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Disease	Synonyms	Description
neurodegeneration with brain iron accumulation 2a	NBIA2a; Neurodegeneration, Pla2g6-Associated; INAD.. [+] Neurodegeneration, Pla2g6-Associated; NBIA2a; INAD1; Infantile Neuroaxonal Dystrophy 1; Seitelberger Disease [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. [-]
neurodegeneration with brain iron accumulation 2b	Neurodegeneration With Brain Iron Accumulation, Pl.. [+] Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related; Neuroaxonal Dystrophy, Atypical; NBIA2b [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. [-]
neurodegeneration with brain iron accumulation 3	NBIA3; Neuroferritinopathy; Neuroferritinopathy; A.. [+] Neuroferritinopathy; Neuroferritinopathy; NBIA3; Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
neurodegeneration with brain iron accumulation 4	Neurodegeneration with brain iron accumulation typ.. [+] Neurodegeneration with brain iron accumulation type 4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; NBIA4; NBIA due to C19orf12 mutation; Mitochondrial Protein-Associated Neurodegeneration; MPAN [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. [-]
neurodegeneration with brain iron accumulation 5	NBIA5; Beta-Propeller Protein-Associated Neurodege.. [+] NBIA5; Beta-Propeller Protein-Associated Neurodegeneration; BPAN; SENDA; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. [-]
neurodegeneration with brain iron accumulation 6	Neurodegeneration with brain iron accumulation due.. [+] Neurodegeneration with brain iron accumulation due to COASY mutation; NBIA6; CoPAN [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. [-]
nemaline myopathy 1	nemaline myopathy 1, autosomal dominant or recessi.. [+] nemaline myopathy 1, autosomal dominant or recessive; NEM1 [-]	A nemaline myopathy characterized by onset typical..[+] A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. [-]
nemaline myopathy 3	nemaline myopathy 3, autosomal dominant or recessi.. [+] nemaline myopathy 3, autosomal dominant or recessive; NEM3; congenital myopathy 2A [-]	A nemaline myopathy that has_material_basis_in hom..[+] A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. [-]
nemaline myopathy 2	nemaline myopathy 2, autosomal recessive; NEM2	A nemaline myopathy that has_material_basis_in hom..[+] A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. [-]
nemaline myopathy 9	NEM9	A nemaline myopathy characterized by onset in earl..[+] A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. [-]
nemaline myopathy 8	nemaline myopathy 8, autosomal recessive; NEM8	A nemaline myopathy characterized by fetal akinesi..[+] A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. [-]
nemaline myopathy 10	NEM10	A nemaline myopathy characterized by early-onset g..[+] A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. [-]
nemaline myopathy 4	NEM4; nemaline myopathy 4, autosomal dominant; CAP.. [+] nemaline myopathy 4, autosomal dominant; NEM4; CAP myopathy 2 [-]	A nemaline myopathy that has_material_basis_in het..[+] A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. [-]
nemaline myopathy 11	nemaline myopathy 11, autosomal recessive; NEM11	A nemaline myopathy characterized by onset of slow..[+] A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. [-]
nemaline myopathy 7	nemaline myopathy 7, autosomal recessive; NEM7	A nemaline myopathy characterized by very early on..[+] A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. [-]
nemaline myopathy 6	nemaline myopathy 6, autosomal dominant	A nemaline myopathy characterized by autosomal dom..[+] A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. [-]
nemaline myopathy 5A	NEM5; nemaline myopathy 5, Amish type; Amish nemal.. [+] nemaline myopathy 5, Amish type; NEM5; Amish nemaline myopathy; ANM [-]	A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. [-]
Newfoundland cone-rod dystrophy	NFRCD	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. [-]
nephronophthisis 1	NPHP1; NPH1; juvenile nephronophthisis 1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. [-]
nephronophthisis 2	NPHP2; NPH2; infantile nephronophthisis 2	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. [-]
nephronophthisis 3	NPHP3; NPH3	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. [-]
nephronophthisis 4	NPHP4; juvenile nephronophthisis 4	A nephronophthisis that has_material_basis_in muta..[+] A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. [-]
nephronophthisis 7	NPHP7	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. [-]
nephronophthisis-like nephropathy 1	NPHPL1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. [-]
nephronophthisis 11	NPHP11	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. [-]
nephronophthisis 12	NPHP12	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
nephronophthisis 9	NPHP9	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. [-]
nephronophthisis 13	NPHP13	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. [-]
nephronophthisis 14	NPHP14	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1 [-]
nephronophthisis 15	NPHP15	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. [-]
nephronophthisis 16	NPHP16	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. [-]
nephronophthisis 18	NPHP18	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. [-]
nephronophthisis 19	NPHP19	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. [-]
nephronophthisis 20	NPHP20	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. [-]
neurofibromatosis 1	neurofibromatosis type I; NF1; Peripheral Neurofib.. [+] NF1; neurofibromatosis type I; Peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis; von Recklinghausen Disease [-]	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. [-]
Naegeli-Franceschetti-Jadassohn syndrome	NFJ syndrome; Naegeli syndrome	A ectodermal dysplasia characterized by reticulate..[+] A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Kaeser syndrome; scapuloperoneal syndrome type Kae.. [+] Kaeser syndrome; scapuloperoneal syndrome type Kaeser; scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
non-syndromic X-linked intellectual disability 104	MRX104; X-linked mental retardation 104	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability ARX-related	ARX-related intellectual disability; MRXARX; X-lin.. [+] ARX-related intellectual disability; MRXARX; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32; X-linked mental retardation 33; X-linked mental retardation 38; X-linked mental retardation 43; X-linked mental retardation 52; X-linked mental retardation 54; X-linked mental retardation 76; X-linked mental retardation 87; X-linked mental retardation with or without seizures ARX-related [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. [-]
non-syndromic X-linked intellectual disability 20	MRX20; X-linked mental retardation 20	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. [-]
non-syndromic X-linked intellectual disability 45	MRX45; X-linked mental retardation 45	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 84	MRX84; X-linked mental retardation 84	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. [-]
non-syndromic X-linked intellectual disability 81	MRX81; X-linked mental retardation 81	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. [-]
non-syndromic X-linked intellectual disability 9	MRX44; MRX9; X-linked mental retardation 44; X-lin.. [+] MRX44; MRX9; X-linked mental retardation 44; X-linked mental retardation 9 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 100	MRX100; X-linked mental retardation 100	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. [-]
non-syndromic X-linked intellectual disability 98	MRX98; X-linked mental retardation 98	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 30	MRX30; MRX47; X-linked mental retardation 30; X-li.. [+] MRX30; MRX47; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 88	MRX88; X-linked mental retardation 88	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 41	MRX41; MRX48; X-linked mental retardation 41; X-li.. [+] MRX41; MRX48; X-linked mental retardation 41; X-linked mental retardation 48 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. [-]
nuclear type mitochondrial complex I deficiency	MC1DN	A mitochondrial complex I deficiency that has_mate..[+] A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. [-]

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