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Disease	Synonyms	Description
dracunculiasis	Infection by Dracunculus medinensis (disorder); In.. [+] Infection by Dracunculus medinensis (disorder); Infection by Dracunculus medinensis; Dracontiasis [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. [-]
dipetalonemiasis	Infection by Dipetalonema perstans (disorder) [Amb.. [+] Infection by Dipetalonema perstans (disorder) [Ambiguous]; Infection by Dipetalonema perstans (disorder); Infection by Dipetalonema perstans; Infection by Dipetalonema (disorder); dipetalonema infectious disease [-]	A filariasis that is a zoonotic infection caused b..[+] A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. [-]
disease by infectious agent	infectious disease	A disease that is the consequence of the presence ..[+] A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. [-]
cryptogenic organizing pneumonia	idiopathic bronchiolitis obliterans with organisin.. [+] idiopathic bronchiolitis obliterans with organising pneumonia; idiopathic bronchiolitis obliterans with organizing pneumonia; BOOP; bronchiolitis obliterans organizing pneumonia; Cryptogenic organizing pneumonitis; bronchiolitis obliterans organising pneumonia; cryptogenic organising pneumonia; Cryptogenic organising pneumonitis [-]	An idiopathic interstitial pneumonia characterized..[+] An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. [-]
taeniasis	Infection by Taeniarhynchus saginatus; Beef tapewo.. [+] Infection by Taeniarhynchus saginatus; Beef tapeworm infection; Taenia saginata infectious disease [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. [-]
arterial calcification of infancy	infantile arteriosclerosis; idiopathic infantile a.. [+] infantile arteriosclerosis; idiopathic infantile arterial calcification; generalized arterial calcification of infancy [-]	A vascular disease that is characterized by genera..[+] A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [-]
Borjeson-Forssman-Lehmann syndrome	intellectual deficiency-epilepsy-endocrine disorde.. [+] intellectual deficiency-epilepsy-endocrine disorders syndrome; BFLS; BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; MRXSBFL; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type [-]	An X-linked disease that is characterized by intel..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
small cell carcinoma	intermediate cell small cell carcinoma; Small cell.. [+] intermediate cell small cell carcinoma; Small cell carcinoma - intermediate cell; Small cell carcinoma, intermediate cell (morphologic abnormality) [-]	A carcinoma that is an undifferentiated neoplasm c..[+] A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. [-]
Kahrizi syndrome	intellectual disability-cataract-coloboma-kyphosis.. [+] intellectual disability-cataract-coloboma-kyphosis syndrome; intellectual disability, Kahrizi type; KHRZ [-]	A syndrome that is characterized by mental retarda..[+] A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [-]
generalized dystonia	Idiopathic torsion dystonia; idiopathic non-famili.. [+] Idiopathic torsion dystonia; idiopathic non-familial dystonia; idiopathic familial dystonia; Dystonia 12; dystonia deformans progressiva; dystonia musculorum deformans; familial dystonia; fragments of torsion dystonia; symptomatic torsion dystonia [-]	A dystonia that affects most or all of the body.
medulloblastoma	infratentorial primitive neuroectodermal tumor; br.. [+] infratentorial primitive neuroectodermal tumor; brain medulloblastoma; CNS PNET; CPNET; localized primitive neuroectodermal tumor; Medulloblastoma, histologically defined [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]
small intestine carcinoid neuroendocrine tumor	intestinal carcinoid tumour	A small intestine cancer that has_material_basis_i..[+] A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. [-]
CD40 deficiency	immunodeficiency with hyper-IgM type 3; hyper-IgM .. [+] immunodeficiency with hyper-IgM type 3; hyper-IgM syndrome due to CD40 deficiency; type 3 hyper-IgM immunodeficiency [-]	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [-]
carnitine palmitoyltransferase II deficiency	infantile carnitine palmitoyltransferase II defici.. [+] infantile carnitine palmitoyltransferase II deficiency; CPT-II; late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]
sclerocornea	isolated congenital sclerocornea	A corneal disease in which the cornea blends with ..[+] A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. [-]
renal-hepatic-pancreatic dysplasia	Ivemark's syndrome	it is usual fatal soon after birth.; A physical di..[+] A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. [-]
Vici syndrome	immunodeficiency with cleft lip/palate, cataract, .. [+] immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [-]	An autosomal recessive disease characterized by ca..[+] An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3. [-]
Schimke immuno-osseous dysplasia	immunoosseous dysplasia Schimke type; Schimke immu.. [+] immunoosseous dysplasia Schimke type; Schimke immunoosseous dysplasia; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
mitochondrial complex I deficiency	isolated NADH-ubiquinone reductase deficiency; iso.. [+] isolated NADH-ubiquinone reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated mitochondrial respiratory chain complex I deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. [-]
mitochondrial complex II deficiency	isolated succinate-ubiquinone reductase deficiency.. [+] isolated succinate-ubiquinone reductase deficiency; isolated succinate-CoQ reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated mitochondrial respiratory chain complex II deficiency [-]	A mitochondrial metabolism disease characerized by..[+] A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [-]
lethal congenital contracture syndrome 3	Israeli Bedouin type B multiple contracture syndro.. [+] Israeli Bedouin type B multiple contracture syndrome [-]	A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. [-]
