GENETIC DISORDERS, DISEASES & CONDITIONS

Understand Genetics
Genetic Testing
A-Z of Gene Symbols
Genetic diseases & conditions by category

A

A-T see ataxia-telangiectasia
AAT see alpha-1 antitrypsin deficiency
AB variant see GM2-gangliosidosis, AB variant
Absence of vas deferens see congenital bilateral absence of vas deferens
Absent vasa see congenital bilateral absence of vas deferens
ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency
ACH see achondroplasia
achondrogenesis
achondroplasia
Acoustic Neuroma see neurofibromatosis type 2
Acrocephalosyndactyly (Apert) see Apert syndrome
acrocephalosyndactyly, type V see Pfeiffer syndrome
Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
Acute cerebral Gaucher's disease see Gaucher disease, type 2
acute intermittent porphyria
ACY2 deficiency see Canavan disease
acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
AD see Alzheimer disease
Adelaide-type craniosynostosis see Muenke syndrome
Adenomatosis, Familial Endocrine see multiple endocrine neoplasia
Adenomatous Polyposis Coli see familial adenomatous polyposis
Adenomatous Polyposis of the Colon see familial adenomatous polyposis
ADP see ALAD deficiency porphyria
Adrenal Gland Disorders
Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
Adrenogenital Syndrome see 21-hydroxylase deficiency
Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
AI - Amelogenesis imperfecta see amelogenesis imperfecta
AIP see acute intermittent porphyria
AIS see androgen insensitivity syndrome
AKU see alkaptonuria
5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria
ALA-D porphyria see ALAD deficiency porphyria
ALA dehydratase porphyria see ALAD deficiency porphyria
ALAD deficiency porphyria
Alagille syndrome
Albinism, Oculocutaneous see oculocutaneous albinism
Alcaptonuria see alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis see alkaptonuria
alpha-1 antitrypsin deficiency
2-alpha-methyl-3-hydroxybutyricacidaemia see beta-ketothiolase deficiency
3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
3-alpha-ktd deficiency see beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
Alpha-galactosidase A deficiency see Fabry disease
alpha-Methylacetoacetic aciduria see beta-ketothiolase deficiency
Alport syndrome
ALS see amyotrophic lateral sclerosis
Alström syndrome
ALX see Alexander disease
Alzheimer disease
Alzheimer's Caregivers see Alzheimer disease
Alzheimer's Disease see Alzheimer disease
amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria
Aminoacylase 2 deficiency see Canavan disease
5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria
amyotrophic lateral sclerosis
Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
Andersen syndrome see Andersen-Tawil syndrome
Andersen-Tawil syndrome
Anderson-Fabry Disease see Fabry disease
Anderson-Warburg syndrome see Norrie disease
androgen insensitivity syndrome
Androgen receptor deficiency see androgen insensitivity syndrome
Androgen resistance syndrome see androgen insensitivity syndrome
androgenetic alopecia
Androgenic alopecia see androgenetic alopecia
anaemia, hereditary sideroblastic see X-linked sideroblastic anaemia
anaemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anaemia
Angelman syndrome
Angiokeratoma Corporis Diffusum see Fabry disease
Angiokeratoma diffuse see Fabry disease
Angiomatosis retinae see von Hippel-Lindau syndrome
ANH1 see X-linked sideroblastic anaemia
ankylosing spondylitis
Antiphospholipid Syndrome
AO2 see atelosteogenesis, type 2
APC resistance, Leiden type see factor V Leiden thrombophilia
Apert syndrome
AR deficiency see androgen insensitivity syndrome
Arachnodactyly see Marfan syndrome
Argininosuccinate lyase deficiency see argininosuccinic aciduria
argininosuccinic aciduria
argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria
arginosuccinase deficiency see argininosuccinic aciduria
ARNSHL see nonsyndromic deafness, autosomal recessive
Arrhythmia
arteriohepatic dysplasia (AHD) see Alagille syndrome
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
AS see Angelman syndrome
AS - Ankylosing spondylitis see ankylosing spondylitis
ASL deficiency see argininosuccinic aciduria
Asp deficiency see Canavan disease
Aspa deficiency see Canavan disease
Aspartoacylase deficiency see Canavan disease
ataxia-telangiectasia
atelosteogenesis, type 2
ATM see ataxia-telangiectasia
Atrophia bulborum hereditaria see Norrie disease
ATS see Andersen-Tawil syndrome
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome
Autoimmune Lymphoproliferative Syndrome
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
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

