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Disease	Synonyms	Description	Articles
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; DTGA1 [-]	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. [-]	1 articles
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. [-]
megalencephalic leukoencephalopathy with subcortical cysts	vacuolating megalencephalic leukoencephalopathy wi.. [+] vacuolating megalencephalic leukoencephalopathy with subcortical cysts; megalencephalic leukodystrophy\\megalencephaly-cystic leukodystorphy syndrome; megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome [-]	A leukodystorphy characterized by infantile-onset ..[+] A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. [-]
megalencephalic leukoencephalopathy with subcortical cysts 1	Van Der Knaap disease; leukoencephalopathy with sw.. [+] Van Der Knaap disease; leukoencephalopathy with swelling and cysts [-]	A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. [-]
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. [-]
glycogen storage disease I	von Gierke disease; von Gierke's disease; deficien.. [+] von Gierke's disease; von Gierke disease; deficiency of glucose-6-phosphatase; glycogen storage disease type I; glycogenosis type I; Glycogen storage disease 1 [-]	A glycogen storage disease that is characterized b..[+] A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. [-]
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; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRTD3; polydactyly with neonatal chondrodystrophy, type III; short rib-polydactyly syndrome, type I; SRPS3 [-]	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. [-]	8 articles
platelet-type bleeding disorder 3	von Willebrand disease platelet-type; BDPLT3; PT-V.. [+] von Willebrand disease platelet-type; BDPLT3; PT-VWD; pseudo-von Willebrand disease; platelet type-von Willebrand disease [-]	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; familial spinal neurof.. [+] von Recklinghausen Disease; familial spinal neurofibromatosis; neurofibromatosis type I; Peripheral Neurofibromatosis; FSNF; NF1; 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. [-]	1 articles
paramyotonia congenita of Von Eulenburg	Von Eulenburg paramyotonia congenita; paralysis pe.. [+] Von Eulenburg paramyotonia congenita; paralysis periodica paramyotonica; paramyotonia congenita; PMC; Eulenburg disease; myotonia congenita intermittens [-]	A neuromuscular disease characterized by onset in ..[+] A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. [-]
autosomal dominant vitreoretinochoroidopathy	vitreoretinochoroidopathy with microcornea, glauco.. [+] vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; VRCP autosomal dominant; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; vitreoretinochoroidopathy dominant; ADVIRC [-]	A hereditary retinal dystrophy characterized by ab..[+] A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. [-]
snowflake vitreoretinal degeneration	vitreoretinal degeneration, snowflake type; SVD	An eye degenerative disease characterized by fibri..[+] An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. [-]
X-linked VACTERL association	VACTERLX; VACTERL association, X-linked with or wi.. [+] VACTERLX; VACTERL association, X-linked with or without hydrocephalus [-]	A VACTERL association that has_material_basis_in m..[+] A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. [-]
syndromic microphthalmia 8	Viljoen-Smart syndrome; MCOPS8; syndromic micropht.. [+] Viljoen-Smart syndrome; MCOPS8; syndromic microphthalmia type 8; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; MMEP syndrome [-]	A syndromic microphthalmia characterized by microc..[+] A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. [-]
severe congenital neutropenia 5	VPS45 deficiency; congenital neutropenia-bone marr.. [+] VPS45 deficiency; congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; congenital neutropenia-myelofibrosis-nephromegaly syndrome; SCN5 [-]	A severe congenital neutropenia characterized by n..[+] A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. [-]
hereditary combined deficiency of vitamin K-dependent clotting factors	VKCFD; hereditary combined deficiency of factors I.. [+] VKCFD; hereditary combined deficiency of factors II, VII, IX and X [-]	A blood coagulation disease characterized by reduc..[+] A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. [-]
combined deficiency of vitamin K-dependent clotting factors 1	VKCFD1	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. [-]
combined deficiency of vitamin K-dependent clotting factors 2	VKCFD2	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. [-]
hepatic venoocclusive disease with immunodeficiency	VODI; hepatic veno-occlusive disease-immunodeficie.. [+] VODI; hepatic veno-occlusive disease-immunodeficiency syndrome [-]	A syndrome characterized by severe hypogammaglobul..[+] A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. [-]
homocystinuria-megaloblastic anemia cblE type	vitamin B12-responsive homocystinuria, cblE type; .. [+] vitamin B12-responsive homocystinuria, cblE type; functional methionine synthase deficiency type cblE; HMAE; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type; methylcobalamin deficiency, cblE type [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. [-]

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