2B
Hematoporphyria
Heme synthetase deficiency
Hemochromatoses
hemochromatosis
hemoglobin M disease
Hemoglobin S disease
hemophilia
HEP
hepatic AGT deficiency
hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome
Hereditary arthro-ophthalmopathy
Hereditary coproporphyria P 3q12
Hereditary dystopic lipidosis
Hereditary hemochromatosis (HHC)
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy
Hereditary iron-loading anemia
Hereditary motor and sensory neuropathy
Hereditary motor neuronopathy
Hereditary motor neuronopathy, type V
Hereditary multiple exostoses
Hereditary nonpolyposis colorectal cancer DNA mismatch repair dysfunction
usually in MSH2 and MLH1 genes
usually chromosomes 2 and 3
Hereditary periodic fever syndrome
Hereditary Polyposis Coli
Hereditary pulmonary emphysema
Hereditary resistance to activated protein C
Hereditary sensory and autonomic neuropathy type III
Hereditary spastic paraplegia
Hereditary spinal ataxia
Hereditary spinal sclerosis
Herrick's anemia
Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
HexA deficiency
Hexosaminidase A deficiency
Hexosaminidase alpha-subunit deficiency (variant B)
HFE-associated hemochromatosis
HGPS
Hippel-Lindau disease
HLAH
HMN V
HMSN
HNPCC
HNPP
homocystinuria
Homogentisic acid oxidase deficiency
Homogentisic acidura
Homozygous porphyria cutanea tarda
HP1
HP2
HPA
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
HSAN type III
HSAN3
HSN-III
Human dermatosparaxis
Huntington's disease T 4p16.3
Hutchinson-Gilford progeria syndrome
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Hyperchylomicronemia, familial
Hyperglycinemia with ketoacidosis and leukopenia
Hyperlipoproteinemia type I
hyperoxaluria, primary
hyperphenylalaninaemia
hyperphenylalaninemia
Hypochondrodysplasia
Hypochondrogenesis
Hypochondroplasia 4p16.3
Hypochromic anemia
Hypocupremia, congenital
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency
IAHSP
ICF syndrome
20q11.2
Idiopathic hemochromatosis
Idiopathic neonatal hemochromatosis
Idiopathic pulmonary hypertension
Immune system disorders
Incontinentia pigmenti P Xq28
Infantile cerebral Gaucher's disease
Infantile Gaucher disease
infantile-onset ascending hereditary spastic paralysis
Infertility
inherited emphysema
Inherited human transmissible spongiform encephalopathies
inherited tendency to pressure palsies
Insley-Astley syndrome
Intermittent acute porphyria syndrome
Intestinal polyposis-cutaneous pigmentation syndrome
IP
Iron storage disorder
Isodicentric 15
Inv dup 15q11-14
Isolated deafness
Jackson-Weiss syndrome
JH
Joubert syndrome
JPLS
ALS2
juvenile amyotrophic lateral sclerosis
Juvenile gout, choreoathetosis, mental retardation syndrome
juvenile hyperuricemia syndrome
JWS
KD
Kennedy disease
Kennedy spinal and bulbar muscular atrophy
Kerasin histiocytosis
Kerasin lipoidosis
Kerasin thesaurismosis
ketotic glycinemia
ketotic hyperglycinemia
Kidney diseases
Klinefelter syndrome
Klinefelter syndrome
Kniest dysplasia
Krabbe disease
Lacunar dementia
Langer-Saldino achondrogenesis
Langer-Saldino dysplasia
Late-onset Alzheimer disease
Late-onset familial Alzheimer disease (AD2)
late-onset Krabbe disease (LOKD)
Learning Disorders
Lentiginosis, perioral
Lesch-Nyhan syndrome
Leukodystrophies
leukodystrophy with Rosenthal fibers
Leukodystrophy, spongiform
LFS
Li-Fraumeni syndrome
Lipase D deficiency
LIPD deficiency
Lipidosis, cerebroside
Lipidosis, ganglioside, infantile
Lipoid histiocytosis (kerasin type)
lipoprotein lipase deficiency, familial
Liver diseases
Lou Gehrig disease
Louis-Bar syndrome
Lynch syndrome
Lysyl-hydroxylase deficiency
Machado-Joseph disease
Male breast cancer
Male genital disorders
Male Turner syndrome
Malignant neoplasm of breast
malignant tumor of breast
Malignant tumor of urinary bladder
