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Disease	Synonyms	Description
penile benign neoplasm	neoplasm of penis (disorder); neoplasm of penis; P.. [+] neoplasm of penis; neoplasm of penis (disorder); Penile tumor [-]	n_a
Lyme disease	neuroborreliosis; Neurological Lyme disease; Bannw.. [+] Neurological Lyme disease; neuroborreliosis; Bannwarth syndrome (disorder); Bannworth's syndrome; Lyme borreliosis; lyme neuroborreliosis [-]	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. [-]
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. [-]
ureteral benign neoplasm	neoplasm of ureter (disorder); ureteral tumor	n_a
frontal lobe neoplasm	neoplasm of frontal lobe (disorder); malignant neo.. [+] 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
Wegener's granulomatosis	Necrotizing respiratory granulomatosis; Granulomat.. [+] Necrotizing respiratory granulomatosis; Granulomatosis - Wegener's; Wegener granulomatosis; Wegener's syndrome (disorder) [-]	An autoimmune disease that is located_in lung, loc..[+] An autoimmune disease that 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 marasmus (disorder); Nutritional maras.. [+] Nutritional marasmus (disorder); Nutritional marasmus; Nutritional atrophy [-]	n_a
blastomycosis	North American blastomycosis; Blastomyces Dermatit.. [+] North American blastomycosis; Blastomyces Dermatitidis Infection; Blastomycotic infection; Chicago disease; Gilchrist's disease; Infection by Blastomyces dermatitidis [-]	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 (disorder); choroid neoplasm; .. [+] neoplasm of choroid (disorder); choroid neoplasm; Choroidal tumor; malignant tumor of choroid (disorder); malignant tumor of the Choroid [-]	n_a
mucopolysaccharidosis III	naglu deficiency; N-sulphoglucosamine sulphohydrol.. [+] naglu deficiency; N-sulphoglucosamine sulphohydrolase deficiency; N-acetyl-alpha-D-glucosaminidase deficiency; heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIB - Sanfilippo syndrome B; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III; Mucopolysaccharidosis, MPS-III-B; Sanfilippo syndrome A; Sanfilippo syndrome B; 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 (disorder); Vagus nerve tu.. [+] 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	n_a
angle-closure glaucoma	Narrow cleft glaucoma; ACG - Angle-closure glaucom.. [+] Narrow cleft glaucoma; ACG - Angle-closure glaucoma; Angle Closure Glaucoma; Angle-closure glaucoma (disorder); Closed angle glaucoma; primary open-angle glaucoma with narrow angles [-]	n_a
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
abducens nerve neoplasm	neoplasm of abducens nerve (disorder); VIth Crania.. [+] 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. [-]
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 variant; Carney Comp.. [+] NAME Syndrome; Carney complex variant; Carney Complex, Type 1; Carney Complex, Type 2; Carney Syndrome; LAMB Syndrome [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
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. [-]
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. [-]
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 non-Hodgkin lymphoma that has_material_basis_in ..[+] A 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 [-]	An X-linked disease resulting from a deficiency in..[+] An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. [-]
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 [-]	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	nephrosis-neuronal dysmigration syndrome; nephrosi.. [+] nephrosis-neuronal dysmigration syndrome; nephrosis-microcephaly syndrome; Galloway syndrome; microcephaly, hiatal hernia and nephrotic syndrome [-]	An autosomal recessive disease characterized_by is..[+] An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [-]
chromosome 17q11.2 deletion syndrome, 1.4Mb	NF1 microdeletion syndrome; neurofibromatosis type.. [+] NF1 microdeletion syndrome; neurofibromatosis type 1 microdeletion syndrome; 17q11 microdeletion syndrome; Van Asperen syndrome [-]	n_a
Kabuki syndrome	Niikawa-Kuroki syndrome; Kabuki make up syndrome; .. [+] Niikawa-Kuroki syndrome; Kabuki make up syndrome; KMS [-]	A syndrome characterized by multiple congenital a..[+] 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. [-]
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 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. [-]
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. [-]
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. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	nocturnal frontal lobe epilepsy 5; ENFL5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]
autosomal dominant auditory neuropathy 1	nonsyndromic dominant auditory neuropathy; NSDAN; .. [+] NSDAN; nonsyndromic dominant auditory neuropathy; AUNA1 [-]	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. [-]
autosomal recessive congenital ichthyosis 2	nonbullous congenital ichthyosiform erythroderma 1.. [+] nonbullous congenital ichthyosiform erythroderma 1; NCIE1; ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. [-]
isolated growth hormone deficiency	non-acquired isolated growth hormone deficiency; c.. [+] non-acquired isolated growth hormone deficiency; congenital IGHD; congenital isolated GH deficiency; congenital isolated growth hormone deficiency; familial isolated growth hormone deficiency; IGHD [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
primary coenzyme Q10 deficiency 7	neonatal encephalomyopathy-cardiomyopathy-respirat.. [+] neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; coenzyme Q10 deficiency, primary, 7; COQ10D7; COQ4-related neonatal encephalomyopathy [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. [-]

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