1p36 deletion syndrome
|
D
|
1p36
|
18p deletion syndrome
|
D
|
18p
|
21-hydroxylase deficiency
|
|
6p21.3
|
45,X see Turner syndrome
|
C
|
X
|
47,XX,+21 see Down syndrome
|
C
|
21
|
47,XXX see triple X syndrome
|
C
|
X
|
47,XXY see Klinefelter's syndrome
|
C
|
X
|
47,XY,+21 see Down syndrome
|
C
|
21
|
47,XYY syndrome
|
C
|
Y
|
5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency
|
|
|
5-aminolaevulinic dehydratase deficiency porphyria see ALA dehydratase deficiency
|
|
|
5p deletion syndrome see Cri du chat
|
D
|
5p
|
5p- syndrome see Cri du chat
|
D
|
5p
|
A-T see ataxia telangiectasia
|
|
|
AAT see alpha 1-antitrypsin deficiency
|
|
|
Absence of vas deferens see congenital absence of the vas deferens
|
|
|
Absent vasa see congenital absence of the vas deferens
|
|
|
aceruloplasminemia
|
|
|
ACG2 see achondrogenesis type II
|
|
|
ACH see achondroplasia
|
|
|
Achondrogenesis type II
|
|
|
achondroplasia
|
substitution
|
4p16.3
|
Acid beta-glucosidase deficiency see Gaucher disease type 1
|
|
|
Acrocephalosyndactyly (Apert) see Apert syndrome
|
|
|
acrocephalosyndactyly, type V see Pfeiffer syndrome
|
|
|
Acrocephaly see Apert syndrome
|
|
|
Acute cerebral Gaucher's disease see Gaucher disease type 2
|
|
|
acute intermittent porphyria
|
|
|
ACY2 deficiency see Canavan disease
|
|
|
AD see Alzheimer's disease
|
|
|
Adelaide-type craniosynostosis see Muenke syndrome
|
|
|
Adenomatous Polyposis Coli see familial adenomatous polyposis
|
|
|
Adenomatous Polyposis of the Colon see familial adenomatous polyposis
|
|
|
ADP see ALA dehydratase deficiency
|
|
|
adenylosuccinate lyase deficiency
|
|
|
Adrenal gland disorders see 21-hydroxylase deficiency
|
|
|
Adrenogenital syndrome see 21-hydroxylase deficiency
|
|
|
Adrenoleukodystrophy
|
|
|
AIP see acute intermittent porphyria
|
|
|
AIS see androgen insensitivity syndrome
|
|
|
AKU see alkaptonuria
|
|
|
ALA dehydratase porphyria see ALA dehydratase deficiency
|
|
|
ALA-D porphyria see ALA dehydratase deficiency
|
|
|
ALA dehydratase deficiency
|
|
|
Alcaptonuria see alkaptonuria
|
|
|
Alexander disease
|
|
|
alkaptonuria
|
|
|
Alkaptonuric ochronosis see alkaptonuria
|
|
|
alpha 1-antitrypsin deficiency
|
|
|
alpha-1 proteinase inhibitor see alpha 1-antitrypsin deficiency
|
|
14q32.1
|
alpha-1 related emphysema see alpha 1-antitrypsin deficiency
|
|
14q32.1
|
Alpha-galactosidase A deficiency see Fabry disease
|
P
|
Xq22.1
|
ALS see amyotrophic lateral sclerosis
|
|
|
Alström syndrome
|
|
|
ALX see Alexander disease
|
|
|
Alzheimer's disease
|
|
|
Amelogenesis imperfecta
|
|
|
Amino levulinic acid dehydratase deficiency see ALA dehydratase deficiency
|
|
|
Aminoacylase 2 deficiency see Canavan disease
|
|
|
amyotrophic lateral sclerosis
|
|
|
Anderson-Fabry disease see Fabry disease
|
P
|
Xq22.1
|
androgen insensitivity syndrome
|
|
|
Anemia
|
|
|
Anemia, hereditary sideroblastic see X-linked sideroblastic anemia
|
|
X
|
Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia
|
|
X
|
Anemia, splenic, familial see Gaucher disease
|
|
|
Angelman syndrome
|
|
|
Angiokeratoma Corporis Diffusum see Fabry disease
|
P
|
Xq22.1
|
Angiokeratoma diffuse see Fabry disease
|
|
|
Angiomatosis retinae see von Hippel–Lindau disease
|
|
|
ANH1 see X-linked sideroblastic anemia
|
|
X
|
APC resistance, Leiden type see factor V Leiden thrombophilia
|
|
|
Apert syndrome
|
|
|
AR deficiency see androgen insensitivity syndrome
|
|
|
AR-CMT2 see Charcot-Marie-Tooth disease, type 2
|
|
|
Arachnodactyly see Marfan syndrome
|
|
|
ARNSHL see Nonsyndromic deafness#autosomal recessive
|
|
|
Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome#COL2A1
|
|
|
Arthrochalasis multiplex congenita see Ehlers–Danlos syndrome#arthrochalasia type
|
|
|
AS see Angelman syndrome
|
|
|
Asp deficiency see Canavan disease
|
|
|
Aspa deficiency see Canavan disease
|
|
|
Aspartoacylase deficiency see Canavan disease
|
|
|
ataxia telangiectasia
|
|
|
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome
|
|
|
autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4
|
|
|
Autosomal dominant opitz G/BBB syndrome see 22q11.2 deletion syndrome
|
D
|
22q
|
autosomal recessive form of juvenile ALS type 3 see Amyotrophic lateral sclerosis#type 2
|
|
|
Autosomal recessive nonsyndromic hearing loss see Nonsyndromic deafness#autosomal recessive
|
|
|
Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
|
|
|
AxD see Alexander disease
|
|
|
Ayerza syndrome see primary pulmonary hypertension
|
|
|
B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease
|
|
|
BANF see neurofibromatosis type II
|
|
|
Beare-Stevenson cutis gyrata syndrome
|
|
10q26
|
Benign paroxysmal peritonitis see Mediterranean fever, familial
|
|
|
Benjamin syndrome
|
|
|
beta-thalassemia
|
|
|
BH4 Deficiency see tetrahydrobiopterin deficiency
|
|
|
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type II
|
|
|
biotinidase deficiency
|
|
|
bladder cancer
|
|
|
Bleeding disorders see factor V Leiden thrombophilia
|
|
|
Bloch-Sulzberger syndrome see incontinentia pigmenti
|
|
|
Bloom syndrome
|
|
15q26.1
|
Bone diseases
|
|
|
Bone marrow diseases see X-linked sideroblastic anemia
|
|
|
Bonnevie-Ullrich syndrome see Turner syndrome
|
|
|
Bourneville disease see tuberous sclerosis
|
|
|
Bourneville phakomatosis see tuberous sclerosis
|
|
|
Brain diseases see prion disease
|
|
|
breast cancer
|
|
|
Birt–Hogg–Dubé syndrome
|
|
17
|
Brittle bone disease see osteogenesis imperfecta
|
|
|
Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome
|
|
|
Bronze Diabetes see hemochromatosis
|
|
|
Bronzed cirrhosis see hemochromatosis
