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Disease	Synonyms	Description	Articles
necrotizing ulcerative gingivitis	early acute necrotising gingivitis; (Vincent's ang.. [+] early acute necrotising gingivitis; (Vincent's angina) or (trench mouth); acute necrotising ulcerative gingivitis; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotizing ulcerative gingivostomatitis (disorder); acute ulceromembranous gingivitis; Trench mouth; Vincent's Angina; Vincent's angina - pharyngitis (disorder); Vincent's disease; Vincent's infection, any site; acute necrotising ulcerative gingivitis [Ambiguous]; acute necrotizing ulcerative gingivitis; ANUG; Vincent angina; Vincent's angina NOS; acute necrotizing ulcerative gingivostomatitis; Angina - Vincents; trench mouth; Vincent's angina; Vincent's angina - pharyngitis [-]	n_a
gastrointestinal tularemia	Enteric tularemia; intestinal tularaemia	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. [-]
skin epithelioid hemangioma	epithelioid hemangioma of skin; epithelioid hemang.. [+] epithelioid hemangioma of skin; epithelioid hemangioma of skin (disorder); Angiolymphoid Cutaneous hyperplasia [-]	n_a
sphenoid sinus squamous cell carcinoma	Epidermoid carcinoma of the Sphenoidal sinus	A squamous cell carcinoma that is located_in the s..[+] A squamous cell carcinoma that is located_in the sphenoid sinus. [-]
Clouston syndrome	ectodermal dysplasia 2, Clouston type; Clouston's .. [+] ectodermal dysplasia 2, Clouston type; Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome; Hidrotic ectodermal dysplasia syndrome (disorder); hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. [-]
autosomal recessive type IV Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, recessive type 4; Ehlers-D.. [+] Ehlers-Danlos syndrome, recessive type 4; Ehlers-Danlos syndrome, recessive type 4 (disorder) [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. [-]
hypohidrotic ectodermal dysplasia	Ectodermal Dysplasia 1, Anhydrotic; anhidrotic ect.. [+] Ectodermal Dysplasia 1, Anhydrotic; anhidrotic ectodermal dysplasia 3; Hypohidrotic X-linked ectodermal dysplasia (disorder); Christ-Siemens-Touraine Syndrome; Hypohidrotic X-linked ectodermal dysplasia [-]	An ectodermal dysplasia that is characterized by m..[+] An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). [-]
rocuronium allergy	Esmeron allergy; Zemuron allergy	A drug allergy that has_allergic_trigger rocuroniu..[+] A drug allergy that has_allergic_trigger rocuronium. [-]
human monocytic ehrlichiosis	Ehrlichiosis chafeensis	An ehrlichiosis that results in infection located ..[+] An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. [-]
Rocky Mountain spotted fever	Exanthematic typhus of Sao Paulo; Brazillian spott.. [+] Exanthematic typhus of Sao Paulo; Brazillian spotted; Choix; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; So Paulo fever; Tick typhus; Tobia fever; Brazilian spotted [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
Lambert-Eaton myasthenic syndrome	Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE.. [+] Eaton-Lambert syndrome; Lambert-Eaton syndrome; LEMS [-]	A neuromuscular junction disease that is character..[+] A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. [-]	1 articles
paranasal sinus cancer	Epidermoid carcinoma of the paranasal sinus; adeno.. [+] Epidermoid carcinoma of the paranasal sinus; adenoid cystic carcinoma of Accessory sinus; Mucoepidermoid carcinoma of Accessory sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus; paranasal sinus mucoepidermoid carcinoma; adenoid cystic carcinoma of paranasal sinus; paranasal sinus adenoid cystic carcinoma [-]	A respiratory system cancer that is located_in the..[+] A respiratory system cancer that is located_in the paranasal sinuses. [-]
biliary tract benign neoplasm	extrahepatic bile duct neoplasm; neoplasm of extra.. [+] extrahepatic bile duct neoplasm; neoplasm of extrahepatic bile ducts (disorder); neoplasm of extrahepatic bile ducts; tumor of the extrahepatic bile duct [-]	A hepatobiliary benign neoplasm located_in the bil..[+] A hepatobiliary benign neoplasm located_in the biliary tract. [-]
atrioventricular septal defect	ECD; endocardial cushion defect; atrioventricular .. [+] endocardial cushion defect; ECD; atrioventricular canal defect; AVCD; AVSD [-]	A congenital heart septal defect characterized by ..[+] A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. [-]	2 articles
social emotional agnosia	expressive agnosia	An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. [-]
parietal foramina	enlarged parietal foramina; Caitlin marks; heredit.. [+] enlarged parietal foramina; Caitlin marks; hereditary cranium bifidum [-]	An inherited neural tube defect that is characteri..[+] An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. [-]
Meier-Gorlin syndrome	ear-patella-short stature syndrome	A syndrome that is characterized by bilateral unde..[+] A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. [-]
adenoid hypertrophy	enlarged adenoids; adenoidal hypertrophy	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. [-]
Rapp-Hodgkin syndrome	ectodermal dysplasia, Rapp-Hodgkin type; ectoderma.. [+] ectodermal dysplasia, Rapp-Hodgkin type; ectodermal dysplasia syndrome, Rapp-Hodgkin type; anhidrotic ectodermal dysplasia with cleft lip/palate; RHS [-]	An ectodermal dysplasia characterized by abnormal ..[+] An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
multiple acyl-CoA dehydrogenase deficiency	electron transfer flavoprotein ubiquinone oxidored.. [+] electron transfer flavoprotein ubiquinone oxidoreductase deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; MAD deficiency; MADD; glutaric aciduria type 2 [-]	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