B variant GM2 gangliosidosis see Tay-Sachs disease
BANF see neurofibromatosis type 2
Bartholin-Patau syndrome see trisomy 13
BCKD deficiency see maple syrup urine disease
BDLS see Cornelia de Lange syndrome
Beare-Stevenson cutis gyrata syndrome
Bechterew Disease see ankylosing spondylitis
Benign paroxysmal peritonitis see familial Mediterranean fever
Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
beta-ketothiolase deficiency
beta thalassaemia
Beuren syndrome see Williams syndrome
BH4 Deficiency see tetrahydrobiopterin deficiency
BHD see Birt-Hogg-Dubé syndrome
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
Bile Duct Diseases see Alagille syndrome
biotinidase deficiency
Birt-Hogg-Dubé syndrome
bladder cancer
Bleeding Disorders see factor V Leiden thrombophilia
Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
Bloch-Siemens syndrome see incontinentia pigmenti
Bloch-Sulzberger Syndrome see incontinentia pigmenti
Blood and Blood Disorders
blue baby syndrome see methaemoglobinemia, beta-globin type
BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
Bone Cancer see Li-Fraumeni syndrome
Bone Diseases
Bonnevie-Ullrich Syndrome see Turner syndrome
Bourneville Disease see tuberous sclerosis
Bourneville Phakomatosis see tuberous sclerosis
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Brain Diseases see prion disease
Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
Branched-Chain Ketoaciduria see maple syrup urine disease
breast cancer
Breast cancer, Hereditary
Brittle bone disease see osteogenesis imperfecta
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Bronze Diabetes see haemochromatosis
Bronzed cirrhosis see haemochromatosis
Brugada syndrome
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
Burger-Grutz syndrome see familial lipoprotein lipase deficiency

C

CACT deficiency see carnitine-acylcarnitine translocase deficiency
CADASIL
Canavan disease
Cancer Family Syndrome see hereditary nonpolyposis colorectal cancer
Cancer of breast see breast cancer
Cancer of the bladder see bladder cancer
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
Cardiomyopathy
cardiovertebral syndrome see Alagille syndrome
carnitine-acylcarnitine translocase deficiency
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
Carnitine transporter deficiency see primary carnitine deficiency
carnitine uptake defect see primary carnitine deficiency
carnitine uptake deficiency see primary carnitine deficiency
Carpal Tunnel Syndrome see hereditary neuropathy with liability to pressure palsies
Cat cry syndrome see cri-du-chat syndrome
CATCH22 see 22q11.2 deletion syndrome
CAVD see congenital bilateral absence of vas deferens
CAVE complex see Pallister-Hall syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CBAVD see congenital bilateral absence of vas deferens
CDLS see Cornelia de Lange syndrome
Central Nervous System Cavernous haemangioma see cerebral cavernous malformation
CEP see congenital erythropoietic porphyria
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
Ceramide trihexosidase deficiency see Fabry disease
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL
cerebral cavernous malformation
cerebral sclerosis see tuberous sclerosis
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
Cerebroatrophic Hyperammonaemia see Rett syndrome
Cerebroside Lipidosis Syndrome see Gaucher disease
CF see cystic fibrosis
CH see congenital hypothyroidism
Charcot disease see amyotrophic lateral sclerosis
Charcot-Marie-Tooth
Charcot-Marie-Tooth disease
cholestasis with peripheral pulmonary stenosis see Alagille syndrome
Chondrodystrophia foetalis see achondroplasia
Chondrodystrophy syndrome see achondroplasia
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
Chromosome 5p- Syndrome see cri-du-chat syndrome
chromosome 13 trisomy syndrome see trisomy 13
chromosome 17p deletion syndrome see Smith-Magenis syndrome
Chronic Motor and Vocal Tic Disorder see Tourette syndrome
citrullinaemia
Citrullinuria see citrullinaemia
Classic Galactosaemia see galactosaemia
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
Classical Niemann-Pick Disease see Niemann-Pick disease
Classical Phenylketonuria see phenylketonuria
Cleft Lip and Palate
Cloverleaf skull with thanatophoric dwarfism see thanatophoric dysplasia, type 2
CLS see Coffin-Lowry syndrome
CMT see Charcot-Marie-Tooth disease
COCA 1 see hereditary nonpolyposis colorectal cancer
Cockayne syndrome
Coffin-Lowry syndrome
Colitis, Granulomatous see Crohn disease
Colon cancer
Colon cancer, familial see familial adenomatous polyposis
Colon Cancer, Familial Nonpolyposis see hereditary nonpolyposis colorectal cancer
colour vision deficiency
Colorectal Cancer
Complete HPRT deficiency see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
Complete trisomy 13 syndrome see trisomy 13
Complete trisomy 18 syndrome see trisomy 18
compression neuropathy see hereditary neuropathy with liability to pressure palsies
Congenital Adrenal Hyperplasia see 21-hydroxylase deficiency
Congenital adrenal hypoplasia see X-linked adrenal hypoplasia congenita
congenital aplasia of vas deferens, see congenital bilateral absence of vas deferens
congenital bilateral absence of vas deferens
Congenital enamel hypoplasia see amelogenesis imperfecta
congenital erythropoietic porphyria
Congenital Heart Disease
congenital hereditary hematuria see Alport syndrome
congenital hypothyroidism
congenital methaemoglobinaemia see methaemoglobinaemia, beta-globin type
Congenital osteosclerosis see achondroplasia
congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
Congenital sideroblastic anaemia see X-linked sideroblastic anaemia
Connective Tissue Disorders
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Cooley's anaemia see beta thalassaemia
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Coproporphyria, Hereditary see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria
Cornelia de Lange syndrome
Coronary Disease see Werner syndrome
Costello syndrome
Cowden syndrome
CPO deficiency see hereditary coproporphyria
CPRO deficiency see hereditary coproporphyria
CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
CPT I deficiency see carnitine palmitoyltransferase I deficiency
CPT2 - Carnitine palmitoyltransferase II deficiency see carnitine palmitoyltransferase II deficiency
CPTII - Carnitine palmitoyltransferase deficiency type II see carnitine palmitoyltransferase II deficiency
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 syndrome
Crohn disease
Crohn's Disease see Crohn disease
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS see Cockayne syndrome; Cowden syndrome
CSNU - Cystinuria see cystinuria
CUD see primary carnitine deficiency
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
cystic fibrosis
Cystic fibrosis
Cystine diathesis see cystinosis
Cystine disease see cystinosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
cystinuria

