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Disease	Synonyms	Description	Articles	Phenotypes
bird fancier's lung	Avian hypersensitivity Pneumonitis; bird fancier l.. [+] Avian hypersensitivity Pneumonitis; bird fancier lung; Bird-fanciers' lung; pigeon breeder's lung; bird breeder's lung; Bird-fancier's lung; poultry worker's lung [-]	An extrinsic allergic alveolitis which is caused b..[+] An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. [-]
necrotizing ulcerative gingivitis	Angina - Vincents; acute necrotizing ulcerative gi.. [+] Angina - Vincents; acute necrotizing ulcerative gingivostomatitis; ANUG; acute necrotizing ulcerative gingivitis; acute necrotising ulcerative gingivitis [Ambiguous]; acute ulceromembranous gingivitis; acute necrotizing ulcerative gingivostomatitis (disorder); acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivitis; (Vincent's angina) or (trench mouth); early acute necrotising gingivitis; Trench mouth; Vincent's Angina; Vincent's angina - pharyngitis (disorder); Vincent's disease; Vincent's infection, any site; Vincent angina; Vincent's angina NOS; trench mouth; Vincent's angina; Vincent's angina - pharyngitis [-]	n_a
epicondylitis	andrel epicondylitis; archer's elbow; golfer's elb.. [+] archer's elbow; andrel epicondylitis; golfer's elbow; hockey elbow; medial epicondylitis; shooter's elbow; Lateral epicondylitis; tennis elbow [-]	A bone inflammation disease that results_in inflam..[+] A bone inflammation disease that results_in inflammation located_in epicondyle. [-]
renal artery atheroma	Atherosclerosis of renal artery (disorder); Athero.. [+] Atherosclerosis of renal artery (disorder); Atherosclerosis of renal artery; renal atherosclerosis [-]	n_a
boutonneuse fever	African tick typhus; African tick typhus (disorder.. [+] African tick typhus; African tick typhus (disorder); african tick typhus; Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); marseilles fever; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
malignant anus melanoma	anal melanoma; malignant melanoma of anus (disorde.. [+] anal melanoma; malignant melanoma of anus (disorder); malignant melanoma of anus [-]	n_a
frozen shoulder	adhesions-capsulitis,shoulder; Adhesive capsulitis.. [+] adhesions-capsulitis,shoulder; Adhesive capsulitis of shoulder [-]	A connective tissue disease characterized by restr..[+] A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. [-]
neurogenic arthropathy	Arthropathy associated with neurological disorder; .. [+] Arthropathy associated with neurological disorder; Charcot's joint; Neuropathic arthropathy (& Charcot's); Charcot's arthropathy; Neuropathic arthropathy [-]	n_a
skin epithelioid hemangioma	Angiolymphoid Cutaneous hyperplasia; epithelioid h.. [+] Angiolymphoid Cutaneous hyperplasia; epithelioid hemangioma of skin (disorder); epithelioid hemangioma of skin [-]	n_a
suppurative thyroiditis	acute suppurative thyroiditis; acute suppurative t.. [+] acute suppurative thyroiditis; acute suppurative thyroiditis (disorder); Suppurative thyroiditis; Infectious thyroiditis (disorder); Infectious thyroiditis [-]	n_a
chronic closed-angle glaucoma	Anatomical narrow angle glaucoma; chronic narrow a.. [+] Anatomical narrow angle glaucoma; chronic narrow angle glaucoma; chronic angle-closure glaucoma [-]	A primary angle-closure glaucoma characterized by ..[+] A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. [-]
hemangioma of orbit	Angioma of the orbit	n_a
Wolman disease	acute infantile lysosomal acid lipase deficiency; .. [+] acute infantile lysosomal acid lipase deficiency; Acid esterase deficiency; Acid lipase deficiency; Wolman xanthomatosis; Xanthomatosis, familial; Wolman's disease; Wolman's or triglyceride storage type III disease; complete cholesterol ester hydrolase deficiency; complete LAL deficiency; complete LIPA deficiency; complete lysosomal acid lipase deficiency [-]	A lysosomal acid lipase deficiency characterized b..[+] A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. [-]
Fabry disease	alpha galactosidase deficiency; Angiokeratoma Corp.. [+] alpha galactosidase deficiency; Angiokeratoma Corporis Diffusum; Alpha-galactosidase A deficiency; Fabry's disease; deficiency of melibiase; 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. [-]
