Genetics
#
A
- AAT deficiency
- AATD
- Abetalipoproteinemia
- Abetalipoproteinemia neuropathy
- Acute intermittent porphyria
- ADA deficiency
- Adenosine deaminase deficiency
- Adenylate kinase-2 deficiency
- ADPKD
- Adrenogenital syndrome
- Advanced maternal age
- AFAP
- AHO
- AK2 deficiency
- Albright hereditary osteodystrophy
- Aldrich syndrome
- Alpha one antiprotease deficiency
- Alpha-(alpha) thalassemia
- Alpha-1 antitrypsin deficiency
- Alpha-thal
- Alpha-thalassemia
- Alpha-thalassemia major
- Alport syndrome
- Alternative pathway defect
- AP defect
- Apolipoprotein B deficiency
- Arachnodactyly
- Armenian syndrome
- ARPKD
- Artemis SCID
- Ataxia (evaluation of)
- Athabascan SCID
- Attenuated familial adenomatous polyposis
- Attenuated WAS (XLT)
- Atypical genitalia
- Atypical genitalia in neonates
- Autoinflammatory syndrome
- Autosomal dominant Opitz GBBB syndrome
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
- Autosomal recessive polyserositis
- Autosomal-recessive severe combined immunodeficiency
B
- Bassen-Kornzweig syndrome
- Benign joint hypermobility syndrome
- Benign paroxysmal peritonitis
- Beta-thalassemia
- Beta-thalassemia intermedia
- Beta-thalassemia major
- Beta-thalassemia minor
- Betalipoprotein deficiency disease
- Bourneville disease
C
- C-21-hydroxylase deficiency
- C1-inhibitor deficiency
- C3Nef defect
- Cardiomyopathy (evaluation of)
- CATCH22
- Cayler cardiofacial syndrome
- CD3 deficiency
- CD45 deficiency
- Cellular immunodeficiency
- Cernunnos-XLF deficiency
- CF
- CGD
- Charcot Marie Tooth disease
- Charcot-Marie-Tooth disease
- Chronic granulomatous disease
- Chronic granulomatous disease of childhood
- Chronic idiopathic jaundice
- Classical 21-hydroxylase deficiency
- Classical pathway defect
- CMT (Charcot-Marie-Tooth disease)
- Combined immunodeficiency
- Common gamma chain deficiency
- Common hereditary lysosomal storage diseases
- Complement deficiencies
- Cone dystrophy
- Congenital adrenal hyperplasia
- Congenital adrenocortical hyperplasia
- Congenital betalipoprotein deficiency syndrome
- Congenital spherocytic hemolytic anemia
- Congenital spherocytosis
- Conotruncal anomaly face syndrome
- Constitutional hepatic dysfunction
- Constitutional hyperbilirubinemia
- Cooley anemia
- Copper storage disease
- CP defect
- Crail syndrome
- Cystic fibrosis
- Cystic fibrosis of the pancreas
D
- DeSanctis-Cacchione syndrome
- Developmental delay (Down syndrome)
- Differences of sex development
- DiGeorge syndrome
- Diseases of the retina
- DJS
- DNA ligase IV deficiency
- Dolichostenomelia
- Down syndrome
- Down syndrome (DS)
- DSD
- Dubin-Johnson syndrome
- Duchenne muscular dystrophy
E
- Eczema-thrombocytopenia-immunodeficiency syndrome
- EDS
- Ehlers-Danlos syndrome
- Evaluation of ataxia
- Evaluation of cardiomyopathy
F
- Fabry disease
- Factor VIII deficiency
- Familial adenomatous polyposis syndromes
- Familial conjugated hyperbilirubinemias (Dubin-Johnson syndrome)
- Familial conjugated hyperbilirubinemias (Rotor syndrome)
- Familial homozygous hypobetalipoproteinemia
- Familial Mediterranean fever
- Familial Mediterranean fever disease
- Familial Mediterranean fever syndrome
- Familial nephritis
- Familial nonhemolytic jaundice
- Familial paroxysmal polyserositis
- Familial periodic syndrome
- Familial recurrent polyserositis
- FAP
- Fatal granulomatosis of childhood
- Fibrocystic disease of the pancreas
- FMF
- FMF disease
- FMF syndrome
G
- G6PD deficiency
- Gardner syndrome
- Gaucher disease
- Gene map locus Xp11.23-p11.22
- Genetic emphysema
- Gilbert syndrome
- Glucose-6-phosphatase deficiency
- Glucose-6-phosphate dehydrogenase deficiency
- Glucose-6-phosphate translocase deficiency
- Gonadal dysgenesis
- GSD I
H
- Hamartomatous polyposis
- Hamartomatous polyposis syndrome
- HD
- Hemochromatosis
