DISEASES Curated Gene-Disease Assocation Evidence Scores Dataset

Description disease gene evidence scores by manual literature curation
Measurement association by literature curation
Association gene-disease associations by integrating evidence from manual literature curation
Category disease or phenotype associations
Resource DISEASES
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  1. 2252 genes
  2. 770 diseases
  3. 18144 gene-disease associations

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disease Gene Sets

770 sets of genes involed in diseases from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Gene Set Description
2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
3-methylcrotonyl-coa carboxylase deficiency An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
aarskog-scott syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
acatalasia
aceruloplasminemia An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
acquired metabolic disease A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly.
adenosine deaminase deficiency A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
adnexa disease
adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood.
adrenal cortex disease
adrenal gland disease An endocrine system disease that is located_in the adrenal gland.
adrenal gland hyperfunction
adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
agat deficiency An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
age related macular degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
agranulocytosis
aicardi-goutieres syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
alagille syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
alexander disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
allan-herndon-dudley syndrome An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
alpers syndrome A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions.
alpha 1-antitrypsin deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
alpha thalassemia Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
alpha-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
alport syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
alstrom syndrome An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
alzheimer's disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
amelogenesis imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation.
amino acid metabolic disorder An inherited metabolic disorders which impair the synthesis and degradation of amino acids.
amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
amyotrophic neuralgia OMIM mapping confirmed by DO. [SN].
andersen-tawil syndrome A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
androgen insensitivity syndrome A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
angelman syndrome OMIM mapping confirmed by DO. [SN].
angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
aniridia OMIM mapping confirmed by DO. [SN].
ankylosing spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
antithrombin iii deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
antley-bixler syndrome An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic valve disease Updating out dated UMLS CUI.
aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
argininosuccinic aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
arrhythmogenic right ventricular cardiomyopathy An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
arteriosclerotic cardiovascular disease
artery disease A vascular disease that is located_in an artery.
arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
aspartylglucosaminuria OMIM mapping confirmed by DO. [SN].
asphyxiating thoracic dystrophy OMIM mapping confirmed by DO. [SN].
asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
ataxia telangiectasia OMIM mapping confirmed by DO. [SN].
atherosclerosis
atrial heart septal defect Xref MGI.
atrophic muscular disease
auditory system disease
autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
autoimmune disease of central nervous system An autoimmune disease of the central nervous system.
autoimmune disease of endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
autoimmune disease of the nervous system
autoimmune lymphoproliferative syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
autoimmune thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
autosomal genetic disease A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
axenfeld-rieger syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
b cell deficiency A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
baller-gerold syndrome OMIM mapping confirmed by DO. [SN].
bannayan-riley-ruvalcaba syndrome OMIM mapping confirmed by DO. [SN].
bardet-biedl syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
bart-pumphrey syndrome OMIM mapping confirmed by DO. [SN].
barth syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
bartter disease
basal ganglia disease
beare-stevenson cutis gyrata syndrome OMIM mapping confirmed by DO. [SN].
beckwith-wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
behcet's disease A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
bernard-soulier syndrome OMIM mapping confirmed by DO. [SN].
beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
beta-ketothiolase deficiency OMIM mapping confirmed by DO. [SN].
beta-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
bethlem myopathy OMIM mapping confirmed by DO. [SN].
bile duct disease
biliary tract disease
bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
biotin-responsive basal ganglia disease OMIM mapping confirmed by DO. [SN].
biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase.
birt-hogg-dube syndrome OMIM mapping confirmed by DO. [SN].
bjornstad syndrome OMIM mapping confirmed by DO. [SN].
blau syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM mapping confirmed by DO. [SN].
bloch-sulzberger syndrome OMIM mapping confirmed by DO. [SN].
blood coagulation disease
blood platelet disease
blood protein disease
bloom syndrome OMIM mapping confirmed by DO. [SN].
bone cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
bone inflammation disease A bone disease that results_in inflammation of the located_in bone.
bone marrow cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
bone marrow disease
bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone.
bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass.
boomerang dysplasia OMIM mapping confirmed by DO. [SN].
brachial plexus neuropathy
brain disease
branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
branchiootorenal syndrome OMIM mapping confirmed by DO. [SN].
breast cancer A thoracic cancer that originates in the mammary gland.
brody myopathy OMIM mapping confirmed by DO. [SN].
bronchial disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
brooke-spiegler syndrome OMIM mapping confirmed by DO. [SN].
brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
cadasil
caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability.
campomelic dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
camurati-engelmann disease An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
canavan disease OMIM mapping confirmed by DO. [SN].
cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
carney complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
cd40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
celiac disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
central core myopathy OMIM mapping confirmed by DO. [SN].
central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
centronuclear myopathy A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
cerebellar disease
cerebral creatine deficiency syndrome
cerebral degeneration
cerebrotendinous xanthomatosis A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
charcot-marie-tooth disease
charcot-marie-tooth disease type 3 OMIM mapping confirmed by DO. [SN].
chediak-higashi syndrome OMIM mapping confirmed by DO. [SN].
cherubism OMIM mapping confirmed by DO. [SN].
cholestasis
cholesterol ester storage disease
chordoma A notochordal cancer that derives_from cellular remnants of the notochord.
chorea-acanthocytosis
choroid disease
choroideremia OMIM mapping confirmed by DO. [SN].
chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
chronic granulomatous disease A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
chronic myeloproliferative disease A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
chronic progressive external ophthalmoplegia
chronic pulmonary heart disease
citrullinemia An urea cycle disorder that involves the accumulation of ammonia in the blood.
cleidocranial dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
clouston syndrome OMIM mapping confirmed by DO. [SN].
cockayne syndrome An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
coffin-lowry syndrome OMIM mapping confirmed by DO. [SN].
coffin-siris syndrome A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.
cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
collagen disease
coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
colonic disease
combined t cell and b cell immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.
common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
complement factor i deficiency OMIM mapping confirmed by DO. [SN].
cone-rod dystrophy A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
congenital afibrinogenemia OMIM mapping confirmed by DO. [SN].
congenital diaphragmatic hernia A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
congenital disorder of glycosylation A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
congenital dyserythropoietic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
congenital generalized lipodystrophy OMIM mapping confirmed by DO. [SN].
congenital heart disease OMIM mapping confirmed by DO. [SN].
congenital hemolytic anemia
congenital hypoplastic anemia
congenital hypothyroidism A hypothyroidism that is present at birth.
congenital ichthyosiform erythroderma OMIM mapping confirmed by DO. [SN].
congenital muscular dystrophy A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.
congenital myasthenic syndrome A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
congenital nervous system abnormality
congenital stationary night blindness A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
congenital structural myopathy
congestive heart failure A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
connective tissue cancer A musculoskeletal system cancer that is located_in connective tissue.
connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
cor pulmonale A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
corneal disease
cornelia de lange syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
costello syndrome OMIM mapping confirmed by DO. [SN].
cowden disease An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves.
craniometaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
craniosynostosis A synostosis that results_in premature fusion located_in skull.
cri-du-chat syndrome OMIM mapping confirmed by DO. [SN].
crigler-najjar syndrome A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
crohn's disease An intestinal disease that involves inflammation located_in intestine.
crouzon syndrome A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
cutis laxa A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.
cyclic hematopoiesis OMIM mapping confirmed by DO. [SN].
cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
cystinosis
cystinuria An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
cytochrome-c oxidase deficiency disease OMIM mapping confirmed by DO. [SN].
dandy-walker syndrome OMIM mapping confirmed by DO. [SN].
danon disease OMIM mapping confirmed by DO. [SN].
deafness dystonia syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
degeneration of macula and posterior pole
dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
demyelinating disease
demyelinating polyneuropathy
dental enamel hypoplasia
dentatorubral-pallidoluysian atrophy A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
dentinogenesis imperfecta OMIM mapping confirmed by DO. [SN].
denys-drash syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
diabetes insipidus
diabetes mellitus
diamond-blackfan anemia A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction.
diaphragm disease A muscular disease that is located_in the diaphragm.
diastrophic dysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
dihydropyrimidine dehydrogenase deficiency A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.
disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
disease of anatomical entity A disease that manifests in a defined anatomical structure.
disease of cellular proliferation A disease that is characterized by abnormally rapid cell division.
disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules.
duane retraction syndrome OMIM mapping confirmed by DO. [SN].
dubin-johnson syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
dyskeratosis congenita A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
dysostosis A bone development disease that results_in defective ossification of located_in bone.
dystonia
ehlers-danlos syndrome A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
ellis-van creveld syndrome OMIM mapping confirmed by DO. [SN].
emery-dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
epidermolysis bullosa
epidermolysis bullosa dystrophica
epidermolysis bullosa simplex
epidermolytic hyperkeratosis OMIM mapping confirmed by DO. [SN].