fucosidosis	A-fucosidase deficiency; alpha fucosidase deficien.. [+] A-fucosidase deficiency; alpha fucosidase deficiency [-]	n_a
rete testis adenocarcinoma	adenocarcinoma of rete testis; adenocarcinoma of t.. [+] adenocarcinoma of rete testis; adenocarcinoma of the rete testis [-]	A rete testis neoplasm that derives_from epithelia..[+] A rete testis neoplasm that derives_from epithelial cells of glandular origin. [-]
Pfeiffer syndrome	acrocephalosyndactylia type V	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. [-]
beta-ketothiolase deficiency	alpha-methylacetoaceticaciduria; 2-methyl-3-hydrox.. [+] alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; 3-ketothiolase deficiency; 3-oxothiolase deficiency; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. [-]
vascular type Ehlers-Danlos syndrome	autosomal dominant type IV Ehlers-Danlos syndrome; .. [+] autosomal dominant type IV Ehlers-Danlos syndrome [-]	An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. [-]
Saethre-Chotzen syndrome	acrocephalosyndactyly type III	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. [-]
hypohidrotic ectodermal dysplasia	anhidrotic ectodermal dysplasia 3; Ectodermal Dysp.. [+] anhidrotic ectodermal dysplasia 3; Ectodermal Dysplasia 1, Anhydrotic; Hypohidrotic X-linked ectodermal dysplasia (disorder); Christ-Siemens-Touraine Syndrome; Hypohidrotic X-linked ectodermal dysplasia [-]	An ectodermal dysplasia that is characterized by m..[+] An ectodermal dysplasia 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). [-]
diphenylmethane-4,4'-diisocyanate allergic asthma	allergic asthma to MDI	An isocyanates allergic asthma that has_allergic_t..[+] An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. [-]
toluene meta-diisocyanate allergic asthma	allergic asthma to TDI	An isocyanates allergic asthma that has_allergic_t..[+] An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. [-]
benzoic acid allergic contact dermatitis	allergic contact dermatitis to benzoate	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger benzoic acid. [-]
melphalan allergy	Alkeran allergy	A drug allergy that has_allergic_trigger melphalan..[+] A drug allergy that has_allergic_trigger melphalan. [-]
neomycin sulfate allergic contact dermatitis	allergic contact dermatitis to neomycin sulphate	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. [-]
formaldehyde allergic contact dermatitis	allergic contact dermatitis to formalin	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger formaldehyde. [-]
granulomatous amebic encephalitis	Acanthamoeba granulomatous encephalitis; Acanthamo.. [+] Acanthamoeba granulomatous encephalitis; Acanthamoeba encephalitis; Granulomatous Amebic Encephalitis due to Acanthamoeba; granulomatous amoebic encephalitis [-]	A parasitic protozoa infectious disease that resul..[+] A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. [-]
familial adenomatous polyposis	adenomatous polyposis of the colon	An intestinal disease that has_material_basis_in m..[+] An intestinal disease that has_material_basis_in 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. [-]	3 articles
Danon disease	ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
campomelic dysplasia	Acampomelic Campomelic Dysplasia	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. [-]	3 articles
Farber lipogranulomatosis	acid ceramidase deficiency; Acid Ceramidase Defici.. [+] acid ceramidase deficiency; Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; Farber disease; N-laurylsphingosine deacylase deficiency [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. [-]
Gamstorp-Wohlfart syndrome	autosomal recessive neuromyotonia and axonal neuro.. [+] autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting [-]	A syndrome characterized by progressive weakness a..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]	1 articles
nonphotosensitive trichothiodystrophy 4	AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; .. [+] AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; HAIR-BRAIN SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
congenital adrenal insufficiency	Adrenal insufficiency, congenital, with 46,XY sex .. [+] Adrenal insufficiency, congenital, with 46,XY sex reversal; ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY [-]	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. [-]