|
|
|
Bulbospinal muscular atrophy, X-linked see Kennedy's disease
|
|
|
Burger-Grutz syndrome see lipoprotein lipase deficiency, familial
|
|
|
CADASIL syndrome
|
P
|
3
|
CGD Chronic granulomatous disorder
|
|
|
Campomelic dysplasia
|
C
|
17q24.3-q25.1
|
Canavan disease
|
|
|
Cancer
|
|
|
Cancer Family syndrome see hereditary nonpolyposis colorectal cancer
|
|
|
Cancer of breast see breast cancer [1]
|
|
|
Cancer of the bladder see bladder cancer
|
|
|
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
|
P
|
3
|
Cardiomyopathy see Noonan syndrome
|
|
|
Cat cry syndrome see Cri du chat
|
|
|
CAVD see congenital absence of the vas deferens
|
|
|
Caylor cardiofacial syndrome see 22q11.2 deletion syndrome
|
D
|
22q
|
CBAVD see congenital absence of the vas deferens
|
|
|
Celiac Disease
|
|
|
CEP see congenital erythropoietic porphyria
|
|
|
Ceramide trihexosidase deficiency see Fabry disease
|
|
X
|
Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease
|
P
|
3 (p26-p25)
|
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome
|
P
|
3
|
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome
|
P
|
3
|
Cerebral sclerosis see tuberous sclerosis
|
|
9 (q34), 16 (p13.3)
|
Cerebroatrophic Hyperammonemia see Rett syndrome
|
|
X
|
Cerebroside Lipidosis syndrome see Gaucher disease
|
P
|
1(q21)
|
CF see cystic fibrosis [2]
|
D (most common); or substitution
|
CFTR (7q31.2)
|
CH see congenital hypothyroidism
|
|
|
Charcot disease see amyotrophic lateral sclerosis
|
|
|
Charcot-Marie-Tooth disease
|
|
|
Chondrodystrophia see achondroplasia
|
|
|
Chondrodystrophy syndrome see achondroplasia
|
|
|
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
|
|
|
Chondrogenesis imperfecta see achondrogenesis, type II
|
|
|
Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome
|
P
|
X
|
Classic Galactosemia see galactosemia
|
P
|
9 (p13)
|
Classical Ehlers–Danlos syndrome see Ehlers–Danlos syndrome#classical type
|
|
|
Classical Phenylketonuria see phenylketonuria
|
|
|
Cleft lip and palate see Stickler syndrome
|
|
|
Cloverleaf skull with thanatophoric dwarfism see Thanatophoric dysplasia#type 2
|
|
|
CLS see Coffin-Lowry syndrome
|
|
|
CMT see Charcot-Marie-Tooth disease
|
|
|
Cockayne syndrome
|
|
|
Coffin-Lowry syndrome
|
|
|
collagenopathy, types II and XI
|
|
|
Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer
|
|
|
Colon cancer, familial see familial adenomatous polyposis
|
|
|
Colorectal cancer [3]
|
|
|
Complete HPRT deficiency see Lesch-Nyhan syndrome
|
|
|
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
|
|
|
Compression neuropathy see hereditary neuropathy with liability to pressure palsies
|
|
|
Congenital adrenal hyperplasia see 21-hydroxylase deficiency
|
|
|
congenital bilateral absence of vas deferens see Congenital absence of the vas deferens
|
|
|
Congenital erythropoietic porphyria
|
|
|
Congenital heart disease
|
|
|
Congenital hypomyelination see Charcot-Marie-Tooth disease#Type 1see Charcot-Marie-Tooth disease#Type 4
|
|
|
Congenital hypothyroidism
|
|
|
Congenital methemoglobinemia see Methemoglobinemia#Congenital methaemoglobinaemia
|
|
|
Congenital osteosclerosis see achondroplasia
|
|
|
Congenital sideroblastic anaemia see X-linked sideroblastic anemia
|
|
X
|
Connective tissue disease
|
|
|
Conotruncal anomaly face syndrome see 22q11.2 deletion syndrome
|
D
|
22q
|
Cooley's Anemia see beta-thalassemia
|
|
|
Copper storage disease see Wilson's disease
|
|
13 (q14.3)
|
Copper transport disease see Menkes disease
|
|
|
Coproporphyria, hereditary see hereditary coproporphyria
|
|
|
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria
|
|
|
Cowden syndrome
|
|
|
CPO deficiency see hereditary coproporphyria
|
|
|
CPRO deficiency see hereditary coproporphyria
|
|
|
CPX deficiency see hereditary coproporphyria
|
|
|
Craniofacial dysarthrosis see Crouzon syndrome
|
|
|
Craniofacial Dysostosis see Crouzon syndrome
|
|
|
Cretinism see congenital hypothyroidism
|
|
|
Creutzfeldt-Jakob disease see prion disease
|
|
|
Cri du chat
|
D
|
5p
|
Crohn's disease, fibrostenosing
|
P
|
16q12
|
Crouzon syndrome
|
|
FGFR2 (10q25.3-q26)
|
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
|
|
|
Crouzonodermoskeletal syndrome
|
|
|
CS see Cockayne syndrome see Cowden syndrome
|
|
|
Curschmann-Batten-Steinert syndrome see myotonic dystrophy
|
|
|
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
|
|
|
D-glycerate dehydrogenase deficiency see hyperoxaluria, primary
|
|
|
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
DAT - Dementia Alzheimer's type see Alzheimer's disease
|
|
|
Genetic hypercalciuria see Dent's disease
|
|
Xp11.22
|
DBMD see muscular dystrophy, Duchenne and Becker types
|
|
|
Deafness with goiter see Pendred syndrome
|
|
|
Deafness-retinitis pigmentosa syndrome see Usher syndrome
|
|
|
Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria
|
P
|
12q
|
Degenerative nerve diseases
|
|
|
de Grouchy syndrome 1 see De Grouchy syndrome
|
D
|
18p
|
Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease
|
|
|
Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency
|
|
|
Dementia see CADASIL syndrome
|
|
|
demyelinogenic leukodystrophy see Alexander disease
|
|
|
Dermatosparactic type of Ehlers–Danlos syndrome see Ehlers–Danlos syndrome#dermatosparaxis type
|
|
|
Dermatosparaxis see Ehlers–Danlos syndrome#dermatosparaxis type
|
|
|
developmental disabilities
|
|
|
dHMN see Amyotrophic lateral sclerosis#type 4
|
|
|
DHMN-V see distal spinal muscular atrophy, type V
|
|
|
DHTR deficiency see androgen insensitivity syndrome
|
|
X
|
Diffuse Globoid Body Sclerosis see Krabbe disease