epilepsy syndrome A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
episodic ataxia A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement.
erythromelalgia
exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone.
exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye.
eye disease An eye and adnexa disease that is located_in the eye.
fabry disease OMIM mapping confirmed by DO. [SN].
facioscapulohumeral muscular dystrophy OMIM mapping confirmed by DO. [SN].
factor v deficiency OMIM mapping confirmed by DO. [SN].
familial adenomatous polyposis An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
familial hyperlipidemia
familial juvenile hyperuricemic nephropathy A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
familial lipoprotein lipase deficiency OMIM mapping confirmed by DO. [SN].
familial mediterranean fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin.
familial periodic paralysis
fanconi's anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
farber lipogranulomatosis OMIM mapping confirmed by DO. [SN].
female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
fg syndrome An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
fibrodysplasia ossificans progressiva .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
finnish type amyloidosis OMIM mapping confirmed by DO. [SN].
focal dermal hypoplasia OMIM mapping confirmed by DO. [SN].
fragile x syndrome A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function.
frasier syndrome OMIM mapping confirmed by DO. [SN].
friedreich ataxia Xref MGI.
frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
fucosidosis OMIM mapping confirmed by DO. [SN].
fukuyama congenital muscular dystrophy OMIM mapping confirmed by DO. [SN].
galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
gamma chain deficiency A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
gangliosidosis
gangliosidosis gm2
gastrointestinal stromal tumor OMIM mapping confirmed by DO. [SN].
gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract.
gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
generalized dystonia A dystonia that affects most or all of the body.
genetic disease A disease that has_material_basis_in genetic variations in the human genome.
gilbert syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
gilles de la tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
gitelman syndrome OMIM mapping confirmed by DO. [SN].
glaucoma
globe disease
glucose metabolism disease
glucosephosphate dehydrogenase deficiency A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
glycine encephalopathy An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
glycogen storage disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
glycogen storage disease i A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.
glycogen storage disease ii A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
glycogen storage disease iv OMIM mapping confirmed by DO. [SN].
glycogen storage disease v OMIM mapping confirmed by DO. [SN].
glycogen storage disease vi A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
glycogen storage disease vii OMIM mapping confirmed by DO. [SN].
gonadal disease An endocrine system disease that is located_in the gonads.
gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
greig cephalopolysyndactyly syndrome An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
guillain-barre syndrome An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
hailey-hailey disease OMIM mapping confirmed by DO. [SN].
hair disease An integumentary system disease that is located_in hair.
hair follicle neoplasm
heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system.
heart disease A cardiovascular system disease that involves the heart.
heart septal defect
heart valve disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
hemangioblastoma
hemangioma A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.
hematologic cancer An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
hematopoietic system disease An immune system disease that has_material_basis_in hematopoietic cells.
hemiplegia
hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
hemolytic-uremic syndrome Xref MGI.
hemophagocytic lymphohistiocytosis A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
hemorrhagic disease
hemorrhagic thrombocythemia A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.
hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract.
hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
hereditary angioedema OMIM mapping confirmed by DO. [SN].
hereditary elliptocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
hereditary fructose intolerance syndrome
hereditary hemorrhagic telangiectasia An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
hereditary mucosal leukokeratosis A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
hereditary multiple exostoses An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth.
hereditary sensory neuropathy
hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
hereditary spherocytosis A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
hermansky-pudlak syndrome An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
hermaphroditism
hidradenitis
hidradenitis suppurativa OMIM mapping confirmed by DO. [SN].
hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
histidine metabolism disease An amino acid metabolic disorder that involves deficiency in histidine.
histidinemia A histidine metabolism disease that involves a deficiency of the enzyme histidase.
histiocytosis A lymphatic system disease that is characterized by an excessive number of histiocytes.
holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
huntington's disease A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
hyperimmunoglobulin syndrome
hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
hyperkalemic periodic paralysis OMIM mapping confirmed by DO. [SN].
hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
hypermethioninemia An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
hyperopia
hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone.
hypersensitivity reaction disease An immune system disease that is caused by abnormal immune responses.
hypersensitivity reaction type ii disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
hypersensitivity reaction type iv disease
hypertension
hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
hypertrophic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads.
hypohidrotic ectodermal dysplasia A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
hypokalemic periodic paralysis OMIM mapping confirmed by DO. [SN].
hypolipoproteinemia
hypophosphatasia OMIM mapping confirmed by DO. [SN].
