From the CCU Owned eBook - Fifth edition
18p deletion syndrome -- 18q deletion syndrome -- 22q11.2 deletion syndrome -- 22q13 deletion syndrome -- 3-M syndrome -- 3-Methylglutaconic aciduria type 2 -- 3D organoid biosystems -- 46,XX testicular disorder of sex development -- Aarskog syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Accutane embryopathy -- Aceruloplasminemia -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome (ACLS), Schnizel type, Joubert syndrome, and related disorders -- Acromegaly -- Adams-Oliver syndrome -- Adaptive immunity -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Agensis of the corpus callosum -- Aicardi syndrome -- ALA dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha thalassemia -- Alpha-1 antitrypsin deficiency -- Alpha-thalassemia X-linked intellectual disability syndrome -- Alport syndrome -- Alström syndrome -- Alzheimer's disease -- Ambiguous genitalia -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyloidosis -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Ataxia-Telangiectasia -- Attention deficit hyperactivity disorder -- Atypical Singleton-Merten syndrome -- Autism spectrum disorders -- Autologous germline mitochondrial transfer -- Autosomal dominant multiple pterygium syndrome -- AUTS2 syndrome -- Bardet-Biedl syndrome -- Base editing -- Beare-Stevenson cutis gyrata syndrome -- Beckwith-Wiedemann syndrome -- Beta thalaseemia -- Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar disorder -- Birt-Hogg-Dubé syndrome -- Bloom syndrome -- Blue rubber bleb nevus syndrome -- Brachydactyly -- Branchiootorenal (BOR) syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Campomelic dysplasia -- Camurati-Engelmann disease -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- CECR1 gene-recurrent fevers and strokes in children -- Celiac disease -- Cell-free DNA test -- Cenani-Lenz syndrome -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) -- Cerebral palsy -- Channelopathies -- Charcot-Marie-Tooth disease -- CHARGE syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- CHOPS syndrome -- Chorionic villus sampling -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- CODAS syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Cole-Carpenter syndrome -- Colitis -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Combined pituitary hormone deficiency -- Computational genomics -- Cone-rod dystrophy -- Congenital adrenal hyperplasia -- Congenital contractural arachnodactyly -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital microcoria -- Conjoined twins -- Connectome genetics -- Corneal dystrophy -- Cornelia de Lange syndrome -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniofacial microsomia -- Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du chat syndrome -- Crispr/Cas -- Crohn's disease -- Crouzon syndrome -- Courzonodermoskeletal syndrome -- Cystic Fibrosis -- Cystinosis -- Cystinuria -- Dandy-Walker malformation -- De novo -- Dementia, hereditary forms -- Dent disease -- Dentatorubral-pallidoluysian atrophy -- Depression -- Diabetes -- Diamond-Blackfan anemia -- Diastrophic dysplasia -- Direct-to-consumer genetic testing -- Disorders of sex development (DSD) -- DNA (deoxyribonucleic acid) -- DNA methylation -- Donohue syndrome -- Down syndrome -- Dubowitz syndrome -- Duchenne and Becker muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Edwards syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Epidermolysis bullosa -- Epigenetic inheritance -- Epigenome -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Ex vivo lentiviral gene therapies -- Exome sequencing -- Expanded carrier screening (ECS) -- Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial idiopathic basal ganglia calcification -- Familial lipoprotein lipase deficiency -- Familial Mediterranean fever -- Fanconi anemia -- Fanconi-Bickel syndrome -- Feingold syndrome -- Fetal alcohol spectrum disorders -- FG syndrome -- Fibroblast growth factor receptor-related conditions -- First-trimester pregnancy screening -- Fluorescent in situ hybridization -- Focal dermal hypoplasia -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galactosemia -- Galactosialidosis -- Gamete donor anonymity -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene editing -- Gene fusion -- Gene mutations -- Gene panel testing -- Gene pool -- Gene regulatory networks -- Gene therapy -- Genetic anthropology -- Genetic counseling -- Genetic disorders -- Genetic gain -- Genetic Information Nondiscrimination Act (GINA) -- Genetic mapping -- genetic testing -- Genetics and congenital anomalies -- Genome -- Genome sequencing -- Genome- and epigenome-wide