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Disease	Synonyms	Description
carvone allergic contact dermatitis	allergic contact dermatitis to levo-carvone	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger (-)-carvone. [-]
4-tert-butylphenol allergic contact dermatitis	allergic contact dermatitis to PTBP; allergic cont.. [+] allergic contact dermatitis to PTBP; allergic contact dermatitis to butylphen [-]	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. [-]
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 autosomal dominant disease that is has material..[+] An autosomal dominant disease that is 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. [-]
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 a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. [-]
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. [-]
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, PARTIAL OR COMPLETE; P450scc DEFICIENCY [-]	n_a
X-linked sideroblastic anemia with ataxia	Anemia sideroblastic and spinocerebellar ataxia; X.. [+] Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anemia and ataxia [-]	n_a
congenital disorder of glycosylation type I	ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); ALG6-CDG (CD.. [+] ALG9-CDG (CDG-1l); ALG8-CDG (CDG-1h); ALG6-CDG (CDG-1c); ALG3-CDG (CDG-1d); ALG2-CDG (CDG-1i); ALG12-CDG (CDG-1g); ALG11-CDG (CDG-1p); ALG1-CDG (CDG-1k); DOLK-CDG (CDG-1m); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q) [-]	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; Achalasia-Addisonianism-Alacrim.. [+] Allgrove Syndrome; Achalasia-Addisonianism-Alacrimia syndrome [-]	n_a
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 adenoid cystic carcinoma; paranasal sinus mucoepidermoid carcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus [-]	A respiratory system cancer that is located_in the..[+] A respiratory system cancer that is located_in the paranasal sinuses. [-]
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	n_a
transthyretin amyloidosis	Amyloidosis, hereditary, transthyretin-related; Co.. [+] Amyloidosis, hereditary, transthyretin-related; Corino de Andrade's disease; familial amyloid polyneuropathy; Familial transthyretin amyloidosis; transthyretin-related hereditary amyloidosis; TTR amyloidosis [-]	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; Freeman-Sheldon syndrome variant; Sheldon-Hall syndrome [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]
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	An autosomal dominant disease characterized by fam..[+] An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. [-]
congenital adrenal hyperplasia	adrenal hyperplasia 1; congenital lipoid adrenal h.. [+] adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia; lipoid CAH [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [-]
Troyer syndrome	autosomal recessive spastic paraplegia type 20; au.. [+] autosomal recessive spastic paraplegia type 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
synucleinopathy	alpha Synucleinopathies; Synucleinopathies	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [-]
reticular dysgenesis	aleukocytosis; De Vaal disease	A severe combined immunodeficiency that is the mos..[+] A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [-]
gluten allergy	allergy to gluten; gluten allergic reaction	A food allergy that develops from an immune reacti..[+] A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. [-]
sideroblastic anemia with spinocerebellar ataxia	ASAT	n_a
pain agnosia	analgesia	An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive and process pain. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis-1	amyotrophic lateral sclerosis and/or frontotempora.. [+] amyotrophic lateral sclerosis and/or frontotemporal dementia; ALSFTD; frontotemporal dementia and/or amyotrophic lateral sclerosis 1; frontotemporal dementia and/or motor neuron disease; FTDMND; FTDALS1 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
Carpenter syndrome	acrocephalopolysyndactyly type II	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
Mast syndrome	autosomal recessive spastic paraplegia type 21; au.. [+] autosomal recessive spastic paraplegia type 21; autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; SPG21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
Robinow syndrome	acral dysostosis with facial and genital abnormali.. [+] acral dysostosis with facial and genital abnormalities; fetal face syndrome; Robinow dwarfism [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]
megalocornea	anterior megalophthalmos; congenital anterior mega.. [+] anterior megalophthalmos; congenital anterior megalophthalmia [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]
uvulitis	acute uvulitis	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. [-]
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/pal.. [+] anhidrotic ectodermal dysplasia with cleft lip/palate [-]	An autosomal dominant disease characterized by abn..[+] An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
chylomicron retention disease	Anderson disease; CMRD	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
Sakati-Nyhan syndrome	acrocephalopolysyndactyly Type III; acrocephalopol.. [+] acrocephalopolysyndactyly Type III; acrocephalopolysyndactyly type 3; ACPS with leg hypoplasia; Sakati-Nyhan-Tisdale syndrome; Sakati syndrome [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
punctate palmoplantar keratoderma type III	acrokeratoelastoidosis of Costa; punctate palmopla.. [+] acrokeratoelastoidosis of Costa; punctate palmoplantar hyperkeratosis type 3; punctate palmoplantar keratoderma type 3 [-]	n_a
Parkinson's disease 2	autosomal recessive juvenile Parkinson's disease 2.. [+] autosomal recessive juvenile Parkinson's disease 2; autosomal recessive juvenile Parkinson disease 2 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. [-]
Parkinson's disease 7	autosomal recessive early-onset Parkinson's diseas.. [+] autosomal recessive early-onset Parkinson's disease 7; autosomal recessive early-onset Parkinson disease 7 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [-]
granular corneal dystrophy type II	avellino corneal dystrophy; CGD2; combined granula.. [+] avellino corneal dystrophy; CGD2; combined granular-lattice corneal dystrophy; granular corneal dystrophy type 2 [-]	n_a
Reis-Bucklers corneal dystrophy	anterior limiting membrane dystrophy type I; corne.. [+] anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy; granular corneal dystrophy type III; RBCD [-]	n_a
Thiel-Behnke corneal dystrophy	anterior limiting membrane dystrophy type II; corn.. [+] anterior limiting membrane dystrophy type II; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II; TBCD; Waardenburg-Jonker corneal dystrophy [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Holt-Oram syndrome	atrio-digital syndrome; atriodigital dysplasia; he.. [+] atriodigital dysplasia; atrio-digital syndrome; heart-hand syndrome [-]	A syndrome characterized by congenital anomalies l..[+] A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. [-]
familial erythrocytosis 2	autosomal recessive benign erythrocytosis; Chuvash.. [+] autosomal recessive benign erythrocytosis; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; Chuvash polycythemia; ECYT2 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
respiratory allergy	airway allergy	A hypersensitivity reaction type I disease located..[+] A hypersensitivity reaction type I disease located in the respiratory tract. [-]
Kufor-Rakeb syndrome	autosomal recessive Parkinson disease 9; autosomal.. [+] autosomal recessive Parkinson disease 9; autosomal recessive juvenile onset Parkinson disease 9 [-]	A disease that is characterized by supranuclear ga..[+] A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36. [-]
B-cell adult acute lymphocytic leukemia	adult B-lymphoblastic leukemia; adult b-cell lymph.. [+] adult B-lymphoblastic leukemia; adult b-cell lymphocytic leukemia; adult b-cell acute lymphoblastic leukemia; adult B acute lymphoblastic leukemia [-]	n_a
hereditary motor and sensory neuropathy with agenesis of the corpus callosum	Andermann syndrome; agenesis of the corpus callosu.. [+] Andermann syndrome; agenesis of the corpus callosum with peripheral neuropathy; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; peripheral neuropathy associated with agenesis of the corpus callosum [-]	A neuropathy that has_material_basis_in homozygous..[+] A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. [-]

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