Genetic Diseases, Inborn
Categorical breakdown of terms falling inder the category of Genetic Diseases, Inborn. Sub categories will become more specific in nature to the terms listed for Genetic Diseases, Inborn.
Sub-Categories
Terms
Abetalipoproteinemia - An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal trig...
Acatalasia - A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually ...
Achondroplasia - An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected indiv...
Acidosis, Renal Tubular - A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolicall...
Activated Protein C Resistance - A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). T...
Acute Chest Syndrome - Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, a...
Acute Chest Syndrome - Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, a...
Adenomatous Polyposis Coli - A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSO...
Adrenal Hyperplasia, Congenital - A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of c...
Adrenal Hyperplasia, Congenital - A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of c...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Afibrinogenemia - A deficiency or absence of fibrinogen (coagulation factor I) in the blood. (Dorland, 27th ed)...
Alagille Syndrome - A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTR...
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficien...
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficien...
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficien...
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted....
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted....
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted....
Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ...
Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ...
Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ...
Alexander Disease - A rare inherited disorder of myelin formation. Alexander disease is a progressive leukoencephalopath...
Alkaptonuria - An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIO...
alpha-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activ...
alpha-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activ...
alpha-Thalassemia - A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of thi...
alpha-Thalassemia - A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of thi...
Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...
Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...
Amino Acid Metabolism, Inborn Errors - Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present...
Amino Acid Transport Disorders, Inborn - Disorders characterized by defective transport of amino acids across cell membranes. These include d...
Amyloid Neuropathies, Familial - Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in ne...
Amyloid Neuropathies, Familial - Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in ne...
Amyloidosis, Familial - Diseases in which there is a familial pattern of AMYLOIDOSIS....
Androgen-Insensitivity Syndrome - A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients ...
Anemia, Diamond-Blackfan - A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characte...
Anemia, Dyserythropoietic, Congenital - A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchron...
Anemia, Hemolytic, Congenital - Hemolytic anemia due to various intrinsic defects of the erythrocyte....
Anemia, Hemolytic, Congenital Nonspherocytic - Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spher...
Anemia, Hypoplastic, Congenital - An inborn condition characterized by deficiencies of red cell precursors that sometimes also include...
Anemia, Sickle Cell - A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involve...
Anemia, Sickle Cell - A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involve...
Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...
Angioedemas, Hereditary - Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRA...
Aniridia - A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of th...
Antithrombin III Deficiency - An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis....
Antley-Bixler Syndrome Phenotype - An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANI...
Argininosuccinic Aciduria - Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosucci...
Argininosuccinic Aciduria - Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosucci...
Arthritis, Gouty - Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipit...
Aspartylglucosaminuria - A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASP...
Ataxia Telangiectasia - An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, p...
Autoimmune Lymphoproliferative Syndrome - Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known ca...
Barth Syndrome - Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked ...
Barth Syndrome - Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked ...
Basal Cell Nevus Syndrome - Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multi...
Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACR...
Bernard-Soulier Syndrome - A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelet...
beta-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that r...
beta-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that r...
beta-Thalassemia - A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation...
beta-Thalassemia - A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation...
Biotinidase Deficiency - The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-depen...
Biotinidase Deficiency - The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-depen...
Blood Coagulation Disorders, Inherited - Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood...
Brain Diseases, Metabolic, Inborn - Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead ...
Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fi...
Brugada Syndrome - An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment i...
Bulbo-Spinal Atrophy, X-Linked - An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding ...
CADASIL - A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of g...
Camurati-Engelmann Syndrome - An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphysea...
Canavan Disease - A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolizati...
Carbamoyl-Phosphate Synthase I Deficiency Disease - A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle to...
Carbamoyl-Phosphate Synthase I Deficiency Disease - A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle to...
Carbohydrate-Deficient Glycoprotein Syndrome - An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosoma...
Cardiomyopathy, Hypertrophic, Familial - An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more tha...
Cerebral Amyloid Angiopathy, Familial - A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels ...
Cerebral Amyloid Angiopathy, Familial - A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels ...
Charcot-Marie-Tooth Disease - A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and ...
