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Disease	Synonyms	Description
A53 diffuse large B-cell lymphoma	A53 DLBCL;	A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. [-]
Aagenaes syndrome	Cholestasis-edema syndrome, Norwegian type (disord.. [+] Cholestasis-edema syndrome, Norwegian type (disorder); Cholestasis-edema syndrome, Norwegian type; [-]	A syndrome that is characterized by congenital hyp..[+] A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. [-]
Aarskog syndrome	faciodigitogenital syndrome; faciogenital dysplasi.. [+] faciodigitogenital syndrome; faciogenital dysplasia; [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
abacavir allergy	ABC allergy;	A drug allergy that has_allergic_trigger abacavir.
ABCD syndrome	albinism, block lock, cell migration disorder of t.. [+] albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness; ABCDS; albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness; [-]	A syndrome that is characterized by albinism, blac..[+] A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). [-]
abdominal aortic aneurysm	AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;	An aortic aneurysm that is located_in the abdomina..[+] An aortic aneurysm that is located_in the abdominal aorta. [-]
abdominal obesity-metabolic syndrome		A syndrome that is characterized by abdominal obes..[+] A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. [-]
abdominal obesity-metabolic syndrome 1	abdominal obesity-metabolic syndrome 1; metabolic .. [+] abdominal obesity-metabolic syndrome 1; metabolic syndrome X; dysmetabolic syndrome X; [-]	An abdominal obesity-metabolic syndrome characteri..[+] An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. [-]
abdominal obesity-metabolic syndrome 3		An abdominal obesity-metabolic syndrome that has_m..[+] An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. [-]
abdominal obesity-metabolic syndrome 4		An abdominal obesity-metabolic syndrome that is ch..[+] An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. [-]
abdominal tuberculosis		An extrapulmonary tuberculosis that is located_in ..[+] An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. [-]
abducens nerve neoplasm	neoplasm of abducens nerve (disorder); neoplasm of.. [+] neoplasm of abducens nerve (disorder); neoplasm of abducens nerve; VIth Cranial nerve tumors; [-]	n_a
abducens nerve palsy	Abducens nerve disorder; disorder of abducent nerv.. [+] Abducens nerve disorder; disorder of abducent nerve; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); Sixth or abducens nerve palsy; Abducens nerve weakness; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; VIth nerve disorder; VIth nerve Paralysis; abducens nerve disease; abducens palsy; Sixth cranial nerve disorder; Sixth nerve palsy; [-]	A cranial nerve palsy characterized by lateral rec..[+] A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. [-]
abetalipoproteinemia	familial hypobetalipoproteinemia; microsomal trigl.. [+] familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease; [-]	A hypolipoproteinemia that is characterized by an ..[+] A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. [-]
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type;	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
abnormality of glucagon secretion	Glucagon secretion abnormality;	n_a
abnormal pupillary function		n_a
abnormal retinal correspondence		n_a
abnormal threshold of rods	abnormal dark adaptation curve;	n_a
Abruzzo-Erickson syndrome	CHARGE-like syndrome, X-linked; cleft palate-colob.. [+] CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome; [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
absence epilepsy		An electroclinical syndrome characterized by the o..[+] An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. [-]
absolute glaucoma	blind hypertensive eye;	A glaucoma that is characterized by a total loss o..[+] A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. [-]
acalculous cholecystitis	acute cholecystitis without calculus (disorder); c.. [+] acute cholecystitis without calculus (disorder); cholecystitis without calculus (disorder); acute acalculous cholecystitis; acute cholecystitis without calculus; cholecystitis without calculus; [-]	A cholecystitis characterized by the absence of ga..[+] A cholecystitis characterized by the absence of gallstones. [-]
acanthocephaliasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. [-]
acantholytic acanthoma	Acantholytic acanthoma;	n_a
acantholytic squamous cell skin carcinoma	acantholytic squamous cell carcinoma of skin ; Aca.. [+] acantholytic squamous cell carcinoma of skin ; Acantholytic squamous cell carcinoma of skin (disorder); Acantholytic squamous cell skin carcinoma; acantholytic squamous cell carcinoma of skin; [-]	n_a
acantholytic variant squamous cell breast carcinoma		A breast squamous cell carcinoma that is character..[+] A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. [-]
acanthoma		n_a
acanthosis nigricans	Acanthosis nigricans (disorder); AN - Acanthosis n.. [+] Acanthosis nigricans (disorder); AN - Acanthosis nigricans; Keratosis nigricans; keratosis nigricans; [-]	A pigmentation disease characterized by velvety, d..[+] A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. [-]
acatalasia	deficiency of catalase (disorder); acatalasemia; d.. [+] deficiency of catalase (disorder); acatalasemia; deficiency of catalase; [-]	A peroxisomal disease characterized by loss of cat..[+] A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. [-]
accessory nerve disease	disorder of accessory nerve (disorder); disorder o.. [+] disorder of accessory nerve (disorder); disorder of 11th nerve; Eleventh nerve disorder; disorder of accessory [11th] nerve; disorder of accessory nerve; [-]	A glossopharyngeal nerve disease that is character..[+] A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). [-]
accommodative esotropia		n_a
accommodative spasm	Spasm of accommodation;	n_a
aceruloplasminemia		An iron metabolism disease that has_material_basis..[+] 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. [-]
achalasia	achalasia of cardia; achalasia of esophagus; cardi.. [+] achalasia of cardia; achalasia of esophagus; cardiospasm; esophageal achalasia; hypertensive lower esophageal sphincter; Lack of reflex relaxation of lower oesophageal sphincter; [-]	An esophageal disease that is characterized by an ..[+] An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. [-]
achalasia microcephaly syndrome	Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYN.. [+] Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYNDROME; [-]	A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). [-]
Achard syndrome		A syndrome that involves arachnodactyly, receding ..[+] A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. [-]
acheiropody	Acheiropodia; Horn-Kolb Syndrome;	An osteochondrodysplasia characterized by a lack o..[+] An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. [-]
Achenbach syndrome	Paroxysmal hematoma of the finger (disorder); Paro.. [+] Paroxysmal hematoma of the finger (disorder); Paroxysmal hematoma of the finger; [-]	n_a
Achilles bursitis	Achilles bursitis or tendinitis; Capped hock; Hagl.. [+] Achilles bursitis or tendinitis; Capped hock; Haglund's deformity; Haglund's disease; [-]	n_a
achondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [-]
achondrogenesis type IA	achondrogenesis Houston-Harris type;	An achondrogenesis that results_in abnormal ossifi..[+] An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [-]
achondrogenesis type IB	achondrogenesis Fraccaro type;	An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [-]
achondrogenesis type II		An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [-]
achondroplasia	Achondroplastic physique; Chondrodystrophia; osteo.. [+] Achondroplastic physique; Chondrodystrophia; osteosclerosis congenita; [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. [-]
achromatopsia	ACHM; Monochromatism;	A color blindness that is characterized by a conge..[+] A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. [-]
achromatopsia 2	ACHM2; RMCH2; rod monochromacy 2; rod monochromati.. [+] ACHM2; RMCH2; rod monochromacy 2; rod monochromatism 2; [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. [-]
achromatopsia 3	ACHM1; ACHM3; RMCH1; rod monochromacy 1; rod monoc.. [+] ACHM1; ACHM3; RMCH1; rod monochromacy 1; rod monochromatism 1; Pingelapese blindness; [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]
achromatopsia 4	ACHM4;	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. [-]
achromatopsia 7	ACHM7;	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. [-]

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