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Disease	Synonyms	Description	Articles
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); VIth Crania.. [+] neoplasm of abducens nerve (disorder); VIth Cranial nerve tumors; neoplasm of abducens nerve; [-]	n_a
abducens nerve palsy	Abducens nerve disorder; Abducens nerve weakness; .. [+] Abducens nerve disorder; Abducens nerve weakness; disorder of abducent nerve; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); VIth nerve disorder; VIth nerve Paralysis; Sixth cranial nerve disorder; Sixth or abducens nerve palsy; Sixth nerve palsy; abducens nerve disease; abducens 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. [-]	1 articles
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. [-]
abnormal pupillary function		n_a
abnormal retinal correspondence		n_a
abnormal threshold of rods	abnormal dark adaptation curve;	n_a
abnormality of glucagon secretion	Glucagon secretion abnormality;	n_a
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 cholecystitis without calculus; cholecystitis without calculus; acute acalculous cholecystitis; [-]	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		n_a
acanthoma		n_a
acanthosis nigricans	Acanthosis nigricans (disorder); Keratosis nigrica.. [+] Acanthosis nigricans (disorder); Keratosis nigricans; keratosis nigricans; Acanthosis nigricans; AN - Acanthosis nigricans; [-]	A pigmentation disease characterized by velvety, d..[+] A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. [-]	1 articles
acatalasia	deficiency of catalase (disorder); deficiency of c.. [+] deficiency of catalase (disorder); deficiency of catalase; acatalasemia; [-]	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 11th nerve; disorder of accessory [11t.. [+] disorder of 11th nerve; disorder of accessory [11th] nerve; Eleventh nerve disorder; disorder of accessory nerve (disorder); 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; esoph.. [+] achalasia of cardia; achalasia of esophagus; esophageal achalasia; Lack of reflex relaxation of lower oesophageal sphincter; hypertensive lower esophageal sphincter; cardiospasm; [-]	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). [-]
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. [-]
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	osteosclerosis congenita; Achondroplastic physique.. [+] osteosclerosis congenita; Achondroplastic physique; Chondrodystrophia; [-]	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. [-]	3 articles
achromatopsia 2	ACHM2; rod monochromacy 2; rod monochromatism 2; R.. [+] ACHM2; rod monochromacy 2; rod monochromatism 2; RMCH2; [-]	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. [-]	1 articles
achromatopsia 3	ACHM1; Pingelapese blindness; RMCH1; rod monochrom.. [+] ACHM1; Pingelapese blindness; RMCH1; rod monochromacy 1; ACHM3; rod monochromatism 1; [-]	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. [-]	1 articles
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. [-]
acidophil adenoma	Eosinophil adenoma;	n_a
acinar cell carcinoma	acinic cell carcinoma; acinar cell carcinoma (morp.. [+] acinic cell carcinoma; acinar cell carcinoma (morphologic abnormality); [-]	A carcinoma that has_material_basis_in abnormally ..[+] A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. [-]
acinar cell cystadenocarcinoma	acinar cell cystadenocarcinoma (morphologic abnorm.. [+] acinar cell cystadenocarcinoma (morphologic abnormality); pancreatic acinar cell cystadenocarcinoma; [-]	n_a
acinic cell breast carcinoma		n_a
acne	frontalis acne; acne vulgaris; Acne varioliformis;.. [+] frontalis acne; acne vulgaris; Acne varioliformis; [-]	A sebaceous gland disease characterized by areas o..[+] A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. [-]
acneiform dermatitis		n_a
acoustic neuroma	Vestibular Neurilemmoma; Vestibular schwannoma;	n_a
acquired angioedema		An angioedema that is characterized by an acquired..[+] An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. [-]
acquired color blindness	acquired color vision deficiency; acquired colour .. [+] acquired color vision deficiency; acquired colour vision deficiencies; acquired colour vision deficiency; acquired color vision deficiencies; acquired colour blindness; [-]	n_a
acquired gastric outlet stenosis	adult hypertrophic pyloric stenosis; acquired hype.. [+] adult hypertrophic pyloric stenosis; acquired hypertrophic pyloric stenosis; [-]	n_a
acquired generalized lipodystrophy	Lawrence syndrome;	A complete generalized lipodystrophy that is chara..[+] A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
acquired hemangioma		n_a
acquired hyperkeratosis	acquired Keratoderma; acquired keratoderma (disord.. [+] acquired Keratoderma; acquired keratoderma (disorder); acquired keratoderma NOS; Keratoderma, acquired; acquired keratoderma; acquired keratoderma NOS (disorder); Keratoderma - acquired; [-]	n_a

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