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Disease	Synonyms	Description	Articles
thyrocalcitonin secretion disease	disorder of thyrocalcitonin secretion (disorder); .. [+] disorder of thyrocalcitonin secretion (disorder); disorder of thyrocalcitonin secretion [-]	n_a
Vagus nerve disease	disorder of vagus nerve; disorder of pneumogastric.. [+] disorder of vagus nerve; disorder of pneumogastric [10th] nerve; disorder of vagus nerve (disorder); disorder of vagal nerve; Vagus nerve disorder [-]	n_a
velocardiofacial syndrome	deletion 22q11.2 syndrome; 22q11 Deletion Syndrome.. [+] deletion 22q11.2 syndrome; 22q11 Deletion Syndrome; Shprintzen syndrome; VCF-Velocardiofacial syndrome [-]	A chromosomal deletion disease that has_material_b..[+] A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. [-]
hiatus hernia	Diaphragmatic - hiatus -hernia; hiatal hernia	n_a
myoclonic cerebellar dyssynergia	Dyssynergia cerebellaris myoclonica; progressive c.. [+] Dyssynergia cerebellaris myoclonica; progressive cerebellar tremor [-]	n_a
mucopolysaccharidosis II	deficiency of iduronate-2-sulphatase; Hunter's syn.. [+] deficiency of iduronate-2-sulphatase; Hunter's syndrome; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder); Hunter syndrome; Mucopolysaccharidosis, MPS-II [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. [-]
mucopolysaccharidosis VI	deficiency of N-acetylgalactosamine-4-sulfatase; d.. [+] deficiency of N-acetylgalactosamine-4-sulfatase; deficiency of N-acetylgalactosamine-4-sulfatase (disorder); arylsulfatase B deficiency; Maroteaux - Lamy syndrome; Maroteaux-Lamy syndrome; MPS VI - Maroteaux-Lamy syndrome [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. [-]
Sly syndrome	deficiency of beta-glucuronidase; mucopolysacchari.. [+] deficiency of beta-glucuronidase; mucopolysaccharidosis VII; beta-glucuronidase deficiency; MPS VII - Sly syndrome [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. [-]
mucopolysaccharidosis IV	deficiency of N-acetylgalactosamine-6-sulphatase; .. [+] deficiency of N-acetylgalactosamine-6-sulphatase; deficiency of chondroitinsulphatase; chondroosteodystrophy; galactosamine-6-sulfatase deficiency; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis, MPS-IV-A (disorder); Morquio A disease; Mucopolysaccharidosis type IVB; Osteochondrodystrophy; Mucopolysaccharidosis, MPS-IV [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. [-]
alcoholic cardiomyopathy	Dilated cardiomyopathy secondary to alcohol; Dilat.. [+] Dilated cardiomyopathy secondary to alcohol; Dilated cardiomyopathy secondary to alcohol (disorder); Alcoholic cardiomyopathy; Alcohol-induced heart muscle disease [-]	n_a
acute dacryocystitis	Dacryocystitis - acute	n_a
tinea unguium	Dermatophytosis of nail; Dermatophytic onychia; de.. [+] Dermatophytic onychia; Dermatophytosis of nail; dermatophytic onychomycosis; cellulitis and abscess; cellulitis and abscess of finger; cellulitis and abscess of gluteal region; cellulitis and abscess of trunk; Tinea unguium; cellulitis and abscess of buttock; cellulitis and abscess of face; cellulitis and abscess of finger and toe; cellulitis and abscess of upper arm and forearm; Onychomycosis due to dermatophyte [-]	A dermatophytosis that results_in fungal infection..[+] A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. [-]
protein-deficiency anemia	deficiency anemia; Anemia due to protein deficienc.. [+] deficiency anemia; Anemia due to protein deficiency (disorder); Protein-deficiency anemia (disorder); Protein-deficiency anemia NOS (disorder); Protein-deficiency anaemia; protein-deficiency anaemia; Protein-deficiency anemia; Anemia due to protein deficiency [-]	A nutritional deficiency disease that is character..[+] A nutritional deficiency disease that is characterized by inadequate protein intake. [-]
porphyria	disorder of porphyrin metabolism; disorder of porp.. [+] disorder of porphyrin metabolism; disorder of porphyrin and hem metabolism; Hematoporphyria; Porphyrinopathy [-]	An inherited metabolic disorder that involves cert..[+] An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [-]	1 articles
tinea profunda	Deep seated dermatophytosis; Granuloma trichophyti.. [+] Deep seated dermatophytosis; Granuloma trichophyticum; Majocchi's granuloma [-]	A tinea corporis that results_in fungal infection ..[+] A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. [-]