D

D-glycerate dehydrogenase deficiency see primary hyperoxaluria
D1 Trisomy see trisomy 13
DAF syndrome see Niemann-Pick disease
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
DAT - Dementia Alzheimer's type see Alzheimer disease
DBMD see muscular dystrophy, Duchenne and Becker types
De la Chapelle dysplasia see atelosteogenesis, type 2
De Lange Syndrome see Cornelia de Lange syndrome
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Deafness with goiter see Pendred syndrome
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-CoA carboxylase deficiency
Degenerative Nerve Diseases
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
5p Deletion Syndrome see cri-du-chat syndrome
deletion 17p syndrome see Smith-Magenis syndrome
22q11.2 deletion syndrome
Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria
Dementia see CADASIL
demyelinogenic leukodystrophy see Alexander disease
dentinogenesis imperfecta
Dercum Disease
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Developmental Disabilities
DGI see dentinogenesis imperfecta
DHMN-V see distal hereditary motor neuropathy, type V
DHTR deficiency see androgen insensitivity syndrome
diastrophic dysplasia
Diffuse Globoid Body Sclerosis see Krabbe disease
DiGeorge Syndrome see 22q11.2 deletion syndrome
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
distal hereditary motor neuropathy, type V
DM1 see myotonic dystrophy, type 1
DM2 see myotonic dystrophy, type 2
Doss porphyria see ALAD deficiency porphyria
Down syndrome
DSMAV see distal hereditary motor neuropathy, type V
DTD see diastrophic dysplasia
Duane Syndrome
Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types
Dwarf, achondroplastic see achondroplasia
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
dysmyelinogenic leukodystrophy see Alexander disease
Dystrophia myotonica see myotonic dystrophy
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome

E

E3 Trisomy see trisomy 18
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
early-onset glaucoma
EDM4 see recessive multiple epiphyseal dysplasia
EDS see Ehlers-Danlos syndrome
Edwards Syndrome see trisomy 18
Ehlers-Danlos syndrome
Ekman-Lobstein disease see osteogenesis imperfecta
Electron transfer flavoprotein deficiency see glutaric acidaemia type II
Elfin Facies Syndrome see Williams syndrome
Elfin facies with hypercalcemia see Williams syndrome
Ellis-van Creveld syndrome
EMA see glutaric acidaemia type II
Emphysema see alpha-1 antitrypsin deficiency
Endocrine Diseases
Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
Enteritis, Granulomatous see Crohn disease
Enteritis, Regional see Crohn disease
entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
Epiloia see tuberous sclerosis
Epiphyseal dysplasia, multiple, 4 see recessive multiple epiphyseal dysplasia
Episkopi blindness see Norrie disease
EPP see erythropoietic protoporphyria
Erythroblastic anaemia see beta thalassaemia
Erythrohepatic protoporphyria see erythropoietic protoporphyria
Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anaemia
Erythropoietic Porphyria see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria see congenital erythropoietic porphyria
ETFA deficiency see glutaric acidaemia type II
ETFB deficiency see glutaric acidaemia type II
ETFDH deficiency see glutaric acidaemia type II
Ethylmalonic-adipicaciduria see glutaric acidaemia type II
Eye Cancer see retinoblastoma
Eye Diseases

F

FA - Friedreich ataxia see Friedreich ataxia
Fabry disease
Facial Injuries and Disorders
faciocutaneoskeletal syndrome see Costello syndrome
Factor V Leiden Thrombophilia
factor V Leiden thrombophilia
FALS see amyotrophic lateral sclerosis
Familial Acoustic Neuromas see neurofibromatosis type 2
familial adenomatous polyposis
familial Alzheimer disease (FAD) see Alzheimer disease
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
Familial Cavernous haemangioma see cerebral cavernous malformation
Familial Cavernous Malformation see cerebral cavernous malformation
Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
familial dysautonomia
Familial Endocrine Adenomatosis see multiple endocrine neoplasia
Familial Haemochromatosis see haemochromatosis
familial lipoprotein lipase deficiency
Familial Mediterranean Fever
familial mediterranean fever
familial intestinal polyposis see familial adenomatous polyposis
familial multiple polyposis see familial adenomatous polyposis
familial multiple polyposis syndrome see familial adenomatous polyposis
familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer
familial paroxysmal polyserositis see familial Mediterranean fever
familial PCT see porphyria cutanea tarda
familial polyposis coli see familial adenomatous polyposis
familial polyposis syndrome see familial adenomatous polyposis
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension
Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura
familial Turner syndrome see Noonan syndrome
Familial vascular leukoencephalopathy see CADASIL
FAP see familial adenomatous polyposis
FCS syndrome see Costello syndrome
FD see familial dysautonomia
female pattern baldness see androgenetic alopecia
Female Pseudo-Turner Syndrome see Noonan syndrome
Ferrochelatase deficiency see erythropoietic protoporphyria
ferroportin disease see haemochromatosis, type 4
Fetal iritis syndrome see Norrie disease
Fever see familial Mediterranean fever
FGFR3-associated coronal synostosis see Muenke syndrome
fibrinoid degeneration of astrocytes see Alexander disease
Fibrocystic Disease of Pancreas see cystic fibrosis
Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
Fish malodour syndrome see trimethylaminuria
Fish odour syndrome see trimethylaminuria
FMF see familial Mediterranean fever
Folling Disease see phenylketonuria
fra(X) syndrome see fragile X syndrome
fragile X syndrome
Fragilitas ossium see osteogenesis imperfecta
Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
FRAXA Syndrome see fragile X syndrome
FRDA see Friedreich ataxia
Friedreich ataxia
Friedreich's Ataxia see Friedreich ataxia
FXS see fragile X syndrome