|
|
|
Di George's syndrome
|
D
|
22q
|
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
|
|
X
|
distal spinal muscular atrophy, type V
|
|
|
DM1 see Myotonic dystrophy#type 1
|
T
|
19
|
DM2 see Myotonic dystrophy#type 2
|
T
|
3
|
Down syndrome
|
|
21
|
DSMAV see distal spinal muscular atrophy, type V
|
|
|
DSN see Charcot-Marie-Tooth disease#type 4
|
|
|
DSS see Charcot-Marie-Tooth disease, type 4
|
|
|
Duchenne/Becker muscular dystrophy see Muscular dystrophy, Duchenne and Becker type
|
|
|
Dwarf, achondroplastic see achondroplasia
|
|
3
|
Dwarf, thanatophoric see thanatophoric dysplasia
|
|
|
Dwarfism
|
|
|
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
|
|
|
dysmyelinogenic leukodystrophy see Alexander disease
|
|
|
Dystrophia myotonica see myotonic dystrophy
|
T
|
19
|
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
|
|
|
Early-Onset familial alzheimer disease (EOFAD) see Alzheimer disease#type 1see Alzheimer disease#type 3see Alzheimer disease#type 4
|
|
|
EDS see Ehlers–Danlos syndrome
|
|
|
Ehlers–Danlos syndrome
|
|
|
Ekman-Lobstein disease see osteogenesis imperfecta
|
|
|
Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
|
|
|
Epiloia see tuberous sclerosis
|
|
|
EPP see erythropoietic protoporphyria
|
|
|
Erythroblastic anemia see beta-thalassemia
|
|
|
Erythrohepatic protoporphyria see erythropoietic protoporphyria
|
|
|
Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia
|
|
|
Erythropoietic porphyria see congenital erythropoietic porphyria
|
|
|
erythropoietic protoporphyria
|
|
|
Erythropoietic uroporphyria see congenital erythropoietic porphyria
|
|
|
Eye cancer see retinoblastoma FA - Friedreich ataxiasee Friedreich's ataxia
|
|
|
FA see fanconi anemia
|
|
|
Fabry disease
|
P
|
Xq22.1
|
Facial injuries and disorders
|
|
|
factor V Leiden thrombophilia
|
|
|
FALS see amyotrophic lateral sclerosis
|
|
|
familial acoustic neuroma see neurofibromatosis type II
|
|
|
familial adenomatous polyposis
|
|
|
familial Alzheimer disease (FAD) see Alzheimer's disease
|
|
|
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
|
|
|
familial dysautonomia
|
|
|
familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial
|
|
|
familial hemochromatosis see hemochromatosis
|
|
|
familial LPL deficiency see lipoprotein lipase deficiency, familial
|
|
|
familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer
|
|
|
familial paroxysmal polyserositis see Mediterranean fever, familial
|
|
|
familial PCT see porphyria cutanea tarda
|
|
|
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
|
|
|
familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension
|
|
|
Familial Turner syndrome see Noonan syndrome
|
|
|
familial vascular leukoencephalopathy see CADASIL syndrome
|
|
|
FAP see familial adenomatous polyposis
|
|
|
FD see familial dysautonomia
|
|
|
Female pseudo-Turner syndrome see Noonan syndrome
|
|
|
Ferrochelatase deficiency see erythropoietic protoporphyria
|
|
|
ferroportin disease see Haemochromatosis#type 4
|
|
|
Fever see Mediterranean fever, familial
|
|
|
FG syndrome
|
|
|
FGFR3-associated coronal synostosis see Muenke syndrome
|
|
|
Fibrinoid degeneration of astrocytes see Alexander disease
|
|
|
Fibrocystic disease of the pancreas see cystic fibrosis
|
|
|
FMF see Mediterranean fever, familial
|
|
|
Folling disease see phenylketonuria
|
|
|
fra(X) syndrome see fragile X syndrome
|
|
Xq27.3
|
fragile X syndrome
|
|
Xq27.3
|
Fragilitas ossium see osteogenesis imperfecta
|
|
|
FRAXA syndrome see fragile X syndrome
|
|
Xq27.3
|
FRDA see Friedreich's ataxia
|
|
|
Friedreich's ataxia see Friedreich's ataxia
|
|
|
Friedreich's ataxia
|
|
|
FXS see fragile X syndrome
|
|
Xq27.3
|
G6PD deficiency
|
|
|
Galactokinase deficiency disease see galactosemia
|
|
|
Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia
|
|
|
galactosemia
|
|
|
Galactosylceramidase deficiency disease see Krabbe disease
|
|
|
Galactosylceramide lipidosis see Krabbe disease
|
|
|
galactosylcerebrosidase deficiency see Krabbe disease
|
|
|
galactosylsphingosine lipidosis see Krabbe disease
|
|
|
GALC deficiency see Krabbe disease
|
|
|
GALT deficiency see galactosemia
|
|
|
Gaucher disease
|
|
|
Gaucher-like disease see pseudo-Gaucher disease
|
|
|
GBA deficiency see Gaucher disease type 1
|
|
|
GD see Gaucher's disease
|
|
|
Genetic brain disorders
|
|
|
genetic emphysema see alpha 1-antitrypsin deficiency
|
|
|
genetic hemochromatosis see hemochromatosis
|
|
|
Giant cell hepatitis, neonatal see Neonatal hemochromatosis
|
|
|
GLA deficiency see Fabry disease
|
|
|
Glioblastoma, retinal see retinoblastoma
|
|
|
Glioma, retinal see retinoblastoma
|
|
|
globoid cell leukodystrophy (GCL, GLD) see Krabbe disease
|
|
|
globoid cell leukoencephalopathy see Krabbe disease
|
|
|
Glucocerebrosidase deficiency see Gaucher disease
|
|
|
Glucocerebrosidosis see Gaucher disease
|
|
|
Glucosyl cerebroside lipidosis see Gaucher disease
|
|
|
Glucosylceramidase deficiency see Gaucher disease
|
|
|
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
|
|
|
Glucosylceramide lipidosis see Gaucher disease
|
|
|
Glyceric aciduria see hyperoxaluria, primary
|
|
|
Glycine encephalopathy see Nonketotic hyperglycinemia
|
|
|
Glycolic aciduria see hyperoxaluria, primary
|
|
|
GM2 gangliosidosis, type 1 see Tay-Sachs disease
|
|
|
Goiter-deafness syndrome see Pendred syndrome
|
|
|
Graefe-Usher syndrome see Usher syndrome
|
|
|
Gronblad-Strandberg syndrome see pseudoxanthoma elasticum
|
|
|
Guenther porphyria see congenital erythropoietic porphyria
|
|
|
Gunther disease see congenital erythropoietic porphyria
