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Disease	Synonyms	Description
glanders	Farcy pipes; Infection due to Pseudomonas mallei	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. [-]
twin-to-twin transfusion syndrome	Fetal hemorrhage into co-twin (disorder); Fetal bl.. [+] Fetal hemorrhage into co-twin (disorder); Fetal blood loss from fetal hemorrhage into co-twin; Twin to twin transfusion; Twin-to-twin blood transfer (disorder) [-]	n_a
patent foramen ovale	foramen ovale patent; Atrial septal defect within .. [+] foramen ovale patent; Atrial septal defect within oval fossa; Defect, Patent or persistent, ostium secundum; Ostium secundum type atrial septal defect; Persistent ostium secundum [-]	n_a
Plasmodium falciparum malaria	Falciparum malaria [malignant tertian]; Falciparum.. [+] Falciparum malaria [malignant tertian]; Falciparum malaria (disorder); Falciparum Malaria; Malaria fever, subtertian; malignant tertian fever (finding); Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder) [-]	A malaria described as a severe form of the diseas..[+] A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. [-]
dihydropyrimidine dehydrogenase deficiency	familial pyrimidinaemia; Dihydropyrimidine dehydro.. [+] familial pyrimidinaemia; Dihydropyrimidine dehydrogenase deficiency (disorder); Dihydrouracil Dehydrogenase deficiency; thymine-uracilurea [-]	A purine-pyrimidine metabolic disorder that is an ..[+] A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. [-]
sclerosing cholangitis	fibrosing cholangitis	n_a
hyperkalemic periodic paralysis	familial hyperkalemic periodic paralysis (disorder.. [+] familial hyperkalemic periodic paralysis (disorder) [Ambiguous]; familial hyperkalemic periodic paralysis (disorder); hyperkalemic periodic paralysis (disorder) [-]	n_a
hypokalemic periodic paralysis	familial periodic paralysis (& [hypokalaemic]); fa.. [+] familial periodic paralysis (& [hypokalaemic]); familial hypokalemic periodic paralysis (disorder); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder); periodic hypokalemic paralysis; Periodic paralysis I [-]	n_a
benign familial neonatal epilepsy	familial neonatal seizures; familial neonatal seiz.. [+] familial neonatal seizures; familial neonatal seizures (disorder) [-]	n_a
Blount's disease	familial infantile type osteochondrosis deformans .. [+] familial infantile type osteochondrosis deformans tibiae; Blount disease [-]	An osteochondrodysplasia that results_in inward tu..[+] An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. [-]
amodiaquine allergy	Flavoquine allergy; Camoquin allergy	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
Rocky Mountain spotted fever	Fiebre maculosa; Fiebre manchada; So Paulo fever; .. [+] Fiebre manchada; Fiebre maculosa; So Paulo fever; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Sao Paulo typhus; Tick typhus; Tobia fever [-]	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. [-]
idiopathic pulmonary fibrosis	FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibro.. [+] FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibrosing alveolitis; IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL [-]	An idiopathic interstitial pneumonia which is a di..[+] An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. [-]
desquamative interstitial pneumonia	familial desquamative interstitial pneumonitis; RB.. [+] familial desquamative interstitial pneumonitis; RBILD; respiratory bronchiolitis-associated interstitial lung disease [-]	An idiopathic interstitial pneumonia that is chara..[+] An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. [-]
tick-borne encephalitis	Far Eastern TBE; Central European encephalitis; Ru.. [+] Far Eastern TBE; Central European encephalitis; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; Taiga encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. [-]
Costello syndrome	FCS SYNDROME; Faciocutaneoskeletal Syndrome	A syndrome characterized by craniofacial dysmorpho..[+] A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]
endemic typhus	fleaborne typhus; cat flea rickettsiosis; murine t.. [+] fleaborne typhus; cat flea rickettsiosis; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya [-]	A typhus that has_material_basis_in Rickettsia typ..[+] A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. [-]
exudative vitreoretinopathy	FEVR; familial exudative vitreoretinopathy	A retinal vascular disease characterized by the pr..[+] A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. [-]
hereditary sensory neuropathy	familial dysautonomia, type II; congenital insensi.. [+] familial dysautonomia, type II; congenital insensitivity to pain; hereditary sensory and autonomic neuropathy [-]	A neuropathy characterized by congenital insensiti..[+] A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [-]
tooth agenesis	familial tooth agenesis; hypodontia; oligodontia; .. [+] familial tooth agenesis; hypodontia; oligodontia; selective tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop on or more missing teeth. [-]
advanced sleep phase syndrome	familial advanced sleep-phase syndrome	A sleep disorder that involves an altered circadia..[+] A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [-]
Aland Island eye disease	FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eri.. [+] FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eriksson syndrome [-]	n_a
transthyretin amyloidosis	Familial transthyretin amyloidosis; familial amylo.. [+] Familial transthyretin amyloidosis; familial amyloid polyneuropathy; Amyloidosis, hereditary, transthyretin-related; Corino de Andrade's disease; transthyretin-related hereditary amyloidosis; TTR amyloidosis [-]	An amyloidosis that is characterized by a loss of ..[+] An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [-]
primary cutaneous amyloidosis	familial primary localized cutaneous amyloidosis; .. [+] familial primary localized cutaneous amyloidosis; PCA [-]	An amyloidosis characterized by pruritus, skin scr..[+] An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. [-]
distal arthrogryposis	Freeman-Sheldon syndrome variant; Freeman-Sheldon .. [+] Freeman-Sheldon syndrome variant; Freeman-Sheldon syndrome; Arthrogryposis Multiplex Congenita; Sheldon-Hall syndrome [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]
Arts syndrome	fatal X-linked ataxia with deafness and loss of vi.. [+] fatal X-linked ataxia with deafness and loss of vision; ARTS; Lethal ataxia with deafness and optic atrophy; MRXS18; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
atransferrinemia	familial hypotransferrinemia	A metal metabolism disorder that is characterized ..[+] A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. [-]
generalized dystonia	familial dystonia; fragments of torsion dystonia; .. [+] fragments of torsion dystonia; familial dystonia; Dystonia 12; dystonia deformans progressiva; dystonia musculorum deformans; idiopathic familial dystonia; idiopathic non-familial dystonia; Idiopathic torsion dystonia; symptomatic torsion dystonia [-]	A dystonia that affects most or all of the body.