Mammary cancer
Marfan syndrome 15
Marker X syndrome
Martin-Bell syndrome
McCune–Albright syndrome 20 q13.2-13.3
McLeod syndrome X
MEDNIK D AP1S1
Mediterranean Anemia
Mediterranean fever, familial
Mega-epiphyseal dwarfism
Menkea syndrome
Menkes disease
Mental retardation with osteocartilaginous abnormalities
Metabolic disorders
Metatropic dwarfism, type II
Metatropic dysplasia type II
Methemoglobinemia#beta-globin type
methylmalonic acidemia
MFS
MHAM
MK
Micro syndrome 2q21.3
Microcephaly P 1q31 (ASPM)
MMA
MNK
Monosomy 1p36 syndrome
D 1p36
monosomy X
Motor neuron disease, amyotrophic lateral sclerosis
Movement disorders
Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Mucoviscidosis
Muenke syndrome
Multi-Infarct dementia
Multiple carboxylase deficiency, late-onset
Multiple hamartoma syndrome
Multiple neurofibromatosis
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myotonia atrophica
Myotonia dystrophica
myotonic dystrophy
Myxedema, congenital
Nance-Insley syndrome
Nance-Sweeney chondrodysplasia
NBIA1
Neill-Dingwall syndrome
Neuroblastoma, retinal
Neurodegeneration with brain iron accumulation type 1
Neurofibromatosis type I 17q11.2
Neurofibromatosis type II
Neurologic diseases
Neuromuscular disorders
neuronopathy, distal hereditary motor, type V
neuronopathy, distal hereditary motor, with pyramidal features
Niemann-Pick
NPA, NPB, NPC1, NPC2,
Sphingomyelin phosphodiesterase 1
SMPD1
Noack syndrome
Nonketotic hyperglycinemia
Non-neuronopathic Gaucher disease
Non-phenylketonuric hyperphenylalaninemia
nonsyndromic deafness
Noonan syndrome
Norrbottnian Gaucher disease
Ochronosis
Ochronotic arthritis
OI
Osler-Weber-Rendu disease
OSMED
osteogenesis imperfecta
Osteopsathyrosis
Osteosclerosis congenita
Oto-spondylo-megaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Oxalosis
Oxaluria, primary
pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PBGD deficiency
PCC deficiency
PCT
PDM
Pendred syndrome
Periodic disease
Periodic peritonitis
Periorificial lentiginosis syndrome
Peripheral nerve disorders
Peripheral neurofibromatosis
Peroneal muscular atrophy
peroxisomal alanine:glyoxylate aminotransferase deficiency
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylalanine hydroxylase deficiency disease
phenylketonuria
Pheochromocytoma
Pierre Robin syndrome with fetal chondrodysplasia
Pigmentary cirrhosis
PJS
PKAN
PKU
Plumboporphyria
PMA
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
polyostotic fibrous dysplasia
20 q13.2-13.3
polyposis coli
polyposis, hamartomatous intestinal
polyposis, intestinal, II
polyps-and-spots syndrome
Porphobilinogen synthase deficiency
porphyria
porphyrin disorder
PPH
PPOX deficiency
Prader-Labhart-Willi syndrome
Prader-Willi syndrome
presenile and senile dementia
primary hemochromatosis
primary hyperuricemia syndrome
primary pulmonary hypertension
primary senile degenerative dementia
prion disease
procollagen type EDS VII, mutant
progeria
Progeria-like syndrome
progeroid nanism
progressive chorea, chronic hereditary (Huntington)
progressive muscular atrophy
progressively deforming osteogenesis imperfecta with normal sclerae
PROMM
propionic acidemia
propionyl-CoA carboxylase deficiency
protein C deficiency
protein S deficiency
protoporphyria
protoporphyrinogen oxidase deficiency
proximal myotonic dystrophy
proximal myotonic myopathy
pseudo-Gaucher disease
pseudo-Ullrich-Turner syndrome
pseudoxanthoma elasticum
psychosine lipidosis
pulmonary arterial hypertension
pulmonary hypertension
PWS
PXE - pseudoxanthoma elasticum
Rb
Recklinghausen disease, nerve
Recurrent polyserositis
Retinal disorders
Retinitis pigmentosa-deafness syndrome
Retinoblastoma
Rett syndrome
RFALS type 3
Ricker syndrome
Riley-Day syndrome
Roussy-Levy syndrome
RSTS
RTS
RTT