tinea manuum	Dermatophytosis of hand; Tinea manus	A dermatophytosis that results_in fungal skin infe..[+] A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. [-]
childhood disintegrative disease	Disintegrative psychosis; Disintegrative psychosis.. [+] Disintegrative psychosis; Disintegrative psychosis NOS (disorder); Heller's syndrome; Symbiotic psychosis [-]	A pervasive developmental disorder that is a rare ..[+] A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. [-]
secondary Parkinson disease	disorder presenting primarily with parkinsonism; s.. [+] disorder presenting primarily with parkinsonism; secondary parkinsonism (disorder) [Ambiguous]; secondary parkinsonism, unspecified; secondary parkinsonism, unspecified (disorder); Symptomatic parkinsonism (disorder); secondary parkinsonism (disorder); Symptomatic parkinsonism; secondary Parkinsonism; secondary parkinsonism [-]	n_a
optic disk drusen	Drusen of optic disc; optic nerve head drusen	n_a
alveolar periostitis	Dry tooth socket; Dry socket; Alveolar periostitis.. [+] Dry socket; Dry tooth socket; Alveolar periostitis (disorder); Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder); Alveolitis of jaw; Alveolar periostitis [-]	n_a
patent foramen ovale	Defect, Patent or persistent, ostium secundum; Atr.. [+] Defect, Patent or persistent, ostium secundum; Atrial septal defect within oval fossa; Persistent ostium secundum; Ostium secundum type atrial septal defect; foramen ovale patent [-]	n_a
anodontia	Developmental absence of tooth; Total anodontia of.. [+] Developmental absence of tooth; Total anodontia of permanent and deciduous teeth; Complete absence of teeth [-]	A tooth disease that is characterized by complete ..[+] A tooth disease that is characterized by complete absence of permanent teeth. [-]
hypoglossal nerve disease	disorder of hypoglossal nerve; disorder of 12th ne.. [+] disorder of hypoglossal nerve; disorder of 12th nerve; disorder of XII nerve; disorder of hypoglossal nerve (disorder); disorder of hypoglossal [12th] nerve [-]	A glossopharyngeal nerve disease that is located_i..[+] A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). [-]
lymphogranuloma venereum	Durand-Nicolas-Favre disease; Lymphogranuloma ingu.. [+] Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Strumous bubo; Poradenitis inguinale; Climatic or tropical bubo [-]	A commensal bacterial infectious disease that resu..[+] A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. [-]
patent ductus arteriosus	ductus arteriosus, Patent; Patent ductus Botalli	n_a
trochlear nerve disease	disorder of trochlear nerve; Superior oblique musc.. [+] disorder of trochlear nerve; Superior oblique muscle innervation disorder; Trochlear nerve disorder, NOS; Trochlear nerve disorder [-]	n_a
red-green color blindness	Deutan defect; Deuteranopia; Reduced red-green dis.. [+] Deuteranopia; Deutan defect; Reduced red-green discrimination [-]	n_a
root caries	Dental caries of root surface; Cementum caries; Ro.. [+] Dental caries of root surface; Cementum caries; Root caries [-]	n_a
hypophosphatasia	deficiency of alkaline phosphatase; deficiency of .. [+] deficiency of alkaline phosphatase; deficiency of alkaline phosphatase (disorder) [Ambiguous]; deficiency of alkaline phosphatase (disorder); childhood hypophosphatasia (disorder); hypophospatasia, childhood; childhood hypophosphatasia [-]	A syndrome characterized by disruption of minerali..[+] A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. [-]
abdominal obesity-metabolic syndrome 1	dysmetabolic syndrome X; abdominal obesity-metabol.. [+] dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1; metabolic 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. [-]
vulvar dystrophy	Dystrophy of vulva	A vulvar disease that is characterized as irregula..[+] A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. [-]
systemic primary carnitine deficiency disease	deficiency of plasma-membrane carnitine transporte.. [+] deficiency of plasma-membrane carnitine transporter; carnitine transporter deficiency; carnitine uptake defect; renal carnitine transport defect (disorder); renal carnitine transport defect; primary carnitine deficiency [-]	An amino acid metabolic disorder that involves def..[+] 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. [-]