X-linked sideroblastic anemia with ataxia	Anemia, sideroblastic, spinocerebellar ataxia; Ane.. [+] Anemia, sideroblastic, spinocerebellar ataxia; Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anemia and ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with ataxia [-]	A sideroblastic anemia that is characterized by de..[+] A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. [-]
congenital disorder of glycosylation type I	ALG9-CDG (CDG-1l); ALG12-CDG (CDG-1g); ALG8-CDG (C.. [+] ALG12-CDG (CDG-1g); ALG9-CDG (CDG-1l); ALG8-CDG (CDG-1h); ALG6-CDG (CDG-1c); ALG3-CDG (CDG-1d); ALG2-CDG (CDG-1i); ALG11-CDG (CDG-1p); ALG1-CDG (CDG-1k); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
triple-A syndrome	Allgrove Syndrome; AAAS; Achalasia-Addisonianism-A.. [+] AAAS; Allgrove Syndrome; Achalasia-Addisonianism-Alacrimia syndrome [-]	A syndrome characterized by achalasia, adrenal ins..[+] A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. [-]
paranasal sinus cancer	adenoid cystic carcinoma of paranasal sinus; adeno.. [+] adenoid cystic carcinoma of paranasal sinus; adenoid cystic carcinoma of Accessory sinus; Epidermoid carcinoma of the paranasal sinus; Mucoepidermoid carcinoma of Accessory sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus; paranasal sinus mucoepidermoid carcinoma; paranasal sinus adenoid cystic carcinoma [-]	A respiratory system cancer that is located_in the..[+] A respiratory system cancer that is located_in the paranasal sinuses. [-]
ocular albinism 1	Albinism ocular 1; ocular albinism	An eye disease that is characterized by reduced pi..[+] An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. [-]		5 matches
familial visceral amyloidosis	AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidos.. [+] AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; OSTERTAG TYPE AMYLOIDOSIS; systemic nonneuropathic amyloidosis [-]	An amyloidosis that is characterized by the abnorm..[+] An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. [-]
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gels.. [+] AGel amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; gelsolin amyloidosis; Lattice corneal dystrophy type II [-]	An amyloidosis that is characterized by abnormal d..[+] An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [-]
transthyretin amyloidosis	ATTR amyloidosis; ATTRm amyloidosis; Amyloidosis, .. [+] ATTRm amyloidosis; ATTR amyloidosis; Amyloidosis, hereditary, transthyretin-related; familial amyloid polyneuropathy; transthyretin-related hereditary amyloidosis; TTR amyloidosis; Familial transthyretin amyloidosis; paramyloidosis; Corino de Andrade's disease [-]	An amyloidosis that is characterized by a loss of ..[+] 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. [-]
distal arthrogryposis	Arthrogryposis Multiplex Congenita; Freeman-Sheldo.. [+] Arthrogryposis Multiplex Congenita; Freeman-Sheldon syndrome; Sheldon-Hall syndrome; Freeman-Sheldon syndrome variant [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]	3 articles
familial atrial fibrillation	ATFB	An atrial fibrillation that has_material_basis_in ..[+] An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. [-]
bestrophinopathy	autosomal recessive bestrophinopathy	n_a
dyskinetic cerebral palsy	Athetoid Dyskinetic Cerebral Palsy	A cerebral palsy that is caused by damage to the e..[+] A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. [-]
Blau syndrome	ARTHROCUTANEOUVEAL GRANULOMATOSIS; Jabs syndrome; .. [+] ARTHROCUTANEOUVEAL GRANULOMATOSIS; Jabs syndrome; BLAUS [-]	A syndrome characterized by familial granulomatous..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]
spinocerebellar ataxia with axonal neuropathy 2	autosomal recessive spinocerebellar ataxia with ax.. [+] autosomal recessive spinocerebellar ataxia with axonal neuropathy 2; autosomal recessive spinocerebellar ataxia 1; ataxia with oculomotor apraxia type 2; AOA2; SCAN2; SCAR1; spinocerebellar ataxia with axonal neuropathy type 2 [-]	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. [-]
fibular hypoplasia and complex brachydactyly	acromesomelic dysplasia-2B; Du Pan syndrome	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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