association studies -- Genomic medicine -- Genotype and phenotype -- Genotype tissue expression project (GTEx) -- Germline genome editing -- Germline mosaicism -- Giant congenital melanocytic nevus -- Glanzmann thrombasthenia nevus -- Glycine encephalopathy -- Glycogen storage diseases -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-genital syndrome -- Harlequin ichthyosis -- HeLa cells -- Hemihypertrophy (Hemihyperplasia) -- Hemochromatosis -- Hemolytic-uremic syndrome -- Hemophilia -- Hepatocellular carcinoma -- Herceptin -- Hereditary angioneurotic edema -- Hereditary colorectal cancer -- Hereditary coproporphyria -- Hereditary desmoid disease -- Hereditary hearing loss and deafness -- Hereditary hemorrhagic telangiectasia -- Hereditary hypertrophic cardiomyopathy -- Hereditary multiple osteochondromas -- Hereditary neuropathy with liability to pressure palsies -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human Genome Project -- Huntington's disease -- Hutchinson-Gilford progeria syndrome -- Hydrocephalus -- Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Infertility -- Inheritance -- Inherited arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome -- Jervell and Lange-Nielsen syndrome -- Joubert syndrome -- Kabuki syndrome -- Kallmann syndrome -- Karyomapping -- Karyotype -- Keppen-Lubinsky syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay-Weber syndrome -- Kniest dysplasia -- Krabbe disease -- L1 syndrome -- Langer-Saldino achondrogenesis -- Larsen syndrome -- Laterality sequence -- Leber congenital amaurosis -- Leber hereditary optic atrophy -- Leigh Syndrome -- Lesch-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome -- Limb-girdle muscular dystrophy -- Liquid biopsy -- Lissencephaly -- Long QT syndrome -- Lowe oculocerebrorenal syndrome -- Lupus -- Lynch syndrome -- Macular degeneration-age-related -- Major histocompatibility complex -- Male infertility -- Malignant hyperthermia -- Mannosidosis -- Marfan syndrome -- Marshall syndrome -- Marshall-Smith syndrome -- MCAD deficiency -- McCune-Albright syndrome -- McKusick-Kaufman syndrome --
Methemoglobinemia, beta-globin type
Methylenetetrahydrofolate reductase variant (MTHFR gene variant)
Microcephaly and hypomyelination
Microcephaly with spastic diplegia
Microdeletion and microdeletion syndromes
Mitochondrial replacement therapy (MRT)
Multifactorial inheritance
Multiple endoncrine neoplasia
Multiple epiphyseal dysplasia
Multiple lentigines syndrome
Multiplex ligation-dependent probe amplification
Mutations (on-target and off-target)
Nephrogenic diabetes insipidus
Neuronal ceroid lipofuscinoses
Nevoid basal cell carcinoma
Next-generation sequencing
Nijmegen breakage syndrome
Noninvasive prenatal screening
Oculodentodigital syndrome
Oral-facial-digital syndrome
Omithine transcarbamylase deficiency
Otopalatodigital syndrome
Pallister-Killian syndrome
Pancreatic beta cell agenesis
Pantothenate kinase-associated neurodegeneration
Paroxysmal nocturnal hemoglobinuria
Pelizaeus-Merzbacher disease
Pervasive development disorders
Polycystic ovary syndrome
Pontocerebellar hypoplasia (PCH)
Preimplantation genetic diagnosis
Primary ciliary dyskinesia
Primary familial brain calcification
PTSD (post-traumatic stress disorder)
Pulmonary arterial hypertension
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate kinase deficiency
Recurrence risk counseling
Renal failure due to hypertension
Rhizomelic chondrodysplasia punctata
Rothmund-Thomson syndrome
Rubinstein-Taybi syndrome
Schinzel-Giedion syndrome
Sclerosing bone dysplasias
Severe combined immunodeficiency
Short-rib thoracic dysplasia with or without polydactyly
Shprintzen-Goldberg craniosynostosis syndrome
Simpson-Golabi-Behmel syndrome
Smith-Fineman-Myers syndrome
Smith-Lemli-Opitz syndrome
SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type 1
Spinal and bulbar muscular atrophy
Spindle transfer technique
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita
SRY (sex-determining region Y)
Steroid-resistant nephrotic syndrome type 2/galoway-Mowat syndrome
SWI/SNF-related autism syndrome
Thoracic aortic aneurysms
Thyroid hormone resistance syndrome
Treacher Collins syndrome
Trichorhinophalangeal syndrome
triosephosphate isomerase deficiency
Trismus-pseudocamptodactyly syndrome
Trisomy 8 mosaicism syndrome
Tuberous sclerosis complex
Twin reversed arterial perfusion (TRAP) sequence
Urogenital adysplasia syndrome
Von Hippel-Lindau syndrome von Willebrand disease
Weissenbacher-Zweymuller syndrome
Whole-exome and whole-genome sequencing
X-linked intellectual disability
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
Zimmermann-Laband syndrome