G

G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
G6PDD see glucose-6-phosphate dehydrogenase deficiency
GA I see glutaric acidaemia type I
GA II see glutaric acidaemia type II
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
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 galactosaemia
GAN see giant axonal neuropathy
Gaucher disease
Gaucher's Disease see Gaucher disease
GD see Gaucher disease
Genetic Brain Disorders
genetic emphysema see alpha-1 antitrypsin deficiency
genetic haemochromatosis see haemochromatosis
giant axonal neuropathy
Giant cell hepatitis, neonatal see haemochromatosis, neonatal
Gilles de la Tourette Syndrome see Tourette syndrome
GLA deficiency see Fabry disease
Glaucoma see early-onset glaucoma
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
glucose-6-phosphate dehydrogenase deficiency
Glucosyl cerebroside lipidosis see Gaucher disease
Glucosylceramidase deficiency see Gaucher disease
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
Glucosylceramide lipidosis see Gaucher disease
glutaric acidaemia type I
glutaric acidaemia type II
Glutaryl-CoA dehydrogenase deficiency see glutaric acidaemia type I
glyceric aciduria see primary hyperoxaluria
glycolic aciduria see primary hyperoxaluria
GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant
GM2 gangliosidosis, type 1 see Tay-Sachs disease
GM2 gangliosidosis, type 2 see Sandhoff disease
GM2 Gangliosidosis, Type II see Sandhoff disease
Goiter-deafness syndrome see Pendred syndrome
Graefe-Usher syndrome see Usher syndrome
Greig cephalopolysyndactyly syndrome
Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
Guillain-Barré Syndrome
Guenther porphyria see congenital erythropoietic porphyria
Gunther Disease see congenital erythropoietic porphyria

H

Haemochromatosis see haemochromatosis
Hair Diseases and Hair Loss see androgenetic alopecia
Hall-Pallister syndrome see Pallister-Hall syndrome
Hallgren syndrome see Usher syndrome
Hand Injuries and Disorders
harlequin ichthyosis
Hb S disease see sickle cell anaemia
HCH see hypochondroplasia
HCP see hereditary coproporphyria
Head and Brain Malformations
Hearing Disorders and Deafness
Hearing Problems in Children
Heart Diseases see Williams syndrome
HEF2A see haemochromatosis, type 2
HEF2B see haemochromatosis, type 2
Hematoporphyria see porphyria
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
Haeme synthetase deficiency see erythropoietic protoporphyria
Haemochromatoses see haemochromatosis
Haemochromatosis, Hereditary
haemochromatosis
haemoglobin M disease see methaemoglobinemia, beta-globin type
haemoglobin S Disease see sickle cell anaemia
haemophilia
haemorrhagic familial nephritis see Alport syndrome
haemorrhagic hereditary nephritis see Alport syndrome
HEP see hepatoerythropoietic porphyria
hepatic AGT deficiency see primary hyperoxaluria
hepatic ductular hypoplasia see Alagille syndrome
hepatoerythropoietic porphyria
hepatofacioneurocardiovertebral syndrome see Alagille syndrome
Hepatolenticular degeneration syndrome see Wilson disease
Hereditary arthro-ophthalmopathy see Stickler syndrome
hereditary coproporphyria
Hereditary dystopic lipidosis see Fabry disease
hereditary familial congenital haemorrhagic nephritis see Alport syndrome
hereditary glaucoma see early-onset glaucoma
hereditary hematuria syndrome see Alport syndrome
Hereditary Haemochromatosis (HHC) see haemochromatosis
hereditary haemorrhagic telangiectasia
hereditary interstitial pyelonephritis see Alport syndrome
Hereditary iron-loading anaemia see X-linked sideroblastic anaemia
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
hereditary motor neuroneopathy see spinal muscular atrophy
Hereditary nephritis see Alport syndrome
hereditary neuropathy with liability to pressure palsies
hereditary nonpolyposis colorectal cancer
Hereditary Opalescent Dentin see dentinogenesis imperfecta
Hereditary Periodic Fever Syndromes see familial Mediterranean fever
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 Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia see Friedreich ataxia
Hereditary Spinal Sclerosis see Friedreich ataxia
Hereditary Tyrosinaemias see tyrosinaemia
Herrick's anaemia see sickle cell anaemia
Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
HexA deficiency see Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease see Sandhoff disease
Hexosaminidase A deficiency see Tay-Sachs disease
Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
HFE-associated haemochromatosis see haemochromatosis
HGPS see Hutchinson-Gilford progeria syndrome
HHT see hereditary haemorrhagic telangiectasia
HI see harlequin ichthyosis
Hidradenitis suppurativa
Hippel-Lindau Disease see von Hippel-Lindau syndrome
HLAH see haemochromatosis
HLCS deficiency see holocarboxylase synthetase deficiency
HMG-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMN V see distal hereditary motor neuropathy, type V
HMSN see Charcot-Marie-Tooth disease
HNPCC see hereditary nonpolyposis colorectal cancer
HNPP see hereditary neuropathy with liability to pressure palsies
holocarboxylase synthetase deficiency
Holoprosencephaly
homocystinuria
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria
Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
HP1 see primary hyperoxaluria
HP2 see primary hyperoxaluria
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 disease
Huntington's disease
Huntington's Disease see Huntington disease
Hutchinson-Gilford progeria syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
21-hydroxylase deficiency
Hydroxymethylbilane synthase deficiency see acute intermittent porphyria
Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency
hyperglycinemia with ketoacidosis and leukopenia see propionic acidaemia
Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
Hyperoxaluria, Primary see primary hyperoxaluria
Hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
Hyperphenylalaninemia, Non-Phenylketonuric see tetrahydrobiopterin deficiency
Hypertyrosinaemia see tyrosinaemia
Hypochondrodysplasia see hypochondroplasia
hypochondrogenesis
hypochondroplasia
Hypochromic anaemia see X-linked sideroblastic anaemia
Hypocupremia, Congenital see Menkes syndrome
hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome

I

IAHSP see infantile-onset ascending hereditary spastic paralysis
Ichthyosis Congenita, Harlequin foetus Type see harlequin ichthyosis
idiopathic haemochromatosis see haemochromatosis, type 3
Idiopathic neonatal haemochromatosis see haemochromatosis, neonatal
Idiopathic pulmonary hypertension see primary pulmonary hypertension
Ileitis see Crohn disease
Ileocolitis see Crohn disease
Immune System and Disorders
incontinentia pigmenti
Infantile cerebral Gaucher's disease see Gaucher disease, type 2
Infantile Gaucher Disease see Gaucher disease, type 2
Infantile hypercalcemia see Williams syndrome
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
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 haemochromatosis
Isolated deafness see nonsyndromic deafness
isovaleric acidaemia
Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidaemia
IVD deficiency see isovaleric acidaemia

J

Jackson-Weiss syndrome
Jervell and Lange-Nielsen syndrome
JH see haemochromatosis, type 2
JLNS see Jervell and Lange-Nielsen syndrome
JPLS see juvenile primary lateral sclerosis
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
juvenile primary lateral sclerosis
JWS see Jackson-Weiss syndrome

K

KD see spinal and bulbar muscular atrophy
Kennedy disease see spinal and bulbar muscular atrophy
Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
Kerasin histiocytosis see Gaucher disease
Kerasin lipoidosis see Gaucher disease
Kerasin thesaurismosis see Gaucher disease
Ketoacidaemia see maple syrup urine disease
3-Ketothiolase deficiency see beta-ketothiolase deficiency
ketotic glycinemia see propionic acidaemia
ketotic hyperglycinemia see propionic acidaemia
Kidney Cancer
Kidney Diseases
Kidney Failure see Alport syndrome
Kidney Stones see cystinuria
Kinky Hair Syndrome see Menkes syndrome
Klinefelter syndrome
Klinefelter's Syndrome see Klinefelter syndrome
Kniest dysplasia
Krabbe disease

L

Lacunar Dementias see CADASIL
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
LCHAD deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Learning Disorders
Lentiginosis, Perioral see Peutz-Jeghers syndrome
Lesch-Nyhan syndrome
Leukodystrophies
Leukodystrophy, spongiform see Canavan disease
leukodystrophy with Rosenthal fibers see Alexander disease
Lewy Body Disease see Parkinson disease
LFS see Li-Fraumeni syndrome
Li-Fraumeni syndrome
Lipase D deficiency see familial lipoprotein lipase deficiency
LIPD deficiency see familial lipoprotein lipase deficiency
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
Lipoid histiocytosis (kerasin type) see Gaucher disease
Lipoprotein Lipase Deficiency, Familial see familial lipoprotein lipase deficiency
Liver Diseases
Liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
LNS see Lesch-Nyhan syndrome
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long QT syndrome 7 see Andersen-Tawil syndrome
Lou Gehrig Disease see amyotrophic lateral sclerosis
Louis-Bar syndrome see ataxia-telangiectasia
LQT7 see Andersen-Tawil syndrome
Lung Diseases see Birt-Hogg-Dubé syndrome
Lynch Syndrome see hereditary nonpolyposis colorectal cancer
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type