|
|
|
Haemochromatosis see hemochromatosis
|
|
|
Hallgren syndrome see Usher syndrome
|
|
|
Harlequin type ichthyosis
|
|
|
Hb S disease see sickle cell anemia
|
|
|
HCH see hypochondroplasia
|
|
|
HCP see hereditary coproporphyria
|
|
|
Head and brain malformations
|
|
|
Hearing disorders and deafness
|
|
|
Hearing problems in children
|
|
|
HEF2A see hemochromatosis#type 2
|
|
|
HEF2B see hemochromatosis#type 2
|
|
|
Hematoporphyria see porphyria
|
|
|
Heme synthetase deficiency see erythropoietic protoporphyria
|
|
|
Hemochromatoses see hemochromatosis
|
|
|
hemochromatosis
|
|
|
hemoglobin M disease see methemoglobinemia#beta-globin type
|
|
|
Hemoglobin S disease see sickle cell anemia
|
|
|
hemophilia
|
|
|
HEP see hepatoerythropoietic porphyria
|
|
|
hepatic AGT deficiency see hyperoxaluria, primary
|
|
|
hepatoerythropoietic porphyria
|
|
|
Hepatolenticular degeneration syndrome see Wilson disease
|
|
|
Hereditary arthro-ophthalmopathy see Stickler syndrome
|
|
|
Hereditary coproporphyria
|
P
|
3q12
|
Hereditary dystopic lipidosis see Fabry disease
|
|
|
Hereditary hemochromatosis (HHC) see hemochromatosis [4]
|
|
|
Hereditary hemorrhagic telangiectasia (HHT)
|
|
|
Hereditary Inclusion Body Myopathy see skeletal muscle regeneration
|
|
|
Hereditary iron-loading anemia see X-linked sideroblastic anemia
|
|
|
Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
|
|
|
Hereditary motor neuronopathy see spinal muscular atrophy
|
|
|
Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, 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 see Mediterranean fever, familial
|
|
|
Hereditary Polyposis Coli see familial adenomatous polyposis
|
|
|
Hereditary pulmonary emphysema see alpha 1-antitrypsin deficiency
|
|
|
Hereditary resistance to activated protein C see factor V Leiden thrombophilia
|
|
|
Hereditary sensory and autonomic neuropathy type III see familial dysautonomia
|
|
|
Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis
|
|
|
Hereditary spinal ataxia see Friedreich's ataxia
|
|
|
Hereditary spinal sclerosis see Friedreich's ataxia
|
|
|
Herrick's anemia see sickle cell anemia
|
|
|
Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
|
|
|
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
|
|
|
HexA deficiency see Tay-Sachs disease
|
|
|
Hexosaminidase A deficiency see Tay-Sachs disease
|
|
|
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
|
|
|
HFE-associated hemochromatosis see hemochromatosis
|
|
|
HGPS see Progeria
|
|
|
Hippel-Lindau disease see von Hippel-Lindau disease
|
|
|
HLAH see hemochromatosis
|
|
|
HMN V see distal spinal muscular atrophy, type V
|
|
|
HMSN see Charcot-Marie-Tooth disease
|
|
|
HNPCC see hereditary nonpolyposis colorectal cancer
|
|
|
HNPP see hereditary neuropathy with liability to pressure palsies
|
|
|
homocystinuria
|
|
|
Homogentisic acid oxidase deficiency see alkaptonuria
|
|
|
Homogentisic acidura see alkaptonuria
|
|
|
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria
|
|
|
HP1 see hyperoxaluria, primary
|
|
|
HP2 see hyperoxaluria, primary
|
|
|
HPA see hyperphenylalaninemia
|
|
|
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
|
|
|
HSAN type III see familial dysautonomia
|
|
|
HSAN3 see familial dysautonomia
|
|
|
HSN-III see familial dysautonomia
|
|
|
Human dermatosparaxis see Ehlers–Danlos syndrome#dermatosparaxis type
|
|
|
Huntington's disease
|
T
|
4p16.3
|
Hutchinson-Gilford progeria syndrome see progeria
|
|
|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
|
|
|
Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial
|
|
|
Hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
|
|
|
Hyperlipoproteinemia type I see lipoprotein lipase deficiency, familial
|
|
|
hyperoxaluria, primary
|
|
|
hyperphenylalaninaemia see hyperphenylalaninemia
|
|
|
hyperphenylalaninemia
|
|
|
Hypochondrodysplasia see hypochondroplasia
|
|
|
Hypochondrogenesis
|
|
|
Hypochondroplasia
|
|
4p16.3
|
Hypochromic anemia see X-linked sideroblastic anemia
|
|
|
Hypocupremia, congenital see Menkes disease
|
|
|
Hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome
|
|
|
IAHSP see infantile-onset ascending hereditary spastic paralysis
|
|
|
ICF syndrome see Immunodeficiency, centromere instability and facial anomalies syndrome
|
|
20q11.2
|
Idiopathic hemochromatosis see hemochromatosis, type 3
|
|
|
Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal
|
|
|
Idiopathic pulmonary hypertension see primary pulmonary hypertension
|
|
|
Immune system disorders see X-linked severe combined immunodeficiency
|
|
|
Incontinentia pigmenti
|
P
|
Xq28
|
Infantile cerebral Gaucher's disease see Gaucher disease type 2
|
|
|
Infantile Gaucher disease see Gaucher disease type 2
|
|
|
infantile-onset ascending hereditary spastic paralysis
|
|
|
Infertility
|
|
|
inherited emphysema see alpha 1-antitrypsin deficiency
|
|
|
Inherited human transmissible spongiform encephalopathies see prion disease
|
|
|
inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
|
|
|
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
|
|
|
Intermittent acute porphyria syndrome see acute intermittent porphyria
|
|
|
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz–Jeghers syndrome
|
|
|
IP see incontinentia pigmenti
|
|
|
Iron storage disorder see hemochromatosis
|
|
|
Isodicentric 15 see isodicentric 15
|
Inv dup
|
15q11-14
|
Isolated deafness see nonsyndromic deafness
|
|
|
Jackson-Weiss syndrome
|
|
|
JH see Haemochromatosis#type 2
|
|
|
Joubert syndrome
|
|
|
JPLS see Juvenile Primary Lateral Sclerosis
|
|
ALS2
|