Fabry disease	deficiency of melibiase; Alpha-galactosidase A def.. [+] deficiency of melibiase; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; alpha galactosidase deficiency; Fabry's disease; Fabry Disease, Cardiac Variant [-]	A sphingolipidosis that is characterized by the bu..[+] A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. [-]
argininosuccinic aciduria	deficiency of argininosuccinate lyase; deficiency .. [+] deficiency of argininosuccinate lyase; deficiency of argininosuccinate lyase (disorder); Argininosuccinate lyase deficiency (disorder); arginosuccinase deficiency; Argininosuccinate lyase deficiency; argininosuccinic acidemia [-]	An amino acid metabolic disorder that involves the..[+] An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. [-]
Larsen syndrome	dominant larsen syndrome	A syndrome that is characterized by autosomal domi..[+] A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. [-]
olivopontocerebellar atrophy	Dejerine-Thomas syndrome; Thomas' syndrome; WADIA-.. [+] Dejerine-Thomas syndrome; Thomas' syndrome; WADIA-SWAMI SYNDROME [-]	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. [-]
phenytoin allergy	Dilantin allergy	A drug allergy that has_allergic_trigger phenytoin..[+] A drug allergy that has_allergic_trigger phenytoin. [-]
succinylcholine allergy	dicholine succinate allergy; succinocholine allerg.. [+] dicholine succinate allergy; succinocholine allergy; sux allergy; suxamethonium allergy [-]	A drug allergy that has_allergic_trigger succinylc..[+] A drug allergy that has_allergic_trigger succinylcholine. [-]
tubocurarine allergy	DTC allergy	A drug allergy that has_allergic_trigger tubocurar..[+] A drug allergy that has_allergic_trigger tubocurarine. [-]
tinea barbae	dermatophytosis of beard	A dermatophytosis that results_in fungal infection..[+] A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. [-]
nonepidermolytic palmoplantar keratoderma	diffuse nonepidermolytic palmomplantar keratoderma.. [+] diffuse nonepidermolytic palmomplantar keratoderma; tylosis; Unna-Thost Syndrome; Thost-Unna Syndrome [-]	A palmoplantar keratosis characterized by a well-d..[+] A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. [-]
familial partial lipodystrophy	Dunnigan Syndrome; Koberling-Dunnigan Syndrome	A partial lipodystrophy characterized by abnormal ..[+] A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [-]
Brugada syndrome	Dream disease; Brugada type idiopathic ventricular.. [+] Dream disease; Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; Bangungut; SUNDS [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]	4 articles
Buruli ulcer disease	Daintree ulcer; Bairnsdale ulcer; Searle's ulcer; .. [+] Daintree ulcer; Bairnsdale ulcer; Searle's ulcer; Searl ulcer; Mossman ulcer [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Sertoli cell-only syndrome	DEL CASTILLO SYNDROME; Germinal Cell Aplasia	A male infertility disease characterized by male s..[+] A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. [-]
Charcot-Marie-Tooth disease type 3	DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDRO.. [+] DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDROME [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. [-]
congenital disorder of glycosylation type I	DPM3-CDG (CDG-1o); DOLK-CDG (CDG-1m); DPM2-CDG (CD.. [+] DOLK-CDG (CDG-1m); DPM3-CDG (CDG-1o); DPM2-CDG (CDG-1u); DPM1-CDG (CDG-1e); DPAGT1-CDG (CDG-1j); ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); MPDU1-CDG (CDG-1f); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); ALG12-CDG (CDG-1g); MPI-CDG (CDG-1b) [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. [-]
Bjornstad syndrome	deafness-pili torti-hypogonadism syndrome; BJS; PT.. [+] deafness-pili torti-hypogonadism syndrome; BJS; PTD [-]	A syndrome that is characterized by early onset of..[+] A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
Qazi Markouizos syndrome	Dysharmonic skeletal maturation - muscular fibre d.. [+] Dysharmonic skeletal maturation - muscular fibre disproportion; Qazi-Markouizos syndrome [-]	A syndrome that is characterized by hypotonia, con..[+] A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [-]
fibular hypoplasia and complex brachydactyly	Du Pan syndrome; acromesomelic dysplasia-2B	An acromesomelic dysplasia that is characterized b..[+] An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. [-]

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