M

MAD - Multiple acyl-CoA dehydrogenase deficiency see glutaric acidaemia type II
MADD see glutaric acidaemia type II
Male Breast Cancer see breast cancer
Male Pattern Alopecia see androgenetic alopecia
Male Pattern Baldness see androgenetic alopecia
Male Turner Syndrome see Noonan syndrome
Malignant neoplasm of breast see breast cancer
malignant tumour of breast see breast cancer
Malignant tumour of urinary bladder see bladder cancer
Malonic aciduria see malonyl-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
Mammary cancer see breast cancer
Mandibulofacial Dysostosis see Treacher Collins syndrome
maple syrup urine disease
Marfan syndrome
Marie-Struempell Disease see ankylosing spondylitis
Marker X syndrome see fragile X syndrome
Martin-Bell Syndrome see fragile X syndrome
MAT deficiency see beta-ketothiolase deficiency
MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
McAlister dysplasia see atelosteogenesis, type 2
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
MCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
MCD deficiency see malonyl-CoA decarboxylase deficiency
MEA see multiple endocrine neoplasia
Mediterranean anaemia see beta thalassaemia
Mediterranean Fever, Familial see familial Mediterranean fever
medium-chain acyl-coenzyme A dehydrogenase deficiency
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
MEN see multiple endocrine neoplasia
Menkea syndrome see Menkes syndrome
Menkes syndrome
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
methaemoglobinemia, beta-globin type
3-methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
3-Methylhydroxybutyric acidaemia see beta-ketothiolase deficiency
methylmalonic acidaemia
MFD1 see Treacher Collins syndrome
MFS see Marfan syndrome
MHAM see Cowden syndrome
Microangiopathic haemolytic anaemia see thrombotic thrombocytopenic purpura
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
mitochondrial trifunctional protein deficiency
MK - Menkes syndrome see Menkes syndrome
MMA see methylmalonic acidaemia
MNK - Menkes syndrome see Menkes syndrome
monosomy X see Turner syndrome
Moschkowitz Disease see thrombotic thrombocytopenic purpura
Motor Neurone Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
MSUD see maple syrup urine disease
MTP deficiency see mitochondrial trifunctional protein deficiency
Mucoviscidosis see cystic fibrosis
Muenke syndrome
Multi-Infarct Dementia see CADASIL
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
multiple endocrine neoplasia
Multiple epiphyseal dysplasia, autosomal recessive see recessive multiple epiphyseal dysplasia
Multiple hamartoma syndrome see Cowden syndrome
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
Muscular Dystrophy
muscular dystrophy, Duchenne and Becker types
MYH-associated polyposis see familial adenomatous polyposis
Myotonia atrophica see myotonic dystrophy
Myotonia dystrophica see myotonic dystrophy
myotonic dystrophy
Myxoedema, Congenital see congenital hypothyroidism

N

Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
NBIA1 see pantothenate kinase-associated neurodegeneration
Neonatal osseous dysplasia 1 see atelosteogenesis, type 2
Neuroblastoma, retinal see retinoblastoma
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
Neurofibromatosis
neurofibromatosis type 1
neurofibromatosis type 2
Neurologic Diseases
Neuromuscular Disorders
Nuronal Cholesterol Lipidosis see Niemann-Pick disease
neuroneopathy, distal hereditary motor, type V see distal hereditary motor neuropathy, type V
neuropathy, giant axonal see giant axonal neuropathy
NF1 see neurofibromatosis type 1
NF2 see neurofibromatosis type 2
Niemann-Pick disease
Noack syndrome see Pfeiffer syndrome
Non-neuroneopathic 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
Norrie disease
NPD see Niemann-Pick disease

O

OCA - Oculocutaneous albinism see oculocutaneous albinism
Ochronosis see alkaptonuria
Ochronotic arthritis see alkaptonuria
oculocutaneous albinism
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
OI see osteogenesis imperfecta
Oligophrenia microphthalmus see Norrie disease
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
Osler-Rendu Disease see hereditary haemorrhagic telangiectasia
Osler-Rendu-Weber disease see hereditary haemorrhagic telangiectasia
Osler's disease see hereditary haemorrhagic 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 primary hyperoxaluria
Oxaluria, Primary see primary hyperoxaluria

