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Disease	Synonyms	Description	Articles	Phenotypes
bronchopulmonary dysplasia	Neonatal chronic lung disease; neonatal chronic re.. [+] Neonatal chronic lung disease; neonatal chronic respiratory disease; Bronchopulmonary dysplasia of newborn (disorder); Perinatal bronchopulmonary dysplasia; Bronchopulmonary dysplasia of newborn; Chronic lung disease of prematurity; Respiratory insufficiency [-]	A lung disease that is characterized by underdevel..[+] A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. [-]
Lyme disease	Neurological Lyme disease; neuroborreliosis; Bannw.. [+] neuroborreliosis; Neurological Lyme disease; Bannwarth syndrome (disorder); Bannworth's syndrome; Lyme borreliosis; lyme neuroborreliosis; Bannwarth syndrome [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. [-]	1 articles
myopia	near-sightedness; near vision; short-sightedness	A refractive error characterized by the inability ..[+] A refractive error characterized by the inability to see farther objects clearly. [-]	1 articles
ureteral benign neoplasm	neoplasm of ureter (disorder); neoplasm of ureter; .. [+] neoplasm of ureter; neoplasm of ureter (disorder); ureteral tumor [-]	n_a
frontal lobe neoplasm	neoplasm of frontal lobe; neoplasm of frontal lobe.. [+] neoplasm of frontal lobe; neoplasm of frontal lobe (disorder); malignant neoplasm of frontal lobe; malignant neoplasm of frontal lobe (disorder); tumor of Frontal Lobe [-]	n_a
mediastinum neurofibroma	Neurofibroma of mediastinum	n_a
granulomatosis with polyangiitis	Necrotizing respiratory granulomatosis; Granulomat.. [+] Necrotizing respiratory granulomatosis; Granulomatosis - Wegener's; Wegener granulomatosis; Wegener's syndrome (disorder); Wegener granulomatosis, formerly [-]	An autoimmune disease that is characterized by nec..[+] An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. [-]
marasmus	Nutritional atrophy; Nutritional marasmus; Nutriti.. [+] Nutritional marasmus; Nutritional atrophy; Nutritional marasmus (disorder) [-]	A protein-energy malnutrition that is characterize..[+] A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. [-]
blastomycosis	North American blastomycosis; Blastomyces Dermatit.. [+] North American blastomycosis; Blastomyces Dermatitidis Infection; Chicago disease; Infection by Blastomyces dermatitidis; Gilchrist's disease; Blastomycotic infection [-]	A primary systemic mycosis that results_in a syste..[+] A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. [-]
choroid cancer	neoplasm of choroid; neoplasm of choroid (disorder.. [+] neoplasm of choroid; neoplasm of choroid (disorder); choroid neoplasm; malignant tumor of the Choroid; malignant tumor of choroid (disorder); Choroidal tumor; malignant tumor of choroid [-]	n_a
mucopolysaccharidosis III	N-sulphoglucosamine sulphohydrolase deficiency; na.. [+] N-sulphoglucosamine sulphohydrolase deficiency; naglu deficiency; N-acetyl-alpha-D-glucosaminidase deficiency; heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III-B; Sanfilippo syndrome A; Sanfilippo syndrome B; MPS IIIB - Sanfilippo syndrome B; Mucopolysaccharidosis, MPS-III; Sanfilippo's syndrome [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [-]
vagus nerve neoplasm	neoplasm of vagus nerve; neoplasm of vagus nerve (.. [+] neoplasm of vagus nerve; neoplasm of vagus nerve (disorder); Vagus nerve tumors [-]	n_a
background diabetic retinopathy	Non proliferative diabetic retinopathy; Non-Prolif.. [+] Non proliferative diabetic retinopathy; Non-Proliferative Diabetic Retinopathy [-]	n_a
hyperinsulinemic hypoglycemia	nesidioblastosis; Islet cell hyperplasia; persiste.. [+] nesidioblastosis; Islet cell hyperplasia; persistent hyperinsulinemia hypoglycemia of infancy [-]	A carbohydrate metabolic disorder that involves lo..[+] A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. [-]
bejel	Nonvenereal endemic syphilis; Njovera	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. [-]
tetanus neonatorum	neonatal tetanus; Tetanus neonatorum (disorder)	A tetanus that occurs in newborn babies when the b..[+] A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. [-]