Cherubism - A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic app...
Cholesterol Ester Storage Disease - An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). ...
Cholesterol Ester Storage Disease - An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). ...
Chondrodysplasia Punctata, Rhizomelic - An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen bios...
Choroideremia - An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the r...
Choroideremia - An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the r...
Chromosome Disorders - Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing...
Citrullinemia - A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an...
Citrullinemia - A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an...
Classical Lissencephalies and Subcortical Band Heterotopias - Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuron...
Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...
Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...
Coffin-Lowry Syndrome - A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6...
Coffin-Lowry Syndrome - A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6...
Colorectal Neoplasms, Hereditary Nonpolyposis - A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. ...
Congenital Hypothyroidism - A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can...
Coproporphyria, Hereditary - An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIV...
Coproporphyria, Hereditary - An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIV...
Corneal Dystrophies, Hereditary - Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at bi...
Corneal Dystrophy, Juvenile Epithelial of Meesmann - An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATI...
Costello Syndrome - Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial f...
Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...
Crigler-Najjar Syndrome - A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is ...
Cryopyrin-associated Periodic Syndromes - A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) wi...
Cutis Laxa - A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed t...
Cystic Fibrosis - An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene...
Cystinosis - A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membran...
Cystinuria - An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PR...
Cytochrome-c Oxidase Deficiency - A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRO...
Darier Disease - An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coale...
De Lange Syndrome - A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitc...
delta-Thalassemia - A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HE...
delta-Thalassemia - A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HE...
Denys-Drash Syndrome - A rare syndrome characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; PSEUDOHERMAPHRODITISM...
Dermatitis, Atopic - A chronic inflammatory genetically determined disease of the skin marked by increased ability to for...
Dihydropyrimidine Dehydrogenase Deficiency - An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrim...
Distal Myopathies - A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE ...
Donohue Syndrome - Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding doma...
Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...
Duane Retraction Syndrome - A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduct...
Dwarfism - A genetic or pathological condition that is characterized by short stature and undersize. Abnormal s...
Dysautonomia, Familial - An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashk...
Dyskeratosis Congenita - A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation,...
Dyskeratosis Congenita - A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation,...
Dysplastic Nevus Syndrome - Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and il...
Dystonia Musculorum Deformans - A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of...
Ectodermal Dysplasia - A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm...
Ectodermal Dysplasia 1, Anhidrotic - An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPL...
Ectodermal Dysplasia 1, Anhidrotic - An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPL...
Ectodermal Dysplasia 3, Anhidrotic - An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDA...
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive - An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the E...
Ehlers-Danlos Syndrome - A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis ...
Elliptocytosis, Hereditary - An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assum...
Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, ...
Epidermolysis Bullosa - Group of genetically determined disorders characterized by the blistering of skin and mucosae. There...
Epidermolysis Bullosa Dystrophica - Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail...
Epidermolysis Bullosa Simplex - A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations...
Epidermolysis Bullosa, Junctional - Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted th...
Erythrokeratodermia Variabilis - An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA ...
Exostoses, Multiple Hereditary - Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostose...
Eye Diseases, Hereditary - Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Factor V Deficiency - A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile ...
Factor VII Deficiency - An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN...
Factor X Deficiency - Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acqui...
Factor XI Deficiency - A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecede...
Factor XII Deficiency - An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of pa...
Factor XIII Deficiency - A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood...
Familial Mediterranean Fever - A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, h...
Fanconi Anemia - Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBO...
Fanconi Syndrome - A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without prima...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Favism - Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fav...
Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...
Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...
Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...
Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...
Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...
Friedreich Ataxia - An autosomal recessive disease, usually of childhood onset, characterized pathologically by degenera...
Fructose Intolerance - An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (...
Fructose Metabolism, Inborn Errors - Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types:...
Fructose-1,6-Diphosphatase Deficiency - An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosph...
Fuchs' Endothelial Dystrophy - Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothe...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Galactosemias - A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This co...
Galactosemias - A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This co...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gardner Syndrome - A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOM...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Genetic Diseases, Inborn - Diseases that are caused by genetic mutations present during embryo or fetal development, although t...