hypophosphatemia
hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone.
hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
idiopathic interstitial pneumonia A pneumonia located_in the lung parenchyma of unknown cause.
idiopathic juvenile osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
ileus
immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
immune system disease A disease of anatomical entity that is located_in the immune system.
impaired renal function disease
infantile onset spinocerebellar ataxia
inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract.
inherited blood coagulation disease
inherited metabolic disorder A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality.
integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs.
integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
intestinal disease A gastrointestinal system disease that is located_in the intestine.
intestinal obstruction
intestinal pseudo-obstruction
intrahepatic cholestasis Xref MGI.
intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
iris disease
iron metabolism disease
ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone.
isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
job's syndrome OMIM mapping confirmed by DO. [SN].
junctional epidermolysis bullosa Xref MGI.
juvenile myoclonic epilepsy A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
kallmann syndrome OMIM mapping confirmed by DO. [SN].
kawasaki disease A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
kennedy's disease
keratosis
keratosis follicularis OMIM mapping confirmed by DO. [SN].
kidney disease A urinary system disease that is located_in the kidney.
klinefelter's syndrome No OMIM mapping, confirmed by DO. [LS].
klippel-feil syndrome A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra.
kniest dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
krabbe disease OMIM mapping confirmed by DO. [SN].
lactose intolerance OMIM mapping confirmed by DO. [SN].
ladd syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
lafora disease OMIM mapping confirmed by DO. [SN].
langerhans-cell histiocytosis A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
leber congenital amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
legg-calve-perthes disease An osteochondrosis that results_in death and fracture located_in hip joint.
leigh disease A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
lens disease
leopard syndrome OMIM mapping confirmed by DO. [SN].
lesch-nyhan syndrome OMIM mapping confirmed by DO. [SN].
leukocyte disease
leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain.
leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
li-fraumeni syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
liddle syndrome OMIM mapping confirmed by DO. [SN].
limb-girdle muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids.
lipid storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
lipodystrophy
lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
liver cancer A gastrointestinal system cancer that is located_in the liver.
liver carcinoma A liver cancer that has_material_basis_in epithelial cells.
liver disease
loeys-dietz syndrome
long qt syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract.
lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
lupus erythematosus
lymph node disease
lymphadenitis
lymphangioleiomyomatosis
lymphatic system disease An immune system disease that is located_in the lymphatic system.
lymphedema
lynch syndrome Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms).
lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
machado-joseph disease A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
male reproductive system disease A reproductive system disease that affects male reproductive organs.
malignant hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
maple syrup urine disease An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
marfan syndrome OMIM mapping confirmed by DO. [SN].
mccune albright syndrome An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.
megacolon A colonic disease that is characterized by an abnormal dilation of the colon.
menkes disease OMIM mapping confirmed by DO. [SN].
metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
methylmalonic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
mevalonic aciduria OMIM mapping confirmed by DO. [SN].
microcephaly OMIM mapping confirmed by DO. [SN].
microphthalmia An eye disease where one or both eyeballs are abnormally small.
migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism.
mitochondrial metabolism disease An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction.
monilethrix OMIM mapping confirmed by DO. [SN].
monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
motor neuron disease A neurodegenerative disease that is located_in the motor neurones.
mouth disease A gastrointestinal system disease that is located_in the mouth.
movement disease
mucolipidosis A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
mucopolysaccharidosis A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
mucopolysaccharidosis ii A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
mucopolysaccharidosis iii A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
mucopolysaccharidosis vi A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
mucosulfatidosis OMIM mapping confirmed by DO. [SN].
multiple carboxylase deficiency An amino acid metabolic disorder that involves failures of carboxylation enzymes.
multiple epiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain.
multiple sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
multiple system atrophy OMIM mapping confirmed by DO. [LS].
muscle tissue disease
muscular disease A musculoskeletal system disease that affects the muscles.
muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration.
musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
myeloma A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
myopathy of extraocular muscle
myotonic disease A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
nail-patella syndrome OMIM mapping confirmed by DO. [SN].
narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
nemaline myopathy A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.
neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
nephronophthisis An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
nerve compression syndrome
nervous system cancer An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system.
nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
netherton syndrome OMIM mapping confirmed by DO. [SN].
neuroacanthocytosis
neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells.
neurodegenerative disease A central nervous system disease that results_in the progressive deterioration of function or structure of neurons.
neurofibromatosis The presence of multiple cutaneous neurofibromas.
