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Disease	Synonyms	Description	Articles	Phenotypes
urethral intrinsic sphincter deficiency	Intrinsic (urethral) sphincter deficiency [ISD]	n_a
aspergillosis	Infection due to Aspergillus	An opportunistic mycosis that involves a spectrum ..[+] An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. [-]
female infertility of uterine origin	Infertility, female, of uterine origin	A uterine disease that is characterized by an inab..[+] A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. [-]
dental fluorosis	Intrinsic enamel discolouration of fluorosis; Mott.. [+] Intrinsic enamel discolouration of fluorosis; Mottled teeth; Mottling of enamel [-]	A tooth disease characterized by enamel discolorat..[+] A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. [-]
uterine inflammatory disease	Inflammatory disease of the uterus	A uterine disease that is characterized by inflamm..[+] A uterine disease that is characterized by inflammation. [-]
hepatic infarction	infarct of liver	n_a
Pthirus pubis infestation	Infestation by Phthirus pubis; Infestation by Phth.. [+] Infestation by Phthirus pubis; Infestation by Phthirus pubis (disorder); crabs; Pediculosis Pubis; Phthiriasis pubis; Phthirus pubis; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Phthirus pubis [pubic louse]; Pediculus pubis; Phthirus/pediculus pubis - pubic lice - crabs [-]	A lice infestation that involves parasitic infesta..[+] A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. [-]
opisthorchiasis	Infection by Opisthorchis	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. [-]
adhesions of uterus	Intrauterine synechiae; Intrauterine adhesions; Ba.. [+] Intrauterine adhesions; Intrauterine synechiae; Band of uterus [-]	A uterine disease that is characterized by the pre..[+] A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. [-]
uterus interstitial leiomyoma	Intramural leiomyoma of uterus (disorder); Intramu.. [+] Intramural leiomyoma of uterus (disorder); Intramural leiomyoma of uterus [-]	An uterine fibroid that is located within the myom..[+] An uterine fibroid that is located within the myometrium. [-]
phaeohyphomycosis	Infection by dematiacious fungi [Phaehyphomycosis].. [+] Infection by dematiacious fungi [Phaehyphomycosis]; Infection by dematiacious fungi; phaehyphomycosis [-]	A primary systemic mycosis located_in subcutaneous..[+] A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. [-]
selective IgG deficiency disease	Immunoglobin G subclass deficiency; Selective immu.. [+] Immunoglobin G subclass deficiency; Selective immunoglobulin G deficiency (disorder); Selective Immunoglobulin G Subclass deficiency; Selective IgG Immunodeficiency; Selective deficiency of IgG; Selective immunoglobulin G deficiency [-]	A dysgammaglobulinemia that is characterized by is..[+] A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. [-]
gastrointestinal tularemia	intestinal tularaemia; Enteric tularemia	A tularemia that results in formation of ulcerativ..[+] A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. [-]
shoulder impingement syndrome	Impingement syndrome of shoulder region; Impingeme.. [+] Impingement syndrome of shoulder region; Impingement syndrome of shoulder region (disorder); Shoulder impingement syndrome (disorder) [Ambiguous]; Subacromial impingement (disorder); Shoulder impingement syndrome; Subacromial impingement [-]	n_a
suppurative thyroiditis	Infectious thyroiditis; Infectious thyroiditis (di.. [+] Infectious thyroiditis; Infectious thyroiditis (disorder); acute suppurative thyroiditis (disorder); Suppurative thyroiditis; acute suppurative thyroiditis [-]	n_a
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; Infection by Dipetalone.. [+] Infection by Dipetalonema; 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. [-]
primary pulmonary hypertension	Idiopathic pulmonary arterial hypertension	A chronic pulmonary heart disease characterized by..[+] A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. [-]
Hirata disease	insulin autoimmune syndrome	An autoimmune disease of endocrine system characte..[+] An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. [-]
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. [-]	40 articles
cryptogenic organizing pneumonia	idiopathic bronchiolitis obliterans with organisin.. [+] idiopathic bronchiolitis obliterans with organising pneumonia; idiopathic bronchiolitis obliterans with organizing pneumonia; bronchiolitis obliterans organizing pneumonia; BOOP; bronchiolitis obliterans organising pneumonia; cryptogenic organising pneumonia; Cryptogenic organizing pneumonitis; 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. [-]
West syndrome	Infantile spasms syndrome	An infancy electroclinical syndrome that is charac..[+] An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. [-]	1 articles
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; BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; BFLS [-]	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); Small cell carcinoma, intermediate cell [-]	A carcinoma that is an undifferentiated neoplasm c..[+] A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. [-]	1 articles
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 non-familial dystonia; Idiopathic torsi.. [+] idiopathic non-familial dystonia; Idiopathic torsion dystonia; idiopathic familial dystonia; Dystonia 12; dystonia musculorum deformans; familial dystonia; fragments of torsion dystonia; symptomatic torsion dystonia; dystonia deformans progressiva [-]	A dystonia that affects most or all of the body.
medulloblastoma	infratentorial primitive neuroectodermal tumor; CN.. [+] infratentorial primitive neuroectodermal tumor; CNS PNET; localized primitive neuroectodermal tumor; brain medulloblastoma; CPNET; 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. [-]	1 articles	6 matches
small intestine carcinoid neuroendocrine tumor	intestinal carcinoid tumour; 'intestinal carcinoid.. [+] intestinal carcinoid tumour; 'intestinal carcinoid tumour' [-]	A neuroendocrine tumor that has_material_basis_in ..[+] A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. [-]
carnitine palmitoyltransferase II deficiency	infantile carnitine palmitoyltransferase II defici.. [+] infantile carnitine palmitoyltransferase II deficiency; CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; late-onset 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. [-]	1 articles
Vici syndrome	immunodeficiency with cleft lip/palate, cataract, .. [+] immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [-]	A syndrome characterized by callosal agenesis, cat..[+] A syndrome 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 synd.. [+] immunoosseous dysplasia Schimke type; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immunoosseous dysplasia [-]	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-CoQ reductase deficiency; isola.. [+] isolated succinate-CoQ reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-ubiquinone reductase deficiency; isolated mitochondrial respiratory chain complex II deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized 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 [-]	A central nervous system benign neoplasm that deri..[+] A central nervous system benign neoplasm that derives_from endothelial cells and 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 heterozygous 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; tight skin contracture syndrome; lethal restrictive dermopathy; 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. [-]	1 articles
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; DTGA1 [-]	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. [-]	1 articles
microvillus inclusion disease	intractable diarrhea of infancy; congenital microv.. [+] intractable diarrhea of infancy; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities [-]	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 that is characterized by com..[+] A visceral heterotaxy that is 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 that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
bullous congenital ichthyosiform erythroderma	ichthyosis bullosa of Siemens; superficial epiderm.. [+] ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis; bullous type ichthyosis [-]	An ichthyosis characterized by congenital erythema..[+] An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
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; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; 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. [-]
Vulto-van Silfout-de Vries syndrome	intellectual developmental disorder with impaired .. [+] intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; IDDISBAS; autosomal dominant mental retardation 24; MRD24; autosomal dominant non-syndromic intellectual disability 24; VSVS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. [-]
congenital nongoitrous hypothyroidism 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. [-]

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