Genetic Diseases, X-Linked - Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMA...
Genetic Diseases, Y-Linked - Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMA...
Gerstmann-Straussler-Scheinker Disease - An autosomal dominant familial prion disease with a wide spectrum of clinical presentations includin...
Giant Axonal Neuropathy - Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutati...
Gilbert Disease - A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-g...
Gitelman Syndrome - An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KI...
Glucosephosphate Dehydrogenase Deficiency - A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of ...
Glucosephosphate Dehydrogenase Deficiency - A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of ...
Glycogen Storage Disease - A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and deg...
Glycogen Storage Disease Type I - An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resultin...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type IIb - An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATI...
Glycogen Storage Disease Type IIb - An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATI...
Glycogen Storage Disease Type III - An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one ...
Glycogen Storage Disease Type IV - An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching en...
Glycogen Storage Disease Type V - Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following susta...
Glycogen Storage Disease Type VI - A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase...
Glycogen Storage Disease Type VII - An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphof...
Glycogen Storage Disease Type VII - An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphof...
Glycogen Storage Disease Type VIII - An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphor...
Glycogen Storage Disease Type VIII - An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphor...
Glycosuria, Renal - An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBUL...
Gonadal Dysgenesis, 46,XY - This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilatera...
Gonadal Dysgenesis, Mixed - A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic varia...
Gout - Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and depositi...
Granulomatous Disease, Chronic - A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to diges...
Gray Platelet Syndrome - A rare, inherited platelet disorder characterized by a selective deficiency in the number and conten...
Gyrate Atrophy - Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory re...
Hajdu-Cheney Syndrome - Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and sk...
Hamartoma Syndrome, Multiple - A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neo...
Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...
Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...
Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...
Hemochromatosis - A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and ...
Hemoglobin C Disease - A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderat...
Hemoglobin C Disease - A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderat...
Hemoglobin SC Disease - One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C...
Hemoglobin SC Disease - One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C...
Hemoglobinopathies - A group of inherited disorders characterized by structural alterations within the hemoglobin molecul...
Hemophilia A - The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of bl...
Hemophilia B - A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christ...
Hemophilia B - A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christ...
Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...
Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...
Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...
Hereditary Autoinflammatory Diseases - Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Co...
Hereditary Central Nervous System Demyelinating Diseases - Inherited conditions characterized by a loss of myelin in the central nervous system....
Hereditary Sensory and Autonomic Neuropathies - A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion c...
Hereditary Sensory and Motor Neuropathy - A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Sub...
Heredodegenerative Disorders, Nervous System - Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiolo...
Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...
Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...
Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...
Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...
Holocarboxylase Synthetase Deficiency - The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in hol...
Holocarboxylase Synthetase Deficiency - The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in hol...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Homocystinuria - Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHI...
Homocystinuria - Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHI...
Huntington Disease - A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progr...
Hydrops Fetalis - Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERIC...
Hyperargininemia - A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic e...
Hyperargininemia - A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic e...
Hyperbilirubinemia, Hereditary - Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating...
Hyperglycinemia, Nonketotic - An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleava...
Hyperglycinemia, Nonketotic - An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleava...
Hyperhomocysteinemia - Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmo...
Hyper-IgM Immunodeficiency Syndrome, Type 1 - An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIG...
Hyperkeratosis, Epidermolytic - A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHR...
Hyperlipidemia, Familial Combined - A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma ...
Hyperlipoproteinemia Type I - An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a li...
Hyperlipoproteinemia Type II - A group of familial disorders characterized by elevated circulating cholesterol contained in either ...
Hyperlipoproteinemia Type III - An autosomal recessively inherited disorder characterized by the accumulation of intermediate-densit...
Hyperlipoproteinemia Type IV - A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by t...
Hyperlipoproteinemia Type V - A severe type of hyperlipidemia, sometimes familial, that it is characterized by the elevation of bo...
Hyperlysinemias - A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enz...
Hyperlysinemias - A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enz...
Hyperoxaluria, Primary - A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS...