P

Pallister-Hall syndrome
pantothenate kinase-associated neurodegeneration
Paralysis see infantile-onset ascending hereditary spastic paralysis
Parathyroid Disorders see multiple endocrine neoplasia
Parkinson disease
Parkinson's disease
Parkinson's Disease see Parkinson disease
Patau syndrome see trisomy 13
Pattern baldness see androgenetic alopecia
paucity of interlobular bile ducts see Alagille syndrome
PBGD deficiency see acute intermittent porphyria
PCC deficiency see propionic acidaemia
PCT see porphyria cutanea tarda
PD - Parkinson's disease see Parkinson disease
PDM see myotonic dystrophy, type 2
Pendred syndrome
Periodic Disease see familial Mediterranean fever
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
Periodic peritonitis see familial Mediterranean fever
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peripheral Nerve Disorders
Peripheral Neurofibromatosis see neurofibromatosis type 1
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria
Phaeochromocytoma
PHS see Pallister-Hall syndrome
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis see haemochromatosis
PJS see Peutz-Jeghers syndrome
PKAN see pantothenate kinase-associated neurodegeneration
PKD see polycystic kidney disease
PKU see phenylketonuria
platyspondylic lethal skeletal dysplasia, Torrance type
PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
PLSJ see juvenile primary lateral sclerosis
Plumboporphyria see ALAD deficiency porphyria
PMA see Charcot-Marie-Tooth disease
Poland Anomaly
polycystic kidney disease
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 deaminase deficiency see acute intermittent porphyria
Porphobilinogen synthase deficiency see ALAD deficiency porphyria
porphyria
porphyria, ALA-D type see ALAD deficiency porphyria
porhpyria, Swedish type see acute intermittent 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 disease
primary carnitine deficiency
Primary Haemochromatosis see haemochromatosis
primary hyperoxaluria
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
Primary Parkinsonism see Parkinson disease
primary pulmonary hypertension
Primary Senile Degenerative Dementia see Alzheimer disease
prion disease
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Progeria
Progeria see Hutchinson-Gilford progeria syndrome
Progeria-Like Syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
Progressive Chorea, Chronic Hereditary (Huntington) see Huntington 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 acidaemia
propionyl-CoA carboxylase deficiency see propionic acidaemia
Prostate Cancer
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 see Gaucher-like disease
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoglioma congenita see Norrie disease
pseudoxanthoma elasticum
psychosine lipidosis see Krabbe disease
pulmonary arterial hypertension see primary pulmonary hypertension
Pulmonary Hypertension see primary pulmonary hypertension
Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
PWS see Prader-Willi syndrome
PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum
Pyrroloporphyria see acute intermittent porphyria

R

RB see retinoblastoma
recessive multiple epiphyseal dysplasia
Recklinghausen Disease, Nerve see neurofibromatosis type 1
Recurrent polyserositis see familial Mediterranean fever
Renal carnitine transport defect see primary carnitine deficiency
Rendu-Osler-Weber see hereditary haemorrhagic telangiectasia
Retinitis Pigmentosa
Retinitis pigmentosa-deafness syndrome see Usher syndrome
retinoblastoma
Rett syndrome
Rheumatoid Spondylitis see ankylosing spondylitis
Ricker syndrome see myotonic dystrophy, type 2
Riley-Day Syndrome see familial dysautonomia
rMED see recessive multiple epiphyseal dysplasia
Romano-Ward syndrome
RSH Syndrome see Smith-Lemli-Opitz syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rett syndrome; Rubinstein-Taybi syndrome
RTT see Rett syndrome
Rubinstein-Taybi syndrome
RWS see Romano-Ward syndrome

S

Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
SADDAN
Sandhoff disease
Sarcoma, breast, leukaemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome
Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome
SBLA syndrome see Li-Fraumeni syndrome
SBMA see spinal and bulbar muscular atrophy
SCD see sickle cell anaemia
Schilder-Addison Complex see X-linked adrenoleukodystrophy
Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
SCIDX1 see X-linked severe combined immunodeficiency
sclerosis tuberosa see tuberous sclerosis
SDAT see Alzheimer disease
SED congenita see spondyloepiphyseal dysplasia congenita
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc see spondyloepiphyseal dysplasia congenita
Sedlackova syndrome see 22q11.2 deletion syndrome
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
Severe Combined Immunodeficiency (SCID)
Shprintzen syndrome see 22q11.2 deletion syndrome
sickle cell anaemia
Sickle cell disease
Skeleton-skin-brain syndrome see SADDAN
Skin Cancer
Skin Conditions
Skin Pigmentation Disorders
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
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
Smith-Magenis syndrome
SMS see Smith-Magenis syndrome
Soft Tissue Sarcoma see Li-Fraumeni syndrome
South African genetic porphyria see variegate porphyria
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
SPD see spondyloperipheral dysplasia
Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
Sphingomyelin lipidosis see Niemann-Pick disease
Sphingomyelinase deficiency see Niemann-Pick disease
spinal and bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
Spondylarthritis Ankylopoietica see ankylosing spondylitis
Spondylitis ankylopoietica see ankylosing spondylitis
Spondylitis, Ankylosing see ankylosing spondylitis
Spondyloarthritis Ankylopoietica see ankylosing spondylitis
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
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
spondyloperipheral dysplasia
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
Stale fish syndrome see trimethylaminuria
Steely Hair Syndrome see Menkes syndrome
Steinert Disease see myotonic dystrophy, type 1
Stickler syndrome
Stroke see CADASIL
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Sudden unexpected nocturnal death syndrome see Brugada syndrome
Sudden unexplained death syndrome see Brugada syndrome
SUDS see Brugada syndrome
SUNDS see Brugada syndrome
Supravalvar aortic stenosis syndrome see Williams syndrome
Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
Swedish genetic porphyria see acute intermittent porphyria
Swedish porphyria see acute intermittent porphyria
Swiss cheese cartilage dysplasia see Kniest dysplasia
Symbols, A-Z of Gene
5p- Syndrome see cri-du-chat syndrome
17p- syndrome see Smith-Magenis syndrome
Systemic carnitine deficiency see primary carnitine deficiency

