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Disease	Synonyms	Description	Articles
autosomal dominant Robinow syndrome 3	DRS3	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. [-]
multiple types of congenital heart defects 6	dextro-looped transposition of the great arteries .. [+] dextro-looped transposition of the great arteries 3; DTGA3 [-]	A congenital heart disease that is characterized b..[+] A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. [-]	1 articles
microvillus inclusion disease	diarrhea 2 with microvillus atrophy; Davidson dise.. [+] diarrhea 2 with microvillus atrophy; Davidson disease; congenital microvillus atrophy; intractable diarrhea of infancy; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
congenital diarrhea 5 with tufting enteropathy	DIAR5; congenital familial intractable diarrhea wi.. [+] DIAR5; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; tufting enteropathy; congenital diarrhoea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy [-]	A congenital diarrhea characterized by intractable..[+] A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. [-]
congenital secretory sodium diarrhea 8	DIAR8	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. [-]
hypomyelinating leukodystrophy 7	dentoleukoencephalopathy; ataxia-delayed dentition.. [+] dentoleukoencephalopathy; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
septooptic dysplasia	De Morsier syndrome; SOD; septo-optic dysplasia	A syndrome characterized by the classical triad of..[+] A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. [-]
isolated growth hormone deficiency type IB	dwarfism of Sindh; congenital IGHD type IB; congen.. [+] dwarfism of Sindh; congenital IGHD type IB; congenital isolated GH deficiency type IB; IGHD IB; congenital isolated growth hormone deficiency type IB [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
autosomal dominant dyskeratosis congenita 1	Dyskeratosis Congenita, Scoggins Type; DKCA1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. [-]
autosomal recessive dyskeratosis congenita 1	DKCB1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. [-]
autosomal dominant dyskeratosis congenita 2	DKCA2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 2	DKCB2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. [-]
autosomal dominant dyskeratosis congenita 3	DKCA3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal recessive dyskeratosis congenita 3	DKCB3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. [-]
autosomal dominant dyskeratosis congenita 4	DKCA4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal recessive dyskeratosis congenita 4	DKCB4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 5	DKCB5	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal dominant dyskeratosis congenita 6	DKCA6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. [-]
autosomal recessive dyskeratosis congenita 6	DKCB6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. [-]
X-linked dyskeratosis congenita	DKCX; Zinsser-Cole-Engman syndrome	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. [-]
Revesz syndrome	Dyskeratosis Congenita, Autosomal Dominant 5; DKCA.. [+] Dyskeratosis Congenita, Autosomal Dominant 5; DKCA5; exudative retinopathy with bone marrow failure [-]	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. [-]
autosomal dominant intellectual developmental disorder 7	DYRK1A syndrome; autosomal dominant mental retarda.. [+] DYRK1A syndrome; autosomal dominant mental retardation 7; MRD7; autosomal dominant non-syndromic intellectual disability 7 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]	1 articles
autosomal recessive cutis laxa type IIIA	De Barsy syndrome A; ARCL3A	A autosomal recessive cutis laxa type III that has..[+] A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IIIB	De Barsy syndrome B; ARCL3B	An autosomal recessive cutis laxa type III that ha..[+] An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. [-]
autosomal recessive cutis laxa type III	De Barsy syndrome; cutis laxa-corneal clouding-int.. [+] De Barsy syndrome; cutis laxa-corneal clouding-intellectual disability syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
autosomal recessive chronic granulomatous disease 2	deficiency of NCF2; deficiency of p67-PHOX; autoso.. [+] deficiency of p67-PHOX; deficiency of NCF2; autosomal recessive chronic granulomatous disease 2; CDG2; chronic granulomatous disease due to deficiency of NCF-2; autosomal recessive chronic granulomatous disease cytochrome b-positive type II [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. [-]
autosomal recessive chronic granulomatous disease 1	deficiency of soluble oxidase component II; defici.. [+] deficiency of soluble oxidase component II; deficiency of SOC2; deficiency of p47-PHOX; deficiency of neutrophil cytosol factor 1; deficiency of NCF1; autosomal recessive chronic granulomatous disease cytochrome b-positive type I; CDG1; chronic granulomatous disease due to deficiency of NCF-1 [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. [-]
primary coenzyme Q10 deficiency 2	deafness-encephaloneuropathy-obesity-valvulopathy .. [+] deafness-encephaloneuropathy-obesity-valvulopathy syndrome; COQ10D2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; coenzyme Q10 deficiency, primary, 2 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [-]