popliteal pterygium syndrome	facio-genito-popliteal syndrome; popliteal web syn.. [+] facio-genito-popliteal syndrome; popliteal web syndrome [-]	A syndrome characterized by abnormal development o..[+] A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. [-]
gamma heavy chain disease	Franklin's disease	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of gamma antibody (IgG). [-]
intracranial berry aneurysm	familial intracranial saccular aneurysm; familial .. [+] familial intracranial saccular aneurysm; familial berry aneurysm; familial aneurysmal subarachnoid hemorrhage; saccular cerebral aneurysm [-]	An intracranial aneurysm with a characteristic rou..[+] An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [-]
basal ganglia calcification	Fahr disease	A basal ganglia disease characterized by the prese..[+] A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [-]
stuttering	familial persistent stuttering; stammering	An articulation disorder characterized by involunt..[+] An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [-]
Robinow syndrome	fetal face syndrome; acral dysostosis with facial .. [+] fetal face syndrome; acral dysostosis with facial and genital abnormalities; Robinow dwarfism [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]
cornea plana	flat cornea	n_a
brown shrimp allergy	Farfantepenaeus aztecus allergy	A crustacean allergy triggered by Farfantepenaeus ..[+] A crustacean allergy triggered by Farfantepenaeus aztecus. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
cerebral cavernous malformation	familial cavernous angioma; cavernous angiomatous .. [+] familial cavernous angioma; cavernous angiomatous malformations; CCM; cerebral capillary malformations [-]	A vascular anomaly of the central nervous system c..[+] A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support. [-]
hyperekplexia	familial startle disease; congenital stiff man syn.. [+] familial startle disease; congenital stiff man syndrome; hereditary hyperekplexia; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]
Muenke Syndrome	FGFR3-related craniosynostosis	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]
syndromic X-linked intellectual disability 5	Fried syndrome; Mental retardation, X-linked syndr.. [+] Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked mental retardation 59; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
hereditary neuropathy with liability to pressure palsies	familial recurrent polyneuropathy; current pressur.. [+] familial recurrent polyneuropathy; current pressure-sensitive neuropathy; heterozygous microdeletion 17p11.2p12; HNPP; potato-grubbing palsy; tomaculous neuropathy; tulip-bulb digger's palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
early infantile epileptic encephalopathy 9	female restricted epilepsy with mental retardation.. [+] female restricted epilepsy with mental retardation; early infantile female-limited epilecptic encephalopathy; EFMR; EIEE9; Juberg Hellman syndrome [-]	An infantile epileptic encephalopathy that has_mat..[+] An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
pemphigus vulgaris	familial pemphigus vulgaris	A pemphigus characterized by autosomal dominant bl..[+] A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. [-]
isolated growth hormone deficiency	familial isolated growth hormone deficiency; conge.. [+] familial isolated growth hormone deficiency; congenital IGHD; congenital isolated GH deficiency; congenital isolated growth hormone deficiency; IGHD; non-acquired isolated growth hormone deficiency [-]	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. [-]
isolated growth hormone deficiency type III	Fleisher syndrome; congenital IGHD type III; conge.. [+] Fleisher syndrome; congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
renal hypomagnesemia 3	FHHNC without severe ocular involvement; familial .. [+] FHHNC without severe ocular involvement; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; HOMG3; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; 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. [-]
renal hypomagnesemia 5 with ocular involvement	FHHNC with severe ocular involvement; familial hyp.. [+] FHHNC with severe ocular involvement; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; bilateral macular coloboma with hypercalciuria; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
ITM2B-related cerebral amyloid angiopathy 1	Familial British Dementia; FBD; Cerebral Amyloid A.. [+] FBD; Familial British Dementia; Cerebral Amyloid Angiopathy, British Type; Presenile Dementia with Spastic Ataxia [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
ITM2B-related cerebral amyloid angiopathy 2	Familial Danish Dementia; FDD; Cerebellar Ataxia, .. [+] FDD; Familial Danish Dementia; Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. [-]

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