- Hemoglobin Bart hydrops fetalis syndrome (Hb Bart)
- Hemoglobin Constant Spring (Hb CS)
- Hemoglobin H (Hb H)
- Hemoglobin H hydrops fetalis syndrome
- Hemoglobin H/Constant Spring (Hb H/CS)
- Hemoglobin SC (HbSC) disease
- Hemoglobinopathy
- Hemolytic anemia (hereditary spherocytosis)
- Hemophilia
- Hepatorenal glycogenosis
- Hereditary hemochromatosis
- Hereditary hyperbilirubinemias
- Hereditary motor and sensory neuropathy
- Hereditary nonhemolytic hyperbilirubinemia
- Hereditary periodic fever syndrome
- Hereditary retinal dystrophy
- Hereditary spherocytosis
- Heritable disorders of connective tissue
- HMSN
- Homozygous HbS condition
- HS (hereditary spherocytosis)
- Huntington chorea
- Huntington disease
- Hutchinson Weber-Peutz syndrome
- Hypermobility
- Hyperphenylalaninemia
- Hypotonia
I
- IL-7 receptor alpha chain deficiency
- Immunodeficiency 2; IMD2
- Inherited neuropathy
- Inherited retinal degeneration
- Intellectual disability
- Interleukin-7 receptor alpha chain deficiency
- Intermittent acute porphyria
- Intersex
J
L
M
- Mannan-binding lectin defect
- Marchiafava-Micheli syndrome
- Marfan syndrome
- Marfan's disease
- MBL defect
- Mediterranean anemia
- Medullary thyroid cancer
- Medullary thyroid carcinoma
- MEN
- MEN1
- MEN2
- MEN2A
- MEN2B
- Mental retardation (Down syndrome)
- MFS
- Microsomal triglyceride transfer protein deficiency
- Morgagni-Turner-Albright syndrome
- MPS disorders
- MTC
- Mucopolysaccharidosis
- Mucoviscidosis
- Mucoviscidosis of the pancreas
- Mucovoidosis
- Multiple endocrine neoplasia
- Multiple endocrine neoplasia syndrome
- Multiple endocrine neoplasia syndromes
- Multiple endocrine neoplasias
- Muscular dystrophies
N
- Nephritic factor defect
- NF1
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C
- Nonclassical 21-hydroxylase deficiency
- Noonan syndrome
- NS
O
P
- PAH deficiency
- Pancreas fibrocystic disease
- Pancreatic cystic fibrosis
- Paroxysmal nocturnal hemoglobinuria
- Periodic amyloid syndrome
- Peutz-Jeghers
- Peutz-Jeghers syndrome
- Phenylalanine hydroxylase deficiency
- Phenylketonuria
- PHP
- PHP IA
- PHP II
- Pigmentary retinal dystrophy
- Pigmentary retinopathy
- PJS
- PKD
- PKU
- PNH
- PNP deficiency
- Polycystic kidney disease
- Pompe disease
- Prader-Willi syndrome
- Primary immunodeficiency (SCID)
- Progressive septic granulomatosis
- Pseudo-PHP
- Pseudohermaphrodite
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism type Ia
- Pseudohypoparathyroidism type Ib
- Pseudohypoparathyroidism type Ic
- Pseudohypoparathyroidism type II
- Pseudopseudohypoparathyroidism
- Purine nucleoside phosphorylase deficiency
- PWS
- Pyrroloporphyria
R
- RAG1 deficiency
- RAG2 deficiency
- Recombination activating gene 1 deficiency
- Recombination activating gene 2 deficiency
- Recurrent polyserositis
- Reimann periodic disease
- Reimann syndrome
- Reticular dysgenesis (SCID)
- Retinal degeneration
- Retinal disease
- Retinal dystrophy
- Retinitis pigmentosa
- Rod dystrophy
- Rod/cone dystrophy
- Rotor syndrome
- RS
S
- Salt waster
- Severe combined immunodeficiency
- Sex reversal
- Shprintzen syndrome
- Sickle cell anemia
- Sickle cell disease (SCD)
- Sickle cell hemoglobinopathies
- Siegel-Cattan-Mamou syndrome
- Simple virilizer
- Sipple syndrome
- Swedish porphyria
T
- Tay-Sachs disease
- Thrombocytopenic purpura
- Thyroid cancer (muliple endocrine neoplasia syndromes)
- Trisomy 21
- True hermaphrodite
- TS
- TSC
- Tuberous sclerosis
- Tuberous sclerosis complex
- Turcot syndrome
- Turner syndrome
- Type 1 glycogenosis
- Type 1 MEN
- Type 1 multiple endocrine neoplasia
- Type 1 neurofibromatosis
- Type 2 MEN
- Type 2 multiple endocrine neoplasia
- Type 2A MEN
- Type 2A multiple endocrine neoplasia
- Type 2B MEN
- Type 2B multiple endocrine neoplasia
- Type I glycogen storage disease
- Type I GSD