low tension glaucoma	Normal tension glaucoma	An open-angle glaucoma characterized by increased ..[+] An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. [-]
angle-closure glaucoma	Narrow cleft glaucoma; ACG - Angle-closure glaucom.. [+] Narrow cleft glaucoma; ACG - Angle-closure glaucoma; Angle-closure glaucoma (disorder); Closed angle glaucoma; primary open-angle glaucoma with narrow angles; Angle Closure Glaucoma; Angle-closure glaucoma [-]	A glaucoma characterized by closure of the anterio..[+] A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. [-]
kwashiorkor	Nutritional oedema with dyspigmentation of skin an.. [+] Nutritional oedema with dyspigmentation of skin and/or hair; Nutritional edema with dyspigmentation of skin and hair; Kwashiokor [-]	A protein-energy malnutrition that is characterize..[+] A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. [-]
vestibular nystagmus	Nystagmus associated with disorder of the vestibul.. [+] Nystagmus associated with disorder of the vestibular system [-]	n_a	1 articles
abducens nerve neoplasm	neoplasm of abducens nerve; neoplasm of abducens n.. [+] neoplasm of abducens nerve; neoplasm of abducens nerve (disorder); VIth Cranial nerve tumors [-]	n_a
central neurocytoma	Neurolipocytoma	n_a
disease of cellular proliferation	neoplasm; cell process disease	A disease that is characterized by abnormally rapi..[+] A disease that is characterized by abnormally rapid cell division. [-]	144 articles	95 matches
La Crosse encephalitis	Neuroinvasive California encephalitis virus infect.. [+] Neuroinvasive California encephalitis virus infection; California Encephalitis; California virus encephalitis [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. [-]
polycystic echinococcosis	neotropical echinococcosis; human polycystic hydat.. [+] neotropical echinococcosis; human polycystic hydatid disease [-]	An echinococcosis that is caused by the larvae of ..[+] An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. [-]
primary amebic meningoencephalitis	Naegleria fowleri infection	A parasitic protozoa infectious disease that invol..[+] A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. [-]
Farber lipogranulomatosis	N-laurylsphingosine deacylase deficiency; N-LAURYL.. [+] N-laurylsphingosine deacylase deficiency; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; Acid Ceramidase Deficiency; Farber Disease; acid ceramidase deficiency; Farber disease [-]	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. [-]
Carney complex	NAME Syndrome; Carney Complex, Type 2; Carney Synd.. [+] NAME Syndrome; Carney Complex, Type 2; Carney Syndrome; Carney Complex, Type 1; LAMB Syndrome; Carney complex variant [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
proteasome-associated autoinflammatory syndrome 1	Nakajo-Nishimura syndrome; NKJO; JOINT CONTRACTURE.. [+] NKJO; Nakajo-Nishimura syndrome; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; CANDLE; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; JMP syndrome; PRAAS1 [-]	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. [-]
hereditary lymphedema	Nonne-Milroy lymphedema; Milroy's disease	A lymphedema commonly located_in legs, caused_by c..[+] A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [-]	1 articles
biliary tract benign neoplasm	neoplasm of extrahepatic bile ducts; neoplasm of e.. [+] neoplasm of extrahepatic bile ducts; neoplasm of extrahepatic bile ducts (disorder); extrahepatic bile duct neoplasm; tumor of the extrahepatic bile duct [-]	A hepatobiliary benign neoplasm located_in the bil..[+] A hepatobiliary benign neoplasm located_in the biliary tract. [-]
Athabaskan brainstem dysgenesis syndrome	NAVAJO BRAINSTEM SYNDROME	A brain disease that is characterized by brainstem..[+] A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [-]
cerebral folate receptor alpha deficiency	Neurodegeneration due to cerebral folate transport.. [+] Neurodegeneration due to cerebral folate transport deficiency [-]	A vitamin metabolic disorder that has_material_bas..[+] A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. [-]