arteriovenous malformations of the brain	intracranial arteriovenous malformation; cerebral .. [+] intracranial arteriovenous malformation; cerebral arteriovenous malformation [-]	An arteriovenous malformation that is located_in t..[+] An arteriovenous malformation that is located_in the brain. [-]
autosomal recessive congenital ichthyosis 4A	ichthyosis congenita IIB; ICR2B; ARCI4A; lamellar .. [+] ICR2B; ichthyosis congenita IIB; ARCI4A; lamellar ichthyosis 2 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 11	IFAH syndrome; IHS; ichthyosis-hypotrichosis syndr.. [+] IHS; IFAH syndrome; ichthyosis-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. [-]
restrictive dermopathy	Infantile restrictive dermopathy; hyperkeratosis-c.. [+] Infantile restrictive dermopathy; hyperkeratosis-contracture syndrome; lethal restrictive dermopathy; tight skin contracture syndrome; Lethal tight skin contracture syndrome [-]	A skin disease characterized by thin, tightly adhe..[+] A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. [-]
dextro-looped transposition of the great arteries	isolated ventriculoarterial discordance; congenita.. [+] isolated ventriculoarterial discordance; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; D-TGA; ventriculoarterial discordance with atrioventricular concordance [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]
microvillus inclusion disease	intractable diarrhea of infancy; congenital famili.. [+] intractable diarrhea of infancy; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; MVD [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
syndromic X-linked intellectual disability 17	intellectual disability-alacrima-achalasia syndrom.. [+] intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. [-]
right atrial isomerism	Ivemark syndrome; asplenia with cardiovascular ano.. [+] Ivemark syndrome; asplenia with cardiovascular anomalies [-]	A visceral heterotaxy characterized by complete at..[+] A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
renal hypomagnesemia 3	isolated renal hypomagnesemia; familial primary hy.. [+] isolated renal hypomagnesemia; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; HOMG3; primary hypomagnesemia due to defect in renal tubular transport of magnesium; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
congenital nongoitrous hypothryoidism 4	isolated thyrotropin deficiency; CHNG4	A congenital hypothyroidism characterized by a per..[+] A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. [-]
hereditary sensory neuropathy type 4	insensitivity to pain, congenital, with anhidrosis.. [+] insensitivity to pain, congenital, with anhidrosis; hereditary sensory neuropathy type IV [-]	A hereditary sensory neuropathy characterized by i..[+] A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. [-]
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	indeterminate bronchioloalveolar carcinoma; mixed .. [+] indeterminate bronchioloalveolar carcinoma; mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma [-]	A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). [-]
nephrotic syndrome type 7	Immunoglobulin-mediated MPGN; immunoglobulin-media.. [+] Immunoglobulin-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis [-]	A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. [-]
B-lymphoblastic leukemia/lymphoma with iAMP21	Intrachromosomal amplification of chromosome 21 (i.. [+] Intrachromosomal amplification of chromosome 21 (iAMP21); B-ALL with iAMP21 [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. [-]
congenital myopathy 6	inclusion body myopathy 3; proximal myopathy and o.. [+] inclusion body myopathy 3; proximal myopathy and ophthalmoplegia [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
CINCA Syndrome	IOMID syndrome; infantile-onset multisystem inflam.. [+] IOMID syndrome; infantile-onset multisystem inflammatory disease; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
hypogonadotropic hypogonadism	isolated congenital gonadotropin deficiency; conge.. [+] isolated congenital gonadotropin deficiency; congenital idiopathic hypogonadotropic hypogonadism [-]	A hypogonadism characterized by a impaired signall..[+] A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. [-]
hypogonadotropic hypogonadism 24 without anosmia	isolated follicle-stimulating hormone deficiency	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. [-]
aromatase excess syndrome	increased aromatase activity; AEXS; familial hyper.. [+] increased aromatase activity; AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
brain small vessel disease 1	infantile hemiparesis; autosomal dominant retinal .. [+] infantile hemiparesis; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; leukoencephalopathy with Axenfeld-Riegar anomaly; BSVD1; COL4A1-related familial vascular leukoencephalopathy [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
3-methylglutaconic aciduria type 3	Iraqi-Jewish optic atrophy plus; infantile optic a.. [+] Iraqi-Jewish optic atrophy plus; infantile optic atrophy with chorea and spastic paraplegia; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; MGA3 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
neurodegeneration with brain iron accumulation 2a	INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; .. [+] Infantile Neuroaxonal Dystrophy 1; INAD1; NBIA2a; Neurodegeneration, Pla2g6-Associated; Seitelberger Disease [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. [-]
type 1 diabetes mellitus 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. [-]
type 1 diabetes mellitus 3	Insulin-Dependent Diabetes Mellitus 3; IDDM3	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. [-]
type 1 diabetes mellitus 4	Insulin-Dependent Diabetes Mellitus 4; IDDM4	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. [-]
type 1 diabetes mellitus 5	Insulin-Dependent Diabetes Mellitus 5; IDDM5	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. [-]
type 1 diabetes mellitus 6	Insulin-Dependent Diabetes Mellitus 6; IDDM6	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. [-]
type 1 diabetes mellitus 7	Insulin-Dependent Diabetes Mellitus 7; IDDM7	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. [-]

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