| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
well-differentiated liposarcoma
|
atypical lipomatous tumor
|
A liposarcoma that is characterized as a slow grow.. [+]A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
[-]
|
|
|
|
optic atrophy
|
atrophy of optic disc
|
An optic nerve disease that is characterized the d.. [+]An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
[-]
|
|
|
|
Nager acrofacial dysostosis
|
acrofacial dysostosis 1, Nager type; AFD; Nager sy..
[+]
AFD; acrofacial dysostosis 1, Nager type; Nager syndrome; preaxial acrofacial dysostosis; preaxial manibulofacial dysostosis
[-]
|
An acrofacial dysostosis characterized by underdev.. [+]An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
[-]
|
5 articles
|
|
|
microglandular adenosis
|
Adenosis - breast; Adenosis of the breast
|
A breast disease that is characterized by a haphaz.. [+]A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
[-]
|
|
|
|
gliomatosis cerebri
|
Astrocytosis cerebri; Gliomatosis cerebri (morphol..
[+]
Astrocytosis cerebri; Gliomatosis cerebri (morphologic abnormality); Gliomatosis cerebri
[-]
|
A brain cancer that is characterized by a pattern .. [+]A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.
[-]
|
|
|
|
bronchitis
|
acute Bronchitis; acute bronchitis and bronchiolit..
[+]
acute Bronchitis; acute bronchitis and bronchiolitis; Chest infection; CI - Chest infection; chest cold; chronic bronchitis; recurrent wheezy bronchitis
[-]
|
A bronchial disease that is an inflammation of the.. [+]A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
[-]
|
1 articles
|
|
|
gastric diffuse adenocarcinoma
|
adenocarcinoma of Linitis Plastica type; carcinoma..
[+]
adenocarcinoma of Linitis Plastica type; carcinoma, diffuse type (morphologic abnormality); Diffuse type adenocarcinoma; diffuse type carcinoma; carcinoma, diffuse type
[-]
|
A gastric adenocarcinoma that is characterized by .. [+]A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
[-]
|
|
|
|
gastric cardia adenocarcinoma
|
adenocarcinoma of gastric cardia; adenocarcinoma o..
[+]
adenocarcinoma of gastric cardia; adenocarcinoma of Cardia of stomach
[-]
|
n_a
|
|
|
|
Bartholin's gland adenocarcinoma
|
adenocarcinoma of bartholin's gland; adenocarcinom..
[+]
adenocarcinoma of bartholin's gland; adenocarcinoma of the Bartholin's gland; Bartholin gland adenocarcinoma
[-]
|
A Bartholin's gland carcinoma that derives_from ep.. [+]A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue.
[-]
|
|
|
|
lung acinar adenocarcinoma
|
acinar adenocarcinoma of the lung
|
n_a
|
|
|
|
breast apocrine carcinoma
|
apocrine carcinoma of breast; breast Apocrine carc..
[+]
apocrine carcinoma of breast; breast Apocrine carcinoma
[-]
|
A breast adenocarcinoma that is characterized by a.. [+]A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
[-]
|
|
|
|
diffuse idiopathic skeletal hyperostosis
|
Ankylosing vertebral hyperostosis; DISH; Forestier..
[+]
Ankylosing vertebral hyperostosis; DISH; Forestier disease; Disseminated idiopathic skeletal hyperostosis
[-]
|
A calcinosis that is the calcification or a bony h.. [+]A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
[-]
|
|
|
|
Froelich syndrome
|
adiposogenital syndrome; Babinski-Froelich syndrom..
[+]
adiposogenital syndrome; Babinski-Froelich syndrome; Froehlich's syndrome; Froelich's syndrome; Froehlich syndrome
[-]
|
A hypothalamic disease that is characterized by en.. [+]A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
[-]
|
|
|
|
X-linked Aarskog syndrome
|
Aarskog-Scott syndrome; faciogenital dysplasia; Gr..