neurohypophyseal diabetes insipidus OMIM mapping confirmed by DO. [SN].
neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles.
neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
neuropathy A nervous system disease that is located_in nerves or nerve cells.
neutral lipid storage disease A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
neutropenia
nevoid basal cell carcinoma syndrome OMIM mapping confirmed by DO. [SN].
niemann-pick disease OMIM mapping confirmed by DO. [SN].
night blindness
nijmegen breakage syndrome OMIM mapping confirmed by DO. [SN].
non-langerhans-cell histiocytosis
nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
noonan syndrome OMIM mapping confirmed by DO. [SN].
normocytic anemia
norum disease OMIM mapping confirmed by DO. [SN].
notochordal cancer An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
nutrition disease An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
obesity OMIM mapping confirmed by DO. [SN].
obstructive lung disease
ocular albinism
ocular cancer A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
ocular motility disease
oculocerebrorenal syndrome OMIM mapping confirmed by DO. [SN].
oculocutaneous albinism An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
oculopharyngeal muscular dystrophy OMIM mapping confirmed by DO. [SN].
ohtahara syndrome A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
orbital disease An adnexa disease that is located_in the eye socket.
organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from.
organ system cancer A cancer that is classified based on the organ it starts in.
organic acidemia An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
ornithine carbamoyltransferase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
ornithine translocase deficiency An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
orofaciodigital syndrome A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene.
osteochondritis dissecans An ischemic bone disease that results_in necrosis located_in epiphysis.
osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone.
osteochondrosis An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass.
otospondylomegaepiphyseal dysplasia An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
ovarian disease
overnutrition Updated outdated UMLS CUI.
pachyonychia congenita OMIM mapping confirmed by DO. [SN].
paget's disease of bone A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
pallister-hall syndrome OMIM mapping confirmed by DO. [SN].
palmoplantar keratosis A keratosis characterized by abnormal thickening of the palms and the soles.
pancreas disease An endocrine system disease that is located_in the pancreas.
panhypopituitarism
pantothenate kinase-associated neurodegeneration A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.
paraplegia
parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
partington syndrome
pelizaeus-merzbacher disease OMIM mapping confirmed by DO. [SN].
peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system.
peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system.
peripheral primitive neuroectodermal tumor A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
peripheral vascular disease A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction.
pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
peutz-jeghers syndrome OMIM mapping confirmed by DO. [SN].
pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
phagocyte bactericidal dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
phenylketonuria An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
phgdh deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
phosphorus metabolism disease
photosensitive trichothiodystrophy OMIM mapping confirmed by DO. [SN].
physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
piebaldism OMIM mapping confirmed by DO. [SN].
pigmentation disease
pilomatrixoma OMIM mapping confirmed by DO. [SN].
pituitary gland disease An endocrine system disease that is located_in the pituitary gland.
plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction.
pleural disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
plexopathy
pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
pneumothorax
polyarteritis nodosa
polycystic kidney disease An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium.
polycythemia
polycythemia vera OMIM mapping confirmed by DO. [SN].
polyneuropathy
porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
prader-willi syndrome OMIM mapping confirmed by DO. [SN].
pre-eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
primary ciliary dyskinesia An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
primary hyperoxaluria OMIM mapping confirmed by DO. [SN].
primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
primary polycythemia
primary pulmonary hypertension A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
progeria OMIM mapping confirmed by DO. [SN].
progressive myoclonus epilepsy
progressive supranuclear palsy A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
propionic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
protein c deficiency
protein s deficiency
proteus syndrome OMIM mapping confirmed by DO. [SN].
prothrombin deficiency OMIM mapping confirmed by DO. [SN].
pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
pseudohermaphroditism
pseudoxanthoma elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
purine nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.
purine-pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
pyruvate decarboxylase deficiency A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
rapadilino syndrome
refractive error
refsum disease OMIM mapping confirmed by DO. [SN].
renal tubular transport disease
renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
reproductive system disease A disease of anatomical entity that is located_in reproductive system organs.
respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
retinal cancer
retinal cell cancer A malignant neoplasm that derives_from the retina.
retinal degeneration
retinal disease An eye disease that is located_in the retina.
retinal vascular disease
retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
rett syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
rhizomelic chondrodysplasia punctata A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.
rickets A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.
riley-day syndrome OMIM mapping confirmed by DO. [SN].
roberts syndrome OMIM mapping confirmed by DO. [SN].
rothmund-thomson syndrome OMIM mapping confirmed by DO. [SN].
