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Disease	Synonyms	Description
pompholyx	Vesicular eczema of hands and/or feet; Cheiropomph.. [+] Vesicular eczema of hands and/or feet; Cheiropompholyx; dyshidrosis; DYSHYDROTIC ECZEMA [-]	A sweat gland disease that is characterized by rec..[+] A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. [-]
Waardenburg syndrome	van der Hoeve Halbertsona Waardenburg syndrome; Wa.. [+] van der Hoeve Halbertsona Waardenburg syndrome; Waardenburg Shah syndrome; Waardenburg syndrome; Waardenburg, types I and/or II; Waardenburg's syndrome [-]	A syndrome characterized by varying degrees of dea..[+] A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. [-]
toxocariasis	visceral larva migrans; Infection by Toxascaris (d.. [+] visceral larva migrans; Infection by Toxascaris (disorder); Toxocara infection [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. [-]
rickets	vitamin D-dependent rickets; vitamin D hydroxylati.. [+] vitamin D-dependent rickets; vitamin D hydroxylation-deficient rickets; active rickets [-]	A bone remodeling disease that has_material_basis_..[+] A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. [-]
hypertension	vascular hypertensive disorder; High blood pressur.. [+] vascular hypertensive disorder; High blood pressure (& [essential hypertension]); HTN; hyperpiesia; hypertensive disease [-]	An artery disease characterized by chronic elevate..[+] An artery disease characterized by chronic elevated blood pressure in the arteries. [-]
abducens nerve palsy	VIth nerve disorder; VIth nerve Paralysis; Abducen.. [+] VIth nerve Paralysis; VIth nerve disorder; Abducens nerve disorder; Abducens nerve weakness; disorder of abducent nerve; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); Sixth or abducens nerve palsy; abducens nerve disease; abducens palsy; Sixth cranial nerve disorder; Sixth nerve palsy [-]	A cranial nerve palsy characterized by lateral rec..[+] A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. [-]
hand, foot and mouth disease	Vesicular stomatitis and exanthem	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. [-]
herpangina	Vesicular pharyngitis	A viral infectious disease that results in infecti..[+] A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. [-]
conjunctival vascular disease	vascular abnormalities of conjunctiva; Conjunctiva.. [+] vascular abnormalities of conjunctiva; Conjunctival vascular abnormality [-]	n_a
rickettsialpox	Vesicular rickettsiosis; Rickettsia akari spotted .. [+] Vesicular rickettsiosis; Rickettsia akari spotted fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. [-]
anogenital venereal wart	venereal wart; Anogenital Human papilloma Virus In.. [+] venereal wart; Anogenital Human papilloma Virus Infectious Disease; Anogenital warts; Condyloma acuminatum; genital wart virus infectious disease; Genital warts [-]	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. [-]
acute hemorrhagic conjunctivitis	viral conjunctivitis; Apollo disease; Epidemic hem.. [+] viral conjunctivitis; Apollo disease; Epidemic hemorrhagic conjunctivitis [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. [-]
onchocerciasis	volvulosis; Infection by Onchocerca volvulus (diso.. [+] volvulosis; Infection by Onchocerca volvulus (disorder); Onchocerca volvulus infection [-]	A filariasis that involves parasitic infection cau..[+] A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. [-]
spontaneous ocular nystagmus	visual deprivation nystagmus (disorder); visual de.. [+] visual deprivation nystagmus (disorder); visual deprivation nystagmus; Ocular nystagmus; Searching eye movements [-]	n_a
male genital organ vascular disease	vascular disorder of male genital organs	n_a
osteogenesis imperfecta	Vrolik's disease; brittle bone disease; Fragilitas.. [+] Vrolik's disease; brittle bone disease; Fragilitas ossium; Lobstein's syndrome; Osteopsathyrosis [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. [-]
nephrogenic diabetes insipidus	vasopressin-resistant diabetes insipidus	An impaired renal function disease characterized b..[+] An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). [-]
neurohypophyseal diabetes insipidus	Vasopressin deficiency; vasopressin defective diab.. [+] Vasopressin deficiency; vasopressin defective diabetes insipidus; central diabetes insipidus; Pituitary diabetes insipidus [-]	n_a
hepatitis A	Viral hepatitis, type A; Viral hepatitis, type A (.. [+] Viral hepatitis, type A; Viral hepatitis, type A (disorder); Viral hepatitis A [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. [-]
acoustic neuroma	Vestibular schwannoma; Vestibular Neurilemmoma	n_a
Plasmodium vivax malaria	Vivax Malaria; Malaria by Plasmodium vivax	A malaria that is caused by the protozoan parasite..[+] A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. [-]
active vestibular Meniere's disease	Vestibular active Mnire's disease (disorder); acti.. [+] Vestibular active Mnire's disease (disorder); active Meniere's disease, vestibular; active vestibular Meniere disease [-]	n_a
plantar wart	Verruca plantaris; Verruca plantaris (disorder); V.. [+] Verruca plantaris (disorder); Verruca plantaris; Verruca Plantaris; PLANTAR WART [-]	A viral infectious disease that results_in benign ..[+] A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. [-]
necrotizing ulcerative gingivitis	Vincent's disease; Vincent's infection, any site; .. [+] Vincent's infection, any site; Vincent's disease; Vincent's angina NOS; Vincent's angina - pharyngitis (disorder); Vincent's angina; Vincent's Angina; Vincent angina; (Vincent's angina) or (trench mouth); acute necrotising ulcerative gingivitis; acute necrotising ulcerative gingivitis [Ambiguous]; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotizing ulcerative gingivitis; acute necrotizing ulcerative gingivostomatitis (disorder); acute ulceromembranous gingivitis; Angina - Vincents; ANUG; early acute necrotising gingivitis; Trench mouth [-]	n_a