[+]
Aarskog-Scott syndrome; faciogenital dysplasia; Greig's syndrome
[-]
|
A syndromic X-linked intellectual disability affec.. [+]A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
[-]
|
|
|
|
pineal region immature teratoma
|
Atypical Pineal teratoma
|
n_a
|
|
|
|
bronchial mucus gland adenoma
|
adenoma of the Bronchial Mucus gland; adenoma of b..
[+]
adenoma of the Bronchial Mucus gland; adenoma of bronchial mucus gland
[-]
|
n_a
|
|
|
|
rheumatoid arthritis
|
Arthritis or polyarthritis, rheumatic; atrophic Ar..
[+]
Arthritis or polyarthritis, rheumatic; atrophic Arthritis
[-]
|
An arthritis that is an autoimmune disease which a.. [+]An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
[-]
|
3 articles
|
|
|
maxillary sinus adenoid cystic carcinoma
|
adenoid cystic carcinoma of maxillary sinus; adeno..
[+]
adenoid cystic carcinoma of maxillary sinus; adenoid cystic carcinoma of the maxillary sinus
[-]
|
n_a
|
|
|
|
Nijmegen breakage syndrome
|
ataxia-telangiectasia variant; Berlin breakage syn..
[+]
ataxia-telangiectasia variant; Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; Microcephaly, normal intelligence and immunodeficiency; microcephaly-immunodeficiency-lymphoreticuloma syndrome; NBS; Seemanova syndrome II; Seemanova syndrome type 2
[-]
|
A syndrome characterized by chromosomal instabilit.. [+]A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
[-]
|
1 articles
|
|
|
parathyroid adenoma
|
adenoma of the Parathyroid gland; adenoma of parat..
[+]
adenoma of the Parathyroid gland; adenoma of parathyroid
[-]
|
A parathyroid gland benign neoplam that is located.. [+]A parathyroid gland benign neoplam that is located_in the parathyroid.
[-]
|
|
|
|
maxillary sinus adenocarcinoma
|
adenocarcinoma of the maxillary sinus; adenocarcin..
[+]
adenocarcinoma of the maxillary sinus; adenocarcinoma of maxillary sinus
[-]
|
n_a
|
|
|
|
Barrett's adenocarcinoma
|
adenocarcinoma Arising in Barrett's Mucosa; Barret..
[+]
adenocarcinoma Arising in Barrett's Mucosa; Barrett adenocarcinoma
[-]
|
n_a
|
|
|
|
osteochondrosis
|
apophysitis; (Osteochondrosis NOS) or (apophysitis..
[+]
apophysitis; (Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS); Epiphyseal necrosis, NOS; osteochondritis juvenilis; Osteochondrosis not specified as adult or juvenile, of unspecified site; Epiphyseal necrosis; epiphysitis; osteochondritis; Osteochondrosis
[-]
|
An ischemic bone disease that results_in necrosis .. [+]An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
[-]
|
|
|
|
peritonitis
|
acute generalized peritonitis (disorder); acute ge..
[+]
acute generalized peritonitis (disorder); acute generalized peritonitis; primary bacterial peritonitis (disorder); Retractile mesenteritis; Retractile mesenteritis (disorder); sclerosing mesenteritis; primary bacterial peritonitis
[-]
|
A gastrointestinal system disease that involves in.. [+]A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
[-]
|
|
|
|
kidney angiomyolipoma
|
Angiomyolipoma of kidney; Angiomyolipoma of kidney..
[+]
Angiomyolipoma of kidney; Angiomyolipoma of kidney (disorder); renal Angiomyolipoma
[-]
|
n_a
|
|
|
|
breast apocrine carcinoma in situ
|
Apocrine carcinoma in situ of the breast
|
A breast carcinoma in situ that is characterized b.. [+]A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
[-]
|
|
|
|
riboflavin deficiency
|
ariboflavinosis; vitamin B2 deficiency
|
A nutritional deficiency disease that is character.. [+]A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
[-]
|
|
|
|
rheumatic myocarditis
|
acute Rheumatic Myocarditis; acute rheumatic myoca..