T

T2 deficiency see beta-ketothiolase deficiency
Tay-Sachs
Tay-Sachs disease
Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia, type 2
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
Testicular feminisation syndrome see androgen insensitivity syndrome
tetrahydrobiopterin deficiency
TFM see androgen insensitivity syndrome
TFP deficiency see mitochondrial trifunctional protein deficiency
Thalassaemia
Thalassaemia see beta thalassaemia
thalassaemia intermedia see beta thalassaemia
thalassaemia Major see beta thalassaemia
thanatophoric dysplasia
thrombotic thrombocytopenic purpura
Thyroid Cancer see multiple endocrine neoplasia
Thyroid Diseases
TMAU see trimethylaminuria
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Total hexosaminidase deficiency see Sandhoff disease
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
Tourette syndrome
TPA deficiency see mitochondrial trifunctional protein deficiency
Transmissible Dementias see prion disease
Transmissible Spongiform Encephalopathies see prion disease
Treacher Collins syndrome
Trias fragilitis ossium see osteogenesis imperfecta, type I
trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency
Trigeminal Neuralgia
Trimethylaminuria
trimethylaminuria
triple X syndrome
Triplo X syndrome see triple X syndrome
trisomy 13
trisomy 18
Trisomy 21 see Down syndrome
Trisomy X see triple X syndrome
Troisier-Hanot-Chauffard syndrome see haemochromatosis
TS see Turner syndrome
TSD see Tay-Sachs disease
TSEs see prion disease
TTP see thrombotic thrombocytopenic purpura
tuberose sclerosis see tuberous sclerosis
tuberous sclerosis
Turner-like syndrome see Noonan syndrome
Turner syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
Turner's Syndrome see Turner syndrome
Type 2 Gaucher Disease see Gaucher disease, type 2
Type 3 Gaucher Disease see Gaucher disease, type 3
tyrosinaemia

U

UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Ullrich-Noonan syndrome see Noonan syndrome
Ullrich-Turner syndrome see Turner syndrome
Undifferentiated deafness see nonsyndromic deafness
UPS deficiency see acute intermittent porphyria
Urinary bladder cancer see bladder cancer
UROD deficiency see porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda
Uroporphyrinogen synthase deficiency see acute intermittent porphyria
UROS deficiency see congenital erythropoietic porphyria
Usher syndrome
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia

V

Van Bogaert-Bertrand syndrome see Canavan disease
Van der Hoeve syndrome see osteogenesis imperfecta, type I
variegate porphyria
Vascular Diseases see hereditary haemorrhagic telangiectasia
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
very long-chain acyl-coenzyme A dehydrogenase deficiency
VHL syndrome see von Hippel-Lindau syndrome
vitelliform macular dystrophy
VLCAD-C see very long-chain acyl-coenzyme A dehydrogenase deficiency
VLCAD deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
VLCAD-H see very long-chain acyl-coenzyme A dehydrogenase deficiency
Von Bogaert-Bertrand disease see Canavan disease
Von Hippel-Lindau Disease see von Hippel-Lindau syndrome
von Hippel-Lindau syndrome
Von Recklenhausen-Applebaum disease see haemochromatosis
von Recklinghausen Disease see neurofibromatosis type 1
VP see variegate porphyria
Vrolik disease see osteogenesis imperfecta

W

Waardenburg syndrome
Ward-Romano Syndrome see Romano-Ward syndrome
Watson-Miller syndrome see Alagille syndrome
WBS see Williams syndrome
WD - Wilson's disease see Wilson disease
Weber-Osler see hereditary haemorrhagic telangiectasia
Weissenbacher-Zweymüller syndrome
Werner syndrome
Whitnall-Norman syndrome see Norrie disease
Williams syndrome
Wilson disease
WMS see Williams syndrome
Wolff Periodic Disease see familial Mediterranean fever
WRS see Romano-Ward syndrome
WS see Werner syndrome; Williams syndrome
WZS see Weissenbacher-Zweymüller syndrome

X

45,X see Turner syndrome
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked copper deficiency see Menkes syndrome
X-linked hyperuricemia see Lesch-Nyhan syndrome
X-linked mental retardation and macroorchidism see fragile X syndrome
X-linked primary hyperuricemia see Lesch-Nyhan syndrome
X-linked severe combined immunodeficiency
X-linked sideroblastic anaemia
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
X-SCID see X-linked severe combined immunodeficiency
XLSA see X-linked sideroblastic anaemia
XSCID see X-linked severe combined immunodeficiency
47,XX,+21 see Down syndrome
47,XXX see triple X syndrome
XXX syndrome see triple X syndrome
47,XXY see Klinefelter syndrome
XXY syndrome see Klinefelter syndrome
XXY trisomy see Klinefelter syndrome
47,XY,+21 see Down syndrome
47,XYY syndrome
XYY Karyotype see 47,XYY syndrome
XYY syndrome see 47,XYY syndrome

Y

YY syndrome see 47,XYY syndrome