abducens nerve neoplasm	VIth Cranial nerve tumors; neoplasm of abducens ne.. [+] VIth Cranial nerve tumors; neoplasm of abducens nerve (disorder) [-]	n_a
X-linked dominant hypophosphatemic rickets	Vitamin D-Resistant Rickets, X-Linked; Hypophospha.. [+] Vitamin D-Resistant Rickets, X-Linked; Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Rickets, Vitamin D-Resistant; X-linked hypophosphatemia [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]
Seckel syndrome	Virchow-Seckel dwarfism; bird-headed dwarfism; Har.. [+] Virchow-Seckel dwarfism; bird-headed dwarfism; Harper's syndrome; microcephalic primordial dwarfism [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]
Bothnia retinal dystrophy	Vasterbotten dystrophy	n_a
multiple cutaneous and mucosal venous malformations	VMCM; cutaneomucosal venous malformation; mucocuta.. [+] VMCM; cutaneomucosal venous malformation; mucocutaneous venous malformations [-]	A vein disease that is characterized by multiple b..[+] A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. [-]
Joubert syndrome with orofaciodigital defect	Varadi syndrome; Varadi-Papp syndrome; OFD6; orofa.. [+] Varadi-Papp syndrome; Varadi syndrome; OFD6; orofaciodigital syndrome VI [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
chromosome 17q11.2 deletion syndrome, 1.4Mb	Van Asperen syndrome; 17q11 microdeletion syndrome.. [+] Van Asperen syndrome; 17q11 microdeletion syndrome; neurofibromatosis type 1 microdeletion syndrome; NF1 microdeletion syndrome [-]	n_a
megacystis-microcolon-intestinal hypoperistalsis syndrome	visceral myopathy; Berdon syndrome	A syndrome that is characterized by marked dilatat..[+] A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. [-]
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	vitamin B12-unresponsive methylmalonic aciduria; m.. [+] vitamin B12-unresponsive methylmalonic aciduria; methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type [-]	A methylmalonic acidemia characterized by accumula..[+] A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. [-]
dextro-looped transposition of the great arteries	ventriculoarterial discordance with atrioventricul.. [+] ventriculoarterial discordance with atrioventricular concordance; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; D-TGA; isolated ventriculoarterial discordance [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]
leukoencephalopathy with vanishing white matter	vanishing white matter leukodystrophy; CACH; child.. [+] vanishing white matter leukodystrophy; CACH; childhood ataxia with central nervous system hypomyelination; CLE; Cree leukoencephalopathy; CACH/VWM; ovarioleukodystrophy [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]
SOST-related sclerosing bone dysplasia	van Buchem disease	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [-]
hepatic veno-occlusive disease	veno-occlusive disease	A hepatic vascular disease that is characterized b..[+] A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. [-]
spinal muscular atrophy type 0	very severe spinal muscular atrophy	A childhood spinal muscular atrophy that is eviden..[+] A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. [-]
spondylocarpotarsal synostosis syndrome	vertebral fusion with carpal coalition; congenital.. [+] vertebral fusion with carpal coalition; congenital scoliosis with unilateral unsegmented bar; congenital synspondylism; SCT; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis [-]	A bone development disease that is characterized b..[+] A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. [-]
asphyxiating thoracic dystrophy 3	Verma-Naumoff syndrome; ATD3; polydactyly with neo.. [+] Verma-Naumoff syndrome; ATD3; polydactyly with neonatal chondrodystrophy, type I; polydactyly with neonatal chondrodystrophy, type III; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type I; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRPS3; SRTD3 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
osteogenesis imperfecta type 2	Vrolik type of osteogenesis imperfecta; OI2; osteo.. [+] Vrolik type of osteogenesis imperfecta; OI2; osteogenesis imperfecta type II; perinatal lethal osteogenesis imperfecta congenita [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
long QT syndrome 1	ventricular fibrillation with prolonged QT interva.. [+] ventricular fibrillation with prolonged QT interval; LQT1 [-]	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. [-]
platelet-type bleeding disorder 3	von Willebrand disease platelet-type; BDPLT3; plat.. [+] von Willebrand disease platelet-type; BDPLT3; platelet type-von Willebrand disease; pseudo-von Willebrand disease; PT-VWD [-]	A blood platelet disease characterized by enhanced..[+] A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. [-]
birdshot chorioretinopathy	vitiliginous choroiditis; birdshot chorioretinitis.. [+] vitiliginous choroiditis; birdshot chorioretinitis; birdshot retinochoroiditis; birdshot retinochoroidopathy; BSCR [-]	A posterior uveitis characterized by multiple smal..[+] A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. [-]
Prinzmetal angina	variant angina; variant angina pectoris; angina in.. [+] variant angina pectoris; variant angina; angina inversa; Prinzmetal's angina; Prinzmetal's variant angina [-]	A coronary artery vasospasm characterized by spasm..[+] A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. [-]
neurofibromatosis 1	von Recklinghausen Disease; neurofibromatosis type.. [+] von Recklinghausen Disease; neurofibromatosis type I; NF1; Peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]

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