rubinstein-taybi syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.
saethre-chotzen syndrome An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
sandhoff disease OMIM mapping confirmed by DO. [SN].
scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
seckel syndrome An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
senior-loken syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
sensenbrenner syndrome OMIM mapping confirmed by DO. [SN].
sensory system cancer A nervous system cancer that is located_in the sensory system.
sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
serine deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
severe combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
sex differentiation disease
sialuria A lysosomal storage disease characterized by increased sialic acid in the urine.
sick sinus syndrome Xref MGI.
sideroblastic anemia An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
silver-russell syndrome OMIM mapping confirmed by DO. [LS].
sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
sjogren-larsson syndrome OMIM mapping confirmed by DO. [LS].
skin benign neoplasm
skin disease An integumentary system disease that is located_in skin.
sleep disorder A disease of mental health that involves disruption of sleep patterns.
sly syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
smith-lemli-opitz syndrome OMIM mapping confirmed by DO. [LS].
sost-related sclerosing bone dysplasia A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
sotos syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
sphingolipidosis
spina bifida
spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration.
spinocerebellar ataxia A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination.
spinocerebellar degeneration
spondylocostal dysostosis A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
spondyloepimetaphyseal dysplasia, strudwick type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
spondyloepiphyseal dysplasia congenita OMIM mapping confirmed by DO. [SN].
stickler syndrome OMIM mapping confirmed by DO. [SN].
strabismus
succinic semialdehyde dehydrogenase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
supravalvular aortic stenosis
sweat gland disease
syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.
syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
synostosis A dysostosis that results_in abnormal fusing of adjacent bones.
synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
systemic lupus erythematosus A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
systemic primary carnitine deficiency disease An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
tangier disease OMIM mapping confirmed by DO. [LS].
tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
tay-sachs disease OMIM mapping confirmed by DO. [SN].
teeth hard tissue disease
testicular disease
thalassemia OMIM mapping confirmed by DO. [LS].
thanatophoric dysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
thomsen disease OMIM mapping confirmed by DO. [SN].
thoracic cancer An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
thrombocytopenia-absent radius syndrome OMIM mapping confirmed by DO. [LS].
thrombophilia OMIM mapping confirmed by DO. [LS].
thrombotic thrombocytopenic purpura
thyroid gland disease An endocrine system disease that is located_in the thyroid.
thyroiditis Updating to more specific UMLS_CUI from C0029495 to C0040147.
tic disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity.
timothy syndrome An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
tooth disease
transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
treacher collins syndrome OMIM mapping confirmed by DO. [SN].
trichorhinophalangeal syndrome type ii An exostosis that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
triple-a syndrome OMIM mapping confirmed by DO. [SN].
tuberous sclerosis OMIM mapping confirmed by DO. [LS].
turner syndrome No OMIM mapping, confirmed by DO. [LS].
type 1 diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas.
tyrosinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
ullrich congenital muscular dystrophy OMIM mapping confirmed by DO. [SN].
unverricht-lundborg syndrome OMIM mapping confirmed by DO. [LS].
urea cycle disorder An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
urinary system cancer An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment.
uveal disease
uveitis
variable age at onset electroclinical syndrome
vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
vascular skin disease
vasculitis A vascular disease that is characterized by inflammation of the blood vessels.
velocardiofacial syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
vesiculobullous skin disease
visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
vitelliform macular dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
von hippel-lindau disease OMIM mapping confirmed by DO. [LS].
von willebrand's disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
waardenburg's syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
wagr syndrome A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
walker-warburg syndrome OMIM mapping confirmed by DO. [SN].
weaver syndrome OMIM mapping confirmed by DO. [LS].
wegener's granulomatosis An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
weill-marchesani syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
werner syndrome OMIM mapping confirmed by DO. [LS].
williams-beuren syndrome OMIM mapping confirmed by DO. [LS].
wilson disease OMIM mapping confirmed by DO. [SN].
wiskott-aldrich syndrome OMIM mapping confirmed by DO. [SN].
wolf-hirschhorn syndrome OMIM mapping confirmed by DO. [LS].
wolff-parkinson-white syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
wolfram syndrome A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).
wolman disease
x-linked disease A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
x-linked sideroblastic anemia OMIM mapping confirmed by DO. [LS].
x-linked sideroblastic anemia with ataxia OMIM mapping confirmed by DO. [SN].
xanthomatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
zellweger syndrome A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.