congenital disorder of glycosylation type IIm	developmental and epileptic encephalopathy 22; con.. [+] developmental and epileptic encephalopathy 22; congenital disorder of glycosylation type 2m; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
myofibrillar myopathy 1	desminopathy; autosomal recessive limb-girdle musc.. [+] desminopathy; autosomal recessive limb-girdle muscular dystrophy type 2R [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. [-]
mitochondrial DNA depletion syndrome 3	deoxyguanosine kinase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. [-]
Alpers-Huttenlocher syndrome	Diffuse Cerebral Sclerosis of Schilder; Alpers dis.. [+] Diffuse Cerebral Sclerosis of Schilder; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; Alper's syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 2	developmental and epileptic encephalopathy 20; ear.. [+] developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. [-]
herpes simplex virus keratitis	dendritic keratitis	A keratitis that has_material_basis_in herpes simp..[+] A keratitis that has_material_basis_in herpes simplex type infection. [-]
microcephaly, seizures, and developmental delay	developmental and epileptic encephalopathy 10; ear.. [+] developmental and epileptic encephalopathy 10; early infantile epileptic encephalopathy 10 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. [-]	1 articles
pustular psoriasis 14	deficiency of IL-36R antagonist; acrodermatitis co.. [+] deficiency of IL-36R antagonist; acrodermatitis continua of Hallopeau [-]	A psoriasis characterized by sudden, repeated epis..[+] A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. [-]
congenital disorder of glycosylation Im	DOLK-congenital disorder of glycosylation; dolicho.. [+] DOLK-congenital disorder of glycosylation; dolichol kinase deficiency; congenital disorder of glycosylation 1m [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. [-]
Wolfram syndrome, mitochondrial form	DIDMOAD, mitochondrial form; diabetes mellitus AND.. [+] DIDMOAD, mitochondrial form; diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form [-]	A Wolfram syndrome that has_material_basis_in muta..[+] A Wolfram syndrome that has_material_basis_in mutation in mtDNA. [-]
Heimler syndrome 1	Deafness-enamel hypoplasia-nail defects syndrome; .. [+] Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
GNE myopathy	Distal myopathy, Nonaka type; Distal Myopathy with.. [+] Distal myopathy, Nonaka type; Distal Myopathy with Rimmed Vacuoles; Hereditary Inclusion Body Myopathy; inclusion body myopathy 2; Nonaka myopathy [-]	A myopathy that is characterized by progressive sk..[+] A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
acute myeloid leukemia with t(6;9) (p23;q34.1)	DEK-NUP214; DEK-NUP214; Acute Myeloid Leukemia wit.. [+] DEK-NUP214; DEK-NUP214; Acute Myeloid Leukemia with t(6; 9) (p23; q34.1); acute myeloid leukemia with t(6; 9)(p23; q34) [-]	An acute myeloid leukemia associated with t(6; 9)(..[+] An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. [-]
acromesomelic dysplasia-3	Demirhan-type acromesomelic dysplasia	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
glycogen storage disease I	deficiency of glucose-6-phosphatase; glycogen stor.. [+] deficiency of glucose-6-phosphatase; glycogen storage disease type I; glycogenosis type I; von Gierke disease; von Gierke's disease; 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. [-]
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-relate.. [+] DYTOABG; DYSTONIA 29, CHILDHOOD-ONSET; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration [-]	A dystonia that is characterized by characterized ..[+] A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. [-]
familial focal epilepsy with variable foci	DEPDC5-related epilepsy	A focal epilepsy that is characterized by focal se..[+] A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. [-]
microcephaly, short stature, and limb abnormalities	DONSON-related microcephaly-short stature-limb abn.. [+] DONSON-related microcephaly-short stature-limb abnormalities spectrum [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. [-]
split hand-foot malformation 3	distal limb deficiencies with micrognathia; chromo.. [+] distal limb deficiencies with micrognathia; chromosome 10q24 duplication syndrome; SHFM3 [-]	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. [-]
hypogonadotropic hypogonadism 1 with or without anosmia	dysplasia olfactogenitalis of de morsier	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. [-]
ocular albinism with sensorineural deafness	digenic Waardenburg syndrome/ocular albinism; dige.. [+] digenic Waardenburg syndrome/ocular albinism; digenic Waardenburg syndrome/albinism; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; WS2-OA [-]	An ocular albinism that is characterized by deafne..[+] An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. [-]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	diabetes mellitus, congenital insulin-dependent, w.. [+] diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; DMSD; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; autoimmunity-immunodeficiency syndrome, X-linked; X-linked autoimmunity-allergic dysregulation syndrome; Autoimmune enteropathy type 1; IDDM-secretory diarrhea syndrome; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked; IPEX; XLAAD; XPID [-]	A hypersensitivity reaction type II disease charac..[+] A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11. [-]

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