[+]
acute Rheumatic Myocarditis; acute rheumatic myocarditis (disorder) [Ambiguous]; acute rheumatic myocarditis (disorder); acute rheumatic myocarditis; acute rheumatic carditis; active rheumatic fever with myocarditis; Rheumatic degeneration of myocardium; Rheumatic myocarditis (disorder); Rheumatoid myocarditis (disorder); Rheumatic fever with myocarditis; Rheumatic myocarditis; Rheumatoid myocarditis
[-]
|
n_a
|
|
|
|
maple bark strippers' lung
|
alveolitis due to cryptostroma corticale; Maple ba..
[+]
alveolitis due to cryptostroma corticale; Maple bark-strippers' lung; Maple-bark strippers' lung (disorder); maple bark disease; maple bark stripper's lung; Maple-bark strippers' lung; maple bark stripper's disease
[-]
|
An opportunistic mycosis that is located_in lungs .. [+]An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
[-]
|
|
|
|
gastroesophageal reflux disease
|
Acid reflux; Gastresophageal reflux; Gastro-esopha..
[+]
Acid reflux; Gastresophageal reflux; Gastro-esophageal reflux; Gastroesophageal reflux; GERD; GERD - Gastro-esophageal reflux disease; Gastroesophageal reflux disease
[-]
|
n_a
|
1 articles
|
|
|
malignant hyperthermia
|
anesthesia related hyperthermia; malignant hyperpy..
[+]
anesthesia related hyperthermia; malignant hyperpyrexia due to anesthesia
[-]
|
A muscle tissue disease that is characterized by a.. [+]A muscle tissue 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 and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
[-]
|
|
|
|
Kaposi's sarcoma
|
anal Kaposi's sarcoma; African lymphadenopathic Ka..
[+]
anal Kaposi's sarcoma; African lymphadenopathic Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma, lung; Kaposi's sarcoma-associated herpesvirus (KSHV); lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; prostate Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma, skin; pulmonary Kaposi's sarcoma; cardiac Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of palate; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of the prostate; lymph node Kaposi's sarcoma; Palate Kaposi's sarcoma; penis Kaposi's sarcoma; gastric Kaposi's sarcoma; Kaposi's sarcoma of lung; Kaposi's sarcoma of soft tissues
[-]
|
A connective tissue cancer that derives_from lymph.. [+]A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
[-]
|
|
|
|
neurofibromatosis
|
Acoustic neurofibromatosis; Neurofibromatosis 1; n..
[+]
Acoustic neurofibromatosis; Neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type 4; neurofibromatosis type IV; Recklinghausen's neurofibromatosis; type IV neurofibromatosis of riccardi; von Reklinghausen disease; neurofibromatosis type 2; central Neurofibromatosis; peripheral Neurofibromatosis
[-]
|
n_a
|
2 articles
|
|
|
intermediate coronary syndrome
|
Anginal chest pain at rest; Angina at rest; (Angin..
[+]
Angina at rest; Anginal chest pain at rest; (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction); Impending infarction (disorder); Preinfarction angina; Preinfarction angina (disorder); Impending infarction; Worsening angina; Unstable angina
[-]
|
n_a
|
|
|
|
rosacea
|
Acne, erythematosa; Acne roscea
|
n_a
|
|
|
|
learning disability
|
Academic skill disorder; learning disorder
|
A specific developmental disorder that involves di.. [+]A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
[-]
|
1 articles
|
|
|
sideroblastic anemia
|
Anemia, hypochromic with iron loading; ANEMIA SIDE..
[+]
Anemia, hypochromic with iron loading; ANEMIA SIDEROBLASTIC
[-]
|
A microcytic anemia where the bone marrow produces.. [+]A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
[-]
|
|
|
|
psoriatic arthritis
|
arthritis psoriatica; arthropathic psoriasis; psor..