Chanarin-Dorfman syndrome	neutral lipid storage disease; Chanarin-Dorfman sy.. [+] neutral lipid storage disease; Chanarin-Dorfman syndrome [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [-]
mature T-cell and NK-cell lymphoma	NK-T cell lymphoma; mature T-cell and natural kill.. [+] NK-T cell lymphoma; mature T-cell and natural killer cell lymphoma [-]	A T-cell non-Hodgkin lymphoma that has_material_ba..[+] A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. [-]
Ogden syndrome	N-terminal acetyltransferase deficiency; N-alpha-a.. [+] N-terminal acetyltransferase deficiency; N-alpha-acetyltransferase; OGDNS; X-linked Malformation and Infantile Lethality Syndrome [-]	A syndrome characterized by postnatal growth failu..[+] A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. [-]
Muckle-Wells syndrome	neutrophilic urticaria; MWS	A syndrome characterized by episodic skin rash, ar..[+] A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. [-]
connective tissue benign neoplasm	neoplasm of soft tissue; neoplasm of soft tissues; .. [+] neoplasm of soft tissues; neoplasm of soft tissue; soft tissue benign neoplasm; tumor of the soft tissue; mesenchymal tissue neoplasm [-]	A musculoskeletal system benign neoplasm that is l..[+] A musculoskeletal system benign neoplasm that is located_in connective tissue. [-]
dentatorubral-pallidoluysian atrophy	Naito-Oyanagi disease; DRPLA; Haw River Syndrome	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 2	neonatal mitochondrial encephalocardiomyopathy due.. [+] neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency; MC5DN2 [-]	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. [-]
Galloway-Mowat syndrome 1	nephrosis-neuronal dysmigration syndrome; nephrosi.. [+] nephrosis-neuronal dysmigration syndrome; nephrosis-microcephaly syndrome; Galloway syndrome; microcephaly, hiatal hernia and nephrotic syndrome; autosomal recessive spinocerebellar ataxia 5; SCAR5 [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
chromosome 17q11.2 deletion syndrome	NF1 microdeletion syndrome; neurofibromatosis type.. [+] NF1 microdeletion syndrome; neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome; Van Asperen syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. [-]
Kabuki syndrome	Niikawa-Kuroki syndrome; Kabuki make up syndrome; .. [+] Niikawa-Kuroki syndrome; Kabuki make up syndrome; KMS [-]	A syndrome characterized by multiple congenital an..[+] A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [-]	4 articles	27 matches
Perlman syndrome	nephroblastomatosis, fetal ascites, macrosomia and.. [+] nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor; nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism [-]	A syndrome characterized by polyhydramnios with ne..[+] A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [-]
chondrodysplasia-pseudohermaphroditism syndrome	Nivelon-Nivelon-Mabille syndrome; chondrodysplasia.. [+] Nivelon-Nivelon-Mabille syndrome; chondrodysplasia-disorder of sex development syndrome [-]	A syndrome characterized by the clinical features ..[+] A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. [-]
autosomal recessive congenital ichthyosis	non bullous congenital ichthyosiform erythroderma; .. [+] non bullous congenital ichthyosiform erythroderma; ARCI; lamellar ichthyosis [-]	An ichthyosis that is characterized by autosomal r..[+] An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. [-]
autosomal dominant nocturnal frontal lobe epilepsy 1	nocturnal frontal lobe epilepsy 1; ENFL1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]	1 articles
autosomal dominant nocturnal frontal lobe epilepsy 2	nocturnal frontal lobe epilepsy 2; ENFL2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]	2 articles
autosomal dominant nocturnal frontal lobe epilepsy 3	nocturnal frontal lobe epilepsy 3; ENFL3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	nocturnal frontal lobe epilepsy 4; ENFL4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]

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