juvenile amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis#type 2
|
|
|
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
|
|
|
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
|
|
|
JWS see Jackson-Weiss syndrome
|
|
|
KD see X-linked spinal-bulbar muscle atrophy
|
|
|
Kennedy disease see X-linked spinal-bulbar muscle atrophy
|
|
|
Kennedy spinal and bulbar muscular atrophy see X-linked spinal-bulbar muscle atrophy
|
|
|
Kerasin histiocytosis see Gaucher disease
|
|
|
Kerasin lipoidosis see Gaucher disease
|
|
|
Kerasin thesaurismosis see Gaucher disease
|
|
|
ketotic glycinemia see propionic acidemia
|
|
|
ketotic hyperglycinemia see propionic acidemia
|
|
|
Kidney diseases see hyperoxaluria, primary
|
|
|
Klinefelter's syndrome
|
|
|
Klinefelter's syndrome see Klinefelter's syndrome
|
|
|
Kniest dysplasia
|
|
|
Krabbe disease
|
|
|
Lacunar dementia see CADASIL syndrome
|
|
|
Langer-Saldino achondrogenesis see achondrogenesis, type II
|
|
|
Langer-Saldino dysplasia see achondrogenesis, type II
|
|
|
Late-onset Alzheimer disease see Alzheimer disease#type 2
|
|
|
Late-onset familial Alzheimer disease (AD2) see Alzheimer disease#type 2
|
|
|
late-onset Krabbe disease (LOKD) see Krabbe disease
|
|
|
Learning Disorders see Learning disability
|
|
|
Lentiginosis, perioral see Peutz-Jeghers syndrome
|
|
|
Lesch-Nyhan syndrome
|
|
|
Leukodystrophies
|
|
|
leukodystrophy with Rosenthal fibers see Alexander disease
|
|
|
Leukodystrophy, spongiform see Canavan disease
|
|
|
LFS see Li-Fraumeni syndrome
|
|
|
Li-Fraumeni syndrome
|
|
|
Lipase D deficiency see lipoprotein lipase deficiency, familial
|
|
|
LIPD deficiency see lipoprotein lipase deficiency, familial
|
|
|
Lipidosis, cerebroside see Gaucher disease
|
|
|
Lipidosis, ganglioside, infantile see Tay-Sachs disease
|
|
|
Lipoid histiocytosis (kerasin type) see Gaucher disease
|
|
|
lipoprotein lipase deficiency, familial
|
|
|
Liver diseases see galactosemia
|
|
|
Lou Gehrig disease see amyotrophic lateral sclerosis
|
|
|
Louis-Bar syndrome see ataxia telangiectasia
|
|
|
Lynch syndrome see hereditary nonpolyposis colorectal cancer
|
|
|
Lysyl-hydroxylase deficiency see Ehlers–Danlos syndrome#kyphoscoliosis type
|
|
|
Machado-Joseph disease see Spinocerebellar ataxia#type 3
|
|
|
Male breast cancer see breast cancer
|
|
|
Male genital disorders
|
|
|
Male Turner syndrome see Noonan syndrome
|
|
|
Malignant neoplasm of breast see breast cancer
|
|
|
malignant tumor of breast see breast cancer
|
|
|
Malignant tumor of urinary bladder see bladder cancer
|
|
|
Mammary cancer see breast cancer
|
|
|
Marfan syndrome
|
|
15
|
Marker X syndrome see fragile X syndrome
|
|
|
Martin-Bell syndrome see fragile X syndrome
|
|
|
McCune–Albright syndrome
|
|
20 q13.2-13.3
|
McLeod syndrome
|
|
X
|
MEDNIK [5]
|
D
|
AP1S1
|
Mediterranean Anemia see beta-thalassemia
|
|
|
Mediterranean fever, familial
|
|
|
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
|
|
|
Menkea syndrome see Menkes disease
|
|
|
Menkes disease
|
|
|
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
|
|
|
Metabolic disorders
|
|
|
Metatropic dwarfism, type II see Kniest dysplasia
|
|
|
Metatropic dysplasia type II see Kniest dysplasia
|
|
|
Methemoglobinemia#beta-globin type
|
|
|
methylmalonic acidemia
|
|
|
MFS see Marfan syndrome
|
|
|
MHAM see Cowden syndrome
|
|
|
MK see Menkes disease
|
|
|
Micro syndrome
|
|
2q21.3
|
Microcephaly
|
P
|
1q31 (ASPM)
|
MMA see methylmalonic acidemia
|
|
|
MNK see Menkes disease
|
|
|
Monosomy 1p36 syndrome see 1p36 deletion syndrome
|
D
|
1p36
|
monosomy X see Turner syndrome
|
|
|
Motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
|
|
|
Movement disorders
|
|
|
Mowat-Wilson syndrome
|
|
|
Mucopolysaccharidosis (MPS I)
|
|
|
Mucoviscidosis see cystic fibrosis
|
|
|
Muenke syndrome
|
|
|
Multi-Infarct dementia see CADASIL syndrome
|
|
|
Multiple carboxylase deficiency, late-onset see biotinidase deficiency
|
|
|
Multiple hamartoma syndrome see Cowden syndrome
|
|
|
Multiple neurofibromatosis see neurofibromatosis
|
|
|
Muscular dystrophy
|
|
|
Muscular dystrophy, Duchenne and Becker type
|
|
|
Myotonia atrophica see myotonic dystrophy
|
|
|
Myotonia dystrophica see myotonic dystrophy
|
|
|
myotonic dystrophy
|
|
|
Myxedema, congenital see congenital hypothyroidism
|
|
|
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
|
|
|
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
|
|
|
NBIA1 see pantothenate kinase-associated neurodegeneration
|
|
|
Neill-Dingwall syndrome see Cockayne syndrome
|
|
|
Neuroblastoma, retinal see retinoblastoma
|
|
|
Neurodegeneration with brain iron accumulation type 1 see pantothenate kinase-associated neurodegeneration
|
|
|
Neurofibromatosis type I
|
|
17q11.2
|
Neurofibromatosis type II
|
|
|
Neurologic diseases
|
|
|
Neuromuscular disorders
|
|
|
neuronopathy, distal hereditary motor, type V see Distal spinal muscular atrophy#type V
|
|
|
neuronopathy, distal hereditary motor, with pyramidal features see Amyotrophic lateral sclerosis#type 4
|
|
|
Niemann-Pick see Niemann–Pick disease
|
NPA, NPB, NPC1, NPC2, Sphingomyelin phosphodiesterase 1
|
SMPD1
|
Noack syndrome see Pfeiffer syndrome
|
|
|
Nonketotic hyperglycinemia see Glycine encephalopathy
|
|
|
Non-neuronopathic Gaucher disease see Gaucher disease type 1
|
|
|
Non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency
|
|
|
nonsyndromic deafness
|
|
|
Noonan syndrome
|
|
|
Norrbottnian Gaucher disease see Gaucher disease type 3
|
|
|
Ochronosis see alkaptonuria
|
|
|
Ochronotic arthritis see alkaptonuria
|
|
|
OI see osteogenesis imperfecta