[+]
arthropathic psoriasis; arthritis psoriatica; psoriatic arthropathy
[-]
|
An arthritis that is characterized by joint inflam.. [+]An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
[-]
|
|
|
|
cutaneous leishmaniasis
|
Asian Desert Cutaneous Leishmaniasis; diffuse cuta..
[+]
Asian Desert Cutaneous Leishmaniasis; diffuse cutaneous leishmaniasis; Leproid leishmaniasis
[-]
|
A leishmaniasis that involves skin infection cause.. [+]A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
[-]
|
|
|
|
variola minor
|
Alastrim; cottonpox; Variola minor; whitepox; milk..
[+]
Alastrim; cottonpox; Variola minor; whitepox; milkpox
[-]
|
A smallpox that results_in milder infection, locat.. [+]A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
[-]
|
|
|
|
mucocutaneous leishmaniasis
|
American cutaneous leishmaniasis; American mucocut..
[+]
American cutaneous leishmaniasis; American mucocutaneous leishmaniasis (disorder); American mucocutaneous leishmaniasis; American Cutaneous Leishmaniasis; Cutaneous leishmaniasis, American; Mucocutaneous leishmaniasis, (American); Mucocutaneous leishmaniasis, American; New World cutaneous leishmaniasis; Mucocutaneous leishmaniasis
[-]
|
A leishmaniasis that involves a chronic inflammato.. [+]A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
[-]
|
|
|
|
Pallister-Hall syndrome
|
A syndrome that is characterized by hypothalamic h..
[+]
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.; Pallister-Hall syndrome (disorder)
[-]
|
A syndrome that is characterized by hypothalamic h.. [+]A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
[-]
|
1 articles
|
|
|
citrullinemia
|
ASS deficiency; deficiency of citrulline-aspartate..
[+]
ASS deficiency; deficiency of citrulline-aspartate ligase; classic citrullinemia
[-]
|
An inherited urea cycle disorder that involves the.. [+]An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
[-]
|
|
|
|
hyperargininemia
|
Arginase deficiency; argininemia; Arginase deficie..
[+]
argininemia; Arginase deficiency; Arginase deficiency (disorder); deficiency of canavanase
[-]
|
An urea cycle disorder that involves arginase defi.. [+]An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
[-]
|
|
|
|
status asthmaticus
|
Asthma with status asthmaticus; Severe asthma atta..
[+]
Asthma with status asthmaticus; Severe asthma attack
[-]
|
An acute asthma that is characterized by an acute .. [+]An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
[-]
|
|
|
|
tracheitis
|
acute tracheitis; chronic tracheitis
|
A tracheal disease which involves bacterial infect.. [+]A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
[-]
|
|
|
|
croup
|
acute Obstructive Laryngitis; acute laryngotracheo..
[+]
acute Obstructive Laryngitis; acute laryngotracheobronchitis; Croup syndrome; Laryngotracheobronchitis
[-]
|
A respiratory system infectious disease that invol.. [+]A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
[-]
|
|
|
|
epiglottitis
|
acute epiglottitis and supraglottitis; acute epigl..
[+]
acute epiglottitis and supraglottitis; acute epiglottitis
[-]
|
An upper respiratory tract disease which involves .. [+]An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
[-]
|
|
|
|
steatotic liver disease
|
alcoholic fatty liver; Fatty change of liver; Stea..
[+]
alcoholic fatty liver; Fatty change of liver; Steatosis of liver (disorder); hepatic lipidosis; Steatosis of liver; cryptogenic steatotic liver disease; fatty liver disease; hepatic steatosis; SLD
[-]
|
A lipid storage disease characterized by the accum.. [+]A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
[-]
|
3 articles
|
|
|
choanal atresia
|
Atresia of nares; Imperforate nares; posterior cho..
[+]
Atresia of nares; Imperforate nares; posterior choanal atresia
[-]
|
n_a
|
1 articles
|
10 matches
|