Parkinson's disease 6	early-onset Parkinson disease 6; autosomal recessi.. [+] early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson's disease 6; PARK6 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
orofaciodigital syndrome VIII	Edwards syndrome; OFD8	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. [-]
corneal endothelial dystrophy	endothelial dystrophy	n_a	3 articles
familial erythrocytosis 2	ECYT2; Chuvash erythromatosis; Chuvash type polycy.. [+] ECYT2; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; autosomal recessive benign erythrocytosis; Chuvash polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
myoclonic-atonic epilepsy	EEOC; childhood onset epileptic encephalopathy	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. [-]	4 articles
MEDNIK syndrome	erythrokeratodermia variabilis, Kamouraska type; e.. [+] erythrokeratodermia variabilis, Kamouraska type; erythrokeratodermia variabilis 3; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia [-]	A syndrome characterized by mental retardation, en..[+] A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. [-]
familial erythrocytosis 1	ECYT1; autosomal dominant benign erythrocytosis; p.. [+] ECYT1; autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
autosomal dominant nocturnal frontal lobe epilepsy	ENFL	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]	7 articles
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1	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	ENFL2; nocturnal frontal lobe epilepsy 2	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	ENFL3; nocturnal frontal lobe epilepsy 3	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	ENFL4; nocturnal frontal lobe epilepsy 4	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	ENFL5; nocturnal frontal lobe epilepsy 5	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
junctional epidermolysis bullosa with pyloric atresia	epidermolysis bullosa junctionalis with pyloric at.. [+] epidermolysis bullosa junctionalis with pyloric atresia; Carmi syndrome; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
junctional epidermolysis bullosa Herlitz type	epidermolysis bullosa letalis; Herlitz type epider.. [+] epidermolysis bullosa letalis; Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa; JEB-H; junctional epidermolysis bullosa generalisata gravis; junctional epidermolysis bullosa, Herlitz-Pearson type; JEB-Herlitz type [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. [-]
basal laminar drusen	early adult-onset grouped drusen; cuticular drusen.. [+] early adult-onset grouped drusen; cuticular drusen; drusen of bruch membrane [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
familial temporal lobe epilepsy 1	ETL1; partial epilepsy with auditory features	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. [-]
familial temporal lobe epilepsy 6	ETL6	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. [-]
familial temporal lobe epilepsy 7	ETL7	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. [-]
familial temporal lobe epilepsy 5	ETL5	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. [-]
familial temporal lobe epilepsy 4	EPOLM; ETL4; occipitotemporal lobe epilepsy and mi.. [+] ETL4; EPOLM; occipitotemporal lobe epilepsy and migraine with aura [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
familial temporal lobe epilepsy 8	ETL8	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. [-]
familial temporal lobe epilepsy 2	ETL2	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. [-]
congenital malabsorptive diarrhea 4	enteric anendocrinosis; congenital malabsorptive d.. [+] enteric anendocrinosis; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea 4 [-]	A congenital diarrhea characterized by chronic unr..[+] A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. [-]
Norrie disease	Episkopi blindness; Norrie-Warburg disease; atroph.. [+] Episkopi blindness; Norrie-Warburg disease; atrophia bulborum hereditaria [-]	A syndrome characterized by degenerative and proli..[+] A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. [-]	1 articles
developmental and epileptic encephalopathy 9	EIEE9; early infantile epileptic encephalopathy 9; .. [+] early infantile epileptic encephalopathy 9; EIEE9; EFMR; early infantile female-limited epilecptic encephalopathy; female restricted epilepsy with mental retardation; DEE9; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
prune belly syndrome	Eagle-Barret syndrome; abdominal muscle deficiency.. [+] Eagle-Barret syndrome; abdominal muscle deficiency syndrome; Obrisnksy syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Parkinson's disease 20	early-onset Parkinson's disease 20; early-onset Pa.. [+] early-onset Parkinson's disease 20; early-onset Parkinson disease 20 [-]	An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
Revesz syndrome	exudative retinopathy with bone marrow failure; DK.. [+] exudative retinopathy with bone marrow failure; DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5 [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
familial hyperinsulinemic hypoglycemia 7	exercise-induced hyperinsulinemic hypoglycemia; ex.. [+] exercise-induced hyperinsulinemic hypoglycemia; exercise-induced hyperinsulinism; EIHI; hyperinsulinism due to monocarboxylate transporter 1 deficiency; HHF7; hyperinsulinism due to SLC16A1 deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]

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