|
|
|
Osler-Weber-Rendu disease see Hereditary hemorrhagic telangiectasia
|
|
|
OSMED see otospondylomegaepiphyseal dysplasia
|
|
|
osteogenesis imperfecta
|
|
|
Osteopsathyrosis see osteogenesis imperfecta
|
|
|
Osteosclerosis congenita see achondroplasia
|
|
|
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
|
|
|
otospondylomegaepiphyseal dysplasia
|
|
|
Oxalosis see hyperoxaluria, primary
|
|
|
Oxaluria, primary see hyperoxaluria, primary
|
|
|
pantothenate kinase-associated neurodegeneration
|
|
|
Patau Syndrome (Trisomy 13)
|
|
|
PBGD deficiency see acute intermittent porphyria
|
|
|
PCC deficiency see propionic acidemia
|
|
|
PCT see porphyria cutanea tarda
|
|
|
PDM see Myotonic dystrophy#type 2
|
|
|
Pendred syndrome
|
|
|
Periodic disease see Mediterranean fever, familial
|
|
|
Periodic peritonitis see Mediterranean fever, familial
|
|
|
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
|
|
|
Peripheral nerve disorders see familial dysautonomia
|
|
|
Peripheral neurofibromatosis see neurofibromatosis type I
|
|
|
Peroneal muscular atrophy see Charcot-Marie-Tooth disease
|
|
|
peroxisomal alanine:glyoxylate aminotransferase deficiency see hyperoxaluria, primary
|
|
|
Peutz-Jeghers syndrome
|
|
|
Pfeiffer syndrome
|
|
|
Phenylalanine hydroxylase deficiency disease see phenylketonuria
|
|
|
phenylketonuria
|
|
|
Pheochromocytoma see von Hippel-Lindau disease
|
|
|
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
|
|
|
Pigmentary cirrhosis see hemochromatosis
|
|
|
PJS see Peutz-Jeghers syndrome
|
|
|
PKAN see pantothenate kinase-associated neurodegeneration
|
|
|
PKU see phenylketonuria
|
|
|
Plumboporphyria see ALA deficiency porphyria
|
|
|
PMA see Charcot-Marie-tooth disease
|
|
|
Polycystic kidney disease
|
P
|
16 (PKD1) or 4 (PKD2)
|
polyostotic fibrous dysplasia see McCune–Albright syndrome
|
|
20 q13.2-13.3
|
polyposis coli see familial adenomatous polyposis
|
|
|
polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
|
|
|
polyposis, intestinal, II see Peutz-Jeghers syndrome
|
|
|
polyps-and-spots syndrome see Peutz-Jeghers syndrome
|
|
|
Porphobilinogen synthase deficiency see ALA deficiency porphyria
|
|
|
porphyria
|
|
|
porphyrin disorder see porphyria
|
|
|
PPH see primary pulmonary hypertension
|
|
|
PPOX deficiency see variegate porphyria
|
|
|
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
|
|
|
Prader-Willi syndrome
|
|
|
presenile and senile dementia see Alzheimer's disease
|
|
|
primary hemochromatosis see hemochromatosis
|
|
|
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
|
|
|
primary pulmonary hypertension
|
|
|
primary senile degenerative dementia see Alzheimer's disease
|
|
|
prion disease
|
|
|
procollagen type EDS VII, mutant see Ehlers–Danlos syndrome#arthrochalasia type
|
|
|
progeria see Hutchinson Gilford Progeria Syndrome
|
|
|
Progeria-like syndrome see Cockayne syndrome
|
|
|
progeroid nanism see Cockayne syndrome
|
|
|
progressive chorea, chronic hereditary (Huntington) see Huntington's disease
|
|
|
progressive muscular atrophy see spinal muscular atrophy
|
|
|
progressively deforming osteogenesis imperfecta with normal sclerae see Osteogenesis imperfecta#Type III
|
|
|
PROMM see Myotonic dystrophy#type 2
|
|
|
propionic acidemia
|
|
|
propionyl-CoA carboxylase deficiency see propionic acidemia
|
|
|
protein C deficiency
|
|
|
protein S deficiency
|
|
|
protoporphyria see erythropoietic protoporphyria
|
|
|
protoporphyrinogen oxidase deficiency see variegate porphyria
|
|
|
proximal myotonic dystrophy see Myotonic dystrophy#type 2
|
|
|
proximal myotonic myopathy see Myotonic dystrophy#type 2
|
|
|
pseudo-Gaucher disease
|
|
|
pseudo-Ullrich-Turner syndrome see Noonan syndrome
|
|
|
pseudoxanthoma elasticum
|
|
|
psychosine lipidosis see Krabbe disease
|
|
|
pulmonary arterial hypertension see primary pulmonary hypertension
|
|
|
pulmonary hypertension see primary pulmonary hypertension
|
|
|
PWS see Prader-Willi syndrome
|
|
|
PXE - pseudoxanthoma elasticum see pseudoxanthoma elasticum
|
|
|
Rb see retinoblastoma
|
|
|
Recklinghausen disease, nerve see neurofibromatosis type I
|
|
|
Recurrent polyserositis see Mediterranean fever, familial
|
|
|
Retinal disorders
|
|
|
Retinitis pigmentosa-deafness syndrome see Usher syndrome
|
|
|
Retinoblastoma
|
|
|
Rett syndrome
|
|
|
RFALS type 3 see Amyotrophic lateral sclerosis#type 2
|
|
|
Ricker syndrome see Myotonic dystrophy#type 2
|
|
|
Riley-Day syndrome see familial dysautonomia
|
|
|
Roussy-Levy syndrome see Charcot-Marie-Tooth disease
|
|
|
RSTS see Rubinstein-Taybi syndrome
|
|
|
RTS see Rett syndrome see Rubinstein-Taybi syndrome
|
|
|
RTT see Rett syndrome
|
|
|
Rubinstein-Taybi syndrome
|
|
|
Sack-Barabas syndrome see Ehlers–Danlos syndrome, vascular type
|
|
|
SADDAN
|
|
|
sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
|
|
|
sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
|
|
|
SBLA syndrome see Li-Fraumeni syndrome
|
|
|
SBMA see X-linked spinal-bulbar muscle atrophy
|
|
|
SCD see sickle cell anemia
|
|
|
Schwannoma, acoustic, bilateral see neurofibromatosis type II
|
|
|
SCIDX1 see X-linked severe combined immunodeficiency
|
|
|
sclerosis tuberosa see tuberous sclerosis
|
|
|
SDAT see Alzheimer's disease
|
|
|
SED congenita see spondyloepiphyseal dysplasia congenita
|
|
|
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
SEDc see spondyloepiphyseal dysplasia congenita
|
|
|
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
senile dementia see Alzheimer disease#type 2
|
|
|
severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
|
|
|