Hyperthyroxinemia, Familial Dysalbuminemic - An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THY...
Hypoalphalipoproteinemias - Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood...
Hypobetalipoproteinemias - Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the ...
Hypokalemic Periodic Paralysis - An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakn...
Hypolipoproteinemias - Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipo...
Hypophosphatasia - A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading t...
Hypophosphatemia, Familial - An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occ...
Hypophosphatemia, Familial - An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occ...
Hypophosphatemic Rickets, X-Linked Dominant - An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phos...
Hypophosphatemic Rickets, X-Linked Dominant - An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phos...
Hypophosphatemic Rickets, X-Linked Dominant - An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phos...
Hypoprothrombinemias - Absence or reduced levels of prothrombin in the blood....
Ichthyosiform Erythroderma, Congenital - Designation for several severe forms of ichthyosis, present at birth, that are characterized by hype...
Ichthyosis Bullosa of Siemens - An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEM...
Ichthyosis Vulgaris - Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surface...
Ichthyosis, Lamellar - A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born...
Ichthyosis, X-Linked - Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromo...
Ichthyosis, X-Linked - Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromo...
Ichthyosis, X-Linked - Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromo...
Incontinentia Pigmenti - A genodermatosis occurring mostly in females and characterized by skin changes in three phases - ves...
Isolated Noncompaction of the Ventricular Myocardium - Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction...
Jacobsen Distal 11q Deletion Syndrome - A clinically recognized malformation condition caused by a distal 11q deletion. The features of the ...
Jaundice, Chronic Idiopathic - A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark...
Kallmann Syndrome - A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defe...
Kartagener Syndrome - An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS...
Keratoderma, Palmoplantar - Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result ...
Keratoderma, Palmoplantar, Diffuse - An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis...
Keratoderma, Palmoplantar, Epidermolytic - An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is ...
Klinefelter Syndrome - A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, s...
Lactose Intolerance - The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROI...
Lafora Disease - A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The m...
Laron Syndrome - An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, a...
Lecithin Acyltransferase Deficiency - An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERA...
Leigh Disease - A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomot...
Leigh Disease - A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomot...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Leukokeratosis, Hereditary Mucosal - An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white o...
Liddle Syndrome - Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HY...
Li-Fraumeni Syndrome - Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple s...
Lipid Metabolism, Inborn Errors - Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable....
Lipidoses - Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such a...
Lipoid Proteinosis of Urbach and Wiethe - An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN...
Loeys-Dietz Syndrome - An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling...
Lynch Syndrome II - Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ov...
Lysosomal Storage Diseases - Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting ...
Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...
Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...
Machado-Joseph Disease - A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subse...
Mannosidase Deficiency Diseases - Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages ...
Mannosidase Deficiency Diseases - Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages ...
Maple Syrup Urine Disease - An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a ...
Maple Syrup Urine Disease - An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a ...
Marfan Syndrome - An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, an...
MELAS Syndrome - A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or pe...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Mental Retardation, X-Linked - A class of genetic disorders resulting in mental retardation that is associated either with mutation...
Mental Retardation, X-Linked - A class of genetic disorders resulting in mental retardation that is associated either with mutation...
MERRF Syndrome - A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, p...
Metabolism, Inborn Errors - Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired...
Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...
Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...
Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...
Mineralocorticoid Excess Syndrome, Apparent - A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low R...
Monilethrix - Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYP...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucopolysaccharidoses - Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in ...
Mucopolysaccharidoses - Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in ...
Mucopolysaccharidosis I - Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and c...
Mucopolysaccharidosis I - Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and c...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis III - Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardatio...
Mucopolysaccharidosis III - Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardatio...
Mucopolysaccharidosis IV - Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint ins...
Mucopolysaccharidosis IV - Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint ins...
Mucopolysaccharidosis VI - Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and d...
Mucopolysaccharidosis VI - Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and d...
Mucopolysaccharidosis VII - Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurl...
Mucopolysaccharidosis VII - Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurl...
Muir-Torre Syndrome - A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome...
Mulibrey Nanism - Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which ...
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS...
Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotony...
Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotony...
Multiple Endocrine Neoplasia - A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving ...