Rubinstein-Taybi syndrome
Sack-Barabas syndrome
SADDAN
sarcoma family syndrome of Li and Fraumeni
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
SBLA syndrome
SBMA
SCD
Schwannoma, acoustic, bilateral
SCIDX1
sclerosis tuberosa
SDAT
SED congenita
SED Strudwick
SEDc
SEMD, Strudwick type
senile dementia
severe achondroplasia with developmental delay and acanthosis nigricans
Shprintzen syndrome
D 22q
sickle cell anemia D 18q
Siderius X-linked mental retardation syndrome
PD Xp11.22
skeleton-skin-brain syndrome
Skin pigmentation disorders
SMA
SMED, Strudwick type
SMED, type I
Smith-Lemli-Opitz syndrome
South-African genetic porphyria
spastic paralysis, infantile onset ascending
Speech and communication disorders
sphingolipidosis, Tay-Sachs
spinal-bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V
spinal muscular atrophy, distal, with upper limb predominance
spinocerebellar ataxia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia
spondylometaepiphyseal dysplasia congenita, Strudwick type
spondylometaphyseal dysplasia (SMD)
spondylometaphyseal dysplasia, Strudwick type
spongy degeneration of central nervous system
spongy degeneration of the brain
spongy degeneration of white matter in infancy
sporadic primary pulmonary hypertension
SSB syndrome
steely hair syndrome
Steinert disease
Steinert myotonic dystrophy syndrome
Stickler syndrome
stroke
Strudwick syndrome
subacute neuronopathic Gaucher disease
Swedish genetic porphyria
Swedish porphyria
Swiss cheese cartilage dysplasia
Tay-Sachs disease
TD - thanatophoric dwarfism
TD with straight femurs and cloverleaf skull
Telangiectasia, cerebello-oculocutaneous
Testicular feminization syndrome
tetrahydrobiopterin deficiency
TFM - testicular feminization syndrome
thalassemia intermedia
Thalassemia Major
thanatophoric dysplasia
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type
Thyroid disease
Tomaculous neuropathy
Total HPRT deficiency
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
Transmissible dementias
Transmissible spongiform encephalopathies
Treacher Collins syndrome 5q32-q33.1
Trias fragilitis ossium
triple X syndrome
Triplo X syndrome
Trisomy 21
Trisomy X
Troisier-Hanot-Chauffard syndrome
TS
TSD
TSEs
tuberose sclerosis
tuberous sclerosis
Turner syndrome
Turner syndrome in female with X chromosome
Turner's phenotype, karyotype normal
Turner's syndrome
Turner-like syndrome
Type 2 Gaucher disease
Type 3 Gaucher disease
UDP-galactose-4-epimerase deficiency disease
UDP glucose 4-epimerase deficiency disease
UDP glucose hexose-1-phosphate uridylyltransferase deficiency
Ullrich-Noonan syndrome
Ullrich-Turner syndrome
Undifferentiated deafness
UPS deficiency
Urinary bladder cancer
UROD deficiency
Uroporphyrinogen decarboxylase deficiency
Uroporphyrinogen synthase deficiency
UROS deficiency
Usher syndrome
UTP hexose-1-phosphate uridylyltransferase deficiency
Van Bogaert-Bertrand syndrome
Van der Hoeve syndrome
variegate porphyria
Velocardiofacial syndrome
D 22q
VHL syndrome
Vision impairment and blindness
Von Bogaert-Bertrand disease
von Hippel-Lindau disease
Von Recklenhausen-Applebaum disease
von Recklinghausen disease
VP
Vrolik disease
Waardenburg syndrome
Warburg Sjo Fledelius Syndrome
2q21.3
WD
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Wilson's disease
Wolf–Hirschhorn syndrome D 4p
Wolff Periodic disease
WZS
Xeroderma pigmentosum ERCC4 15
X-linked mental retardation and macroorchidism
X-linked primary hyperuricemia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked spinal-bulbar muscle atrophy
X-linked uric aciduria enzyme defect
X-SCID
XLSA
XSCID
XXX syndrome
XXXX syndrome
XXXXX syndrome
XXY syndrome
XXY trisomy
XYY karyotype
XYY syndrome
YY syndrome

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