Shprintzen syndrome see 22q11.2 deletion syndrome
|
D
|
22q
|
sickle cell anemia
|
D
|
18q
|
Siderius X-linked mental retardation syndrome caused by mutations in the PHF8 gene
|
PD
|
Xp11.22
|
skeleton-skin-brain syndrome see SADDAN
|
|
|
Skin pigmentation disorders
|
|
|
SMA see spinal muscular atrophy
|
|
|
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
Smith-Lemli-Opitz syndrome
|
|
|
South-African genetic porphyria see variegate porphyria
|
|
|
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
|
|
|
Speech and communication disorders
|
|
|
sphingolipidosis, Tay-Sachs see Tay-Sachs disease
|
|
|
spinal-bulbar muscular atrophy
|
|
|
spinal muscular atrophy
|
|
|
spinal muscular atrophy, distal type V see Distal spinal muscular atrophy#type V
|
|
|
spinal muscular atrophy, distal, with upper limb predominance see Distal spinal muscular atrophy#type V
|
|
|
spinocerebellar ataxia
|
|
|
spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
spondyloepiphyseal dysplasia congenita
|
|
|
spondyloepiphyseal dysplasia see collagenopathy, types II and XI
|
|
|
spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
spondylometaphyseal dysplasia, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
spongy degeneration of central nervous system see Canavan disease
|
|
|
spongy degeneration of the brain see Canavan disease
|
|
|
spongy degeneration of white matter in infancy see Canavan disease
|
|
|
sporadic primary pulmonary hypertension see primary pulmonary hypertension
|
|
|
SSB syndrome see SADDAN
|
|
|
steely hair syndrome see Menkes disease
|
|
|
Steinert disease see myotonic dystrophy
|
|
|
Steinert myotonic dystrophy syndrome see myotonic dystrophy
|
|
|
Stickler syndrome
|
|
|
stroke see CADASIL syndrome
|
|
|
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
|
|
|
subacute neuronopathic Gaucher disease see Gaucher disease type 3
|
|
|
Swedish genetic porphyria see acute intermittent porphyria
|
|
|
Swedish porphyria see acute intermittent porphyria
|
|
|
Swiss cheese cartilage dysplasia see Kniest dysplasia
|
|
|
Tay-Sachs disease
|
|
|
TD - thanatophoric dwarfism see thanatophoric dysplasia
|
|
|
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia#Type 2
|
|
|
Telangiectasia, cerebello-oculocutaneous see ataxia telangiectasia
|
|
|
Testicular feminization syndrome see androgen insensitivity syndrome
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tetrahydrobiopterin deficiency
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TFM - testicular feminization syndrome see androgen insensitivity syndrome
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thalassemia intermedia see beta-thalassemia
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Thalassemia Major see beta-thalassemia
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thanatophoric dysplasia
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Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia
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Thyroid disease
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Tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
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Total HPRT deficiency see Lesch-Nyhan syndrome
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Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
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Transmissible dementias see prion disease
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Transmissible spongiform encephalopathies see prion disease
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Treacher Collins syndrome
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5q32-q33.1
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Trias fragilitis ossium see osteogenesis imperfecta#Type I
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triple X syndrome
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Triplo X syndrome see triple X syndrome
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Trisomy 21 see Down syndrome
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Trisomy X see triple X syndrome
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Troisier-Hanot-Chauffard syndrome see hemochromatosis
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TS see Turner syndrome
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TSD see Tay-Sachs disease
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TSEs see prion disease
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tuberose sclerosis see tuberous sclerosis
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tuberous sclerosis
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Turner syndrome
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Turner syndrome in female with X chromosome see Noonan syndrome
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Turner's phenotype, karyotype normal see Noonan syndrome
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Turner's syndrome see Turner syndrome
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Turner-like syndrome see Noonan syndrome
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Type 2 Gaucher disease see Gaucher disease type 2
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Type 3 Gaucher disease see Gaucher disease type 3
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UDP-galactose-4-epimerase deficiency disease see galactosemia
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UDP glucose 4-epimerase deficiency disease see galactosemia