Multiple Endocrine Neoplasia Type 1 - A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in...
Multiple Endocrine Neoplasia Type 2a - A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINO...
Multiple Endocrine Neoplasia Type 2b - Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncog...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Muscular Dystrophies - A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL...
Muscular Dystrophies, Limb-Girdle - A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal rec...
Muscular Dystrophy, Duchenne - An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is invol...
Muscular Dystrophy, Duchenne - An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is invol...
Muscular Dystrophy, Emery-Dreifuss - A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The ...
Muscular Dystrophy, Emery-Dreifuss - A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The ...
Muscular Dystrophy, Facioscapulohumeral - An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of th...
Muscular Dystrophy, Oculopharyngeal - An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPH...
Myasthenic Syndromes, Congenital - A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmissio...
Myoclonic Cerebellar Dyssynergia - A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in th...
Myotonia Congenita - A dominantly inherited muscle disease that begins in early childhood and is characterized by severe ...
Myotonic Dystrophy - An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterize...
Myotonic Dystrophy - An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterize...
Nail-Patella Syndrome - A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and c...
Neoplastic Syndromes, Hereditary - The condition of a pattern of malignancies within a family, but not every individual's necessarily h...
Netherton Syndrome - Rare autosomal recessive disease with variable expressions. Clinical features of the disease include...
Netherton Syndrome - Rare autosomal recessive disease with variable expressions. Clinical features of the disease include...
Neuroacanthocytosis - An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYS...
Neurocutaneous Syndromes - A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the s...
Neurofibromatoses - A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates o...
Neurofibromatoses - A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates o...
Neurofibromatosis 1 - An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that featu...
Neurofibromatosis 1 - An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that featu...
Neurofibromatosis 2 - An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as w...
Neurofibromatosis 2 - An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as w...
Neuronal Ceroid-Lipofuscinoses - A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluo...
Neuronal Ceroid-Lipofuscinoses - A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluo...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Olivopontocerebellar Atrophies - A group of inherited and sporadic disorders which share progressive ataxia in combination with atrop...
Optic Atrophies, Hereditary - Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relati...
Optic Atrophies, Hereditary - Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relati...
Optic Atrophy, Autosomal Dominant - Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color visio...
Optic Atrophy, Autosomal Dominant - Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color visio...
Optic Atrophy, Hereditary, Leber - A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision l...
Optic Atrophy, Hereditary, Leber - A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision l...
Ornithine Carbamoyltransferase Deficiency Disease - An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFE...
Ornithine Carbamoyltransferase Deficiency Disease - An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFE...
Ornithine Carbamoyltransferase Deficiency Disease - An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFE...
Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...
Osteogenesis Imperfecta - Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and ch...
Pachyonychia Congenita - A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nai...
Pain Insensitivity, Congenital - A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non...
Pantothenate Kinase-Associated Neurodegeneration - A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolesc...
Papillon-Lefevre Disease - Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is charac...
Paralyses, Familial Periodic - A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressiv...
Paralysis, Hyperkalemic Periodic - An autosomal dominant familial disorder which presents in infancy or childhood and is characterized ...
Pelizaeus-Merzbacher Disease - A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congen...
Pemphigus, Benign Familial - An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and...
Peroxisomal Disorders - A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES...
Peroxisomal Disorders - A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES...
Peutz-Jeghers Syndrome - A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is character...
Phenylketonuria, Maternal - A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they becom...
Phenylketonuria, Maternal - A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they becom...
Phenylketonurias - A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE ...
Phenylketonurias - A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE ...
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hai...
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hai...
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hai...
Porokeratosis - A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones ...
Porphyria Cutanea Tarda - An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in...
Porphyria Cutanea Tarda - An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in...
Porphyria, Acute Intermittent - An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the L...
Porphyria, Acute Intermittent - An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the L...
Porphyria, Erythropoietic - An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the...
Porphyria, Erythropoietic - An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the...
Porphyria, Hepatoerythropoietic - An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXY...
Porphyria, Hepatoerythropoietic - An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXY...
Porphyria, Variegate - An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3....
