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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
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. [-]	1 articles
autosomal dominant auditory neuropathy 1	NSDAN; nonsyndromic dominant auditory neuropathy; .. [+] nonsyndromic dominant auditory neuropathy; NSDAN; 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	NCIE1; nonbullous congenital ichthyosiform erythro.. [+] NCIE1; nonbullous congenital ichthyosiform erythroderma 1; 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 isolated GH deficiency; familial isolated growth hormone deficiency; congenital isolated growth hormone deficiency; congenital IGHD; 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. [-]
Y-linked spermatogenic failure 2	nonobstructive Y-linked spermatogenic failure; SPG.. [+] nonobstructive Y-linked spermatogenic failure; SPGFY2 [-]	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. [-]
hereditary lymphedema I	Nonne-Milroy lymphedema; congenital primary lymphe.. [+] Nonne-Milroy lymphedema; congenital primary lymphedema; LMPH1; PCL; Milroy disease; hereditary lymphedema type I [-]	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. [-]
progressive familial intrahepatic cholestasis 5	NR1H4 deficiency; PFIC5	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. [-]
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. [-]
primary autosomal recessive microcephaly 15	neurodevelopmental disorder with progressive micro.. [+] neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities; NEDMISBA; MCPH15 [-]	A primary autosomal recessive microcephaly charact..[+] A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. [-]
schwannomatosis 1	neurofibromatosis 3; SMARCB1-related schwannomatos.. [+] neurofibromatosis 3; SMARCB1-related schwannomatosis; SWN1 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. [-]
schwannomatosis 2	neurofibromatosis 3; LZTR1-related schwannomatosis.. [+] neurofibromatosis 3; LZTR1-related schwannomatosis; SWN2 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. [-]
Legius syndrome	NF1-like syndrome; neurofibromatosis type 1-like s.. [+] NF1-like syndrome; neurofibromatosis type 1-like syndrome; LGSS [-]	A RASopathy characterized by multiple cafe-au-lait..[+] A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. [-]
Halperin-Birk syndrome	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLE.. [+] NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB; HLBKS [-]	A syndrome characterized by structural brain defec..[+] A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. [-]
otospondylomegaepiphyseal dysplasia, autosomal recessive	NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDR.. [+] NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDROME; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; OSMEDB [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. [-]
intestinal pseudo-obstruction	neuronal intestinal dysplasia; Chronic intestinal .. [+] neuronal intestinal dysplasia; Chronic intestinal pseudo-obstruction [-]	A colonic disease that is characterized by bowel o..[+] A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. [-]
mitochondrial DNA depletion syndrome 6	Navajo neurohepatopathy; MPV17-related hepatocereb.. [+] Navajo neurohepatopathy; MPV17-related hepatocerebral mitochondrial DNA depletion syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. [-]
multiple mitochondrial dysfunctions syndrome 1	NFU1 deficiency	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. [-]

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