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UDP glucose hexose-1-phosphate uridylyltransferase deficiency see galactosemia
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Ullrich-Noonan syndrome see Noonan syndrome
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Ullrich-Turner syndrome see Turner syndrome
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Undifferentiated deafness see nonsyndromic deafness
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UPS deficiency see acute intermittent porphyria
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Urinary bladder cancer see bladder cancer
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UROD deficiency see porphyria cutanea tarda
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Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda
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Uroporphyrinogen synthase deficiency see acute intermittent porphyria
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UROS deficiency see congenital erythropoietic porphyria
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Usher syndrome
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UTP hexose-1-phosphate uridylyltransferase deficiency see galactosemia
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Van Bogaert-Bertrand syndrome see Canavan disease
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Van der Hoeve syndrome see osteogenesis imperfecta#Type I
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|
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variegate porphyria
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|
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Velocardiofacial syndrome see 22q11.2 deletion syndrome
|
D
|
22q
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VHL syndrome see von Hippel-Lindau disease
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Vision impairment and blindness see Alström syndrome
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Von Bogaert-Bertrand disease see Canavan disease
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von Hippel-Lindau disease
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Von Recklenhausen-Applebaum disease see hemochromatosis
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von Recklinghausen disease see neurofibromatosis type I
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VP see variegate porphyria
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|
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Vrolik disease see osteogenesis imperfecta
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Waardenburg syndrome
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|
|
Warburg Sjo Fledelius Syndrome see Micro syndrome
|
|
2q21.3
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WD see Wilson disease
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|
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Weissenbacher-Zweymüller syndrome
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|
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Williams Syndrome
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Wilson disease
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Wilson's disease see Wilson disease
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|
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Wolf–Hirschhorn syndrome
|
D
|
4p
|
Wolff Periodic disease see Mediterranean fever, familial
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|
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WZS see Weissenbacher-Zweymüller syndrome
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|
|
Xeroderma pigmentosum
|
ERCC4
|
15
|
X-linked mental retardation and macroorchidism see fragile X syndrome
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|
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X-linked primary hyperuricemia see Lesch-Nyhan syndrome
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|
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X-linked severe combined immunodeficiency
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|
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X-linked sideroblastic anemia
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|
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X-linked spinal-bulbar muscle atrophy see Kennedy's disease
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X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
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X-SCID see X-linked severe combined immunodeficiency
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XLSA see X-linked sideroblastic anemia
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|
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XSCID see X-linked severe combined immunodeficiency
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XXX syndrome see triple X syndrome
|
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XXXX syndrome see 48, XXXX
|
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XXXXX syndrome see 49, XXXXX
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XXY syndrome see Klinefelter's syndrome
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XXY trisomy see Klinefelter's syndrome
|
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XYY karyotype see 47,XYY syndrome
|
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XYY syndrome see 47,XYY syndrome
|
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YY syndrome see 47,XYY syndrome
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