Porphyria, Variegate - An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3....
Porphyrias - A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in...
Porphyrias, Hepatic - A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthe...
Porphyrias, Hepatic - A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthe...
Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...
Progeria - An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is charact...
Prolidase Deficiency - Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is charac...
Prolidase Deficiency - Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is charac...
Propionic Acidemia - Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that r...
Protein C Deficiency - An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is...
Protoporphyria, Erythropoietic - An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in b...
Protoporphyria, Erythropoietic - An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in b...
Pseudohypoaldosteronism - A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congen...
Pseudohypoparathyroidism - A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response t...
Pseudopseudohypoparathyroidism - A genetically related form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for...
Pseudoxanthoma Elasticum - An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC ...
Pyruvate Carboxylase Deficiency Disease - An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activit...
Pyruvate Carboxylase Deficiency Disease - An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activit...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Metabolism, Inborn Errors - Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyr...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Refsum Disease, Infantile - An early onset form of phytanic acid storage disease with clinical and biochemical signs different f...
Refsum Disease, Infantile - An early onset form of phytanic acid storage disease with clinical and biochemical signs different f...
Renal Aminoacidurias - A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS...
Renal Tubular Transport, Inborn Errors - Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES....
Retinal Dysplasia - Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear r...
Retinitis Pigmentosa - Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night bli...
Rett Syndrome - An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and ma...
Rett Syndrome - An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and ma...
Rett Syndrome - An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and ma...
Rothmund-Thomson Syndrome - An autosomal recessive syndrome occurring principally in females, characterized by the presence of r...
Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sex Chromosome Disorders - Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS) i...
Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...
Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...
Sickle Cell Trait - The condition of being heterozygous for hemoglobin S....
Sickle Cell Trait - The condition of being heterozygous for hemoglobin S....
Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...
Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...
Sjogren-Larsson Syndrome - An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION...
Sjogren-Larsson Syndrome - An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION...
Skin Diseases, Genetic - Diseases of the skin with a genetic component, usually the result of various inborn errors of metabo...
Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...
Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...
Spastic Paraplegia, Hereditary - A group of inherited diseases that share similar phenotypes but are genetically diverse. Different g...
Spherocytosis, Hereditary - A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes whic...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Spinal Muscular Atrophies of Childhood - A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. T...
Spinocerebellar Ataxias - A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divide...
Spinocerebellar Degenerations - A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either i...
Steroid Metabolism, Inborn Errors - Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherite...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Tangier Disease - An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS ...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Thalassemia - A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglo...
Thalassemia - A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglo...
Thrombasthenia - A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in ...
Tourette Syndrome - A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission in...
Trichothiodystrophy Syndromes - Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associa...
Tuberous Sclerosis - An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the ...
Turner Syndrome - A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome m...
Tyrosinemias - A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to...
Tyrosinemias - A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to...
Unverricht-Lundborg Syndrome - An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAX...
Urea Cycle Disorders, Inborn - Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that resu...
Urea Cycle Disorders, Inborn - Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that resu...
Usher Syndromes - Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and ...
von Willebrand Disease, Type 1 - A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR....
von Willebrand Disease, Type 2 - A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FAC...
von Willebrand Disease, Type 3 - A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEB...
von Willebrand Diseases - Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualit...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...
Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...
Werner Syndrome - An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal...
Williams Syndrome - A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the...
Wilms Tumor - A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), strom...
Wiskott-Aldrich Syndrome - A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyog...
Wiskott-Aldrich Syndrome - A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyog...
Wolf-Hirschhorn Syndrome - A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in ...
Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...
Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...
Wolman Disease - The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid li...
Wolman Disease - The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid li...
Xanthomatosis, Cerebrotendinous - An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27...
Xeroderma Pigmentosum - A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photose...
X-Linked Combined Immunodeficiency Diseases - Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON G...
Yellow Nail Syndrome - A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION ...
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...
Common Chronic Illnesses
Coronary Disease
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Diabetes Mellitus, Type 1
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Diabetes Supplies | Diabetic Groups
Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Free Diabetes Supplies
Hypertension
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Mesothelioma
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
Osteoarthritis
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
