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Disease	Synonyms	Description	Articles
hereditary sensory neuropathy type 4	insensitivity to pain, congenital, with anhidrosis.. [+] insensitivity to pain, congenital, with anhidrosis; hereditary sensory neuropathy type IV [-]	A hereditary sensory neuropathy characterized by i..[+] A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. [-]	1 articles
spermatogenic failure 5	Infertility associated with multi-tailed spermatoz.. [+] Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid; infertility associated with multitailed spermatozoa and excessive DNA; male infertility with large-headed, multiflagellar, polyploid spermatozoa; SPGF5; male infertility due to macrozoospermia; macrocephalic sperm head syndrome [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. [-]
miliaria profunda	ICD10CM:L74.2; SNOMEDCT_US_2020_03_01:47317002	A miliaria that is characterized by ductal occlusi..[+] A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. [-]
classic dopamine transporter deficiency syndrome	infantile parkinsonism-dystonia 1; classic DTDS; P.. [+] infantile parkinsonism-dystonia 1; classic DTDS; PKDYS1 [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
peeling skin syndrome 1	inflammatory peeling skin syndrome; generalized in.. [+] inflammatory peeling skin syndrome; generalized inflammatory peeling skin syndrome; peeling skin syndrome type B; PSS1 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. [-]
peeling skin syndrome 4	ichthyosis exfoliativa; ichthyosis bullosa of Siem.. [+] ichthyosis exfoliativa; ichthyosis bullosa of Siemens-like; AREI; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS4 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	ichthyosis exfoliativa; autosomal recessive exfoli.. [+] ichthyosis exfoliativa; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS5 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
mucolipidosis II alpha/beta	I-cell disease; inclusion-cell disease; mucolipido.. [+] inclusion-cell disease; I-cell disease; mucolipidosis II; mucolipidosis II alpha/beta [-]	A mucolipidosis that is characterized by short sta..[+] A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. [-]
nonsyndromic congenital nail disorder 8	isolated toenail dystrophy	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. [-]
mitochondrial DNA depletion syndrome 7	infantile onset spinocerebellar ataxia; OHAHA SYND.. [+] infantile onset spinocerebellar ataxia; OHAHA SYNDROME [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. [-]
multiple mitochondrial dysfunctions syndrome 3	IBA57 deficiency	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. [-]
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	indeterminate bronchioloalveolar carcinoma; mixed .. [+] indeterminate bronchioloalveolar carcinoma; mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma [-]	A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). [-]
nephrotic syndrome type 7	Immunoglobulin-mediated MPGN; immunoglobulin-media.. [+] Immunoglobulin-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis [-]	A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. [-]
developmental and epileptic encephalopathy 35	ITPA-related encephalopathy; DEE35; early infantil.. [+] ITPA-related encephalopathy; DEE35; early infantile epileptic encephalopathy 35 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. [-]
developmental and epileptic encephalopathy 91	infantile or early childhood epileptic encephalopa.. [+] infantile or early childhood epileptic encephalopathy 1 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. [-]
hyper IgM syndrome	immunodeficiency with hyper-IgM; HIGM; hyperimmuno.. [+] immunodeficiency with hyper-IgM; HIGM; hyperimmunoglobulin M syndrome [-]	A hyperimmunoglobin syndrome that is characterized..[+] A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. [-]
B-lymphoblastic leukemia/lymphoma with iAMP21	Intrachromosomal amplification of chromosome 21 (i.. [+] Intrachromosomal amplification of chromosome 21 (iAMP21); B-ALL with iAMP21 [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. [-]
GNE myopathy	inclusion body myopathy 2; Distal Myopathy with Ri.. [+] inclusion body myopathy 2; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; 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. [-]
congenital myopathy 6	inclusion body myopathy 3; proximal myopathy and o.. [+] inclusion body myopathy 3; proximal myopathy and ophthalmoplegia [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
serum amyloid A amyloidosis	inflammation AA amyloidosis; AA amyloidosis; Apo s.. [+] inflammation AA amyloidosis; AA amyloidosis; Apo serum amyloid A amyloidosis; secondary amyloidosis [-]	An amyloidosis that is characterized by sustained ..[+] An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. [-]
RNASET2-deficient cystic leukoencephalopathy	infantile-onset RNASET2 deficient cystic leukoence.. [+] infantile-onset RNASET2 deficient cystic leukoencephalopathy; cystic leukoencephalopathy without megalencephaly [-]	A leukodystrophy that is characterized by non-prog..[+] A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. [-]
glycosylphosphatidylinositol biosynthesis defect 16	Intellectual developmental disorder, autosomal rec.. [+] Intellectual developmental disorder, autosomal recessive 62 [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. [-]
COX deficiency, benign infantile mitochondrial myopathy	Isolated cytochrome C oxidase deficiency	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. [-]
Nicolaides-Baraitser syndrome	Intellectual disability-sparse hair-brachydactyly .. [+] Intellectual disability-sparse hair-brachydactyly syndrome; SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME [-]	A syndrome that is characterized by severely impai..[+] A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. [-]
CINCA Syndrome	infantile-onset multisystem inflammatory disease; .. [+] infantile-onset multisystem inflammatory disease; IOMID syndrome; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
hypogonadotropic hypogonadism	isolated congenital gonadotropin deficiency; conge.. [+] isolated congenital gonadotropin deficiency; congenital idiopathic hypogonadotropic hypogonadism; hypogonadotropism [-]	A hypogonadism characterized by a impaired signall..[+] A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. [-]	3 articles
hypogonadotropic hypogonadism 24 without anosmia	isolated follicle-stimulating hormone deficiency	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. [-]
aromatase excess syndrome	increased aromatase activity; AEXS; familial hyper.. [+] increased aromatase activity; AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
brain small vessel disease 1	infantile hemiparesis; brain small vessel disease .. [+] infantile hemiparesis; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; leukoencephalopathy with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
3-methylglutaconic aciduria type 3	Iraqi-Jewish optic atrophy plus; infantile optic a.. [+] Iraqi-Jewish optic atrophy plus; infantile optic atrophy with chorea and spastic paraplegia; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; Costeff optic atrophy syndrome; Costeff syndrome; MGA3; autosomal recessive optic atrophy type 3 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
neurodegeneration with brain iron accumulation 2a	INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; .. [+] Infantile Neuroaxonal Dystrophy 1; INAD1; NBIA2a; Neurodegeneration, Pla2g6-Associated; 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 and is characterized by onset in the first 2 years of life. [-]
type 1 diabetes mellitus 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. [-]
type 1 diabetes mellitus 3	Insulin-Dependent Diabetes Mellitus 3; IDDM3	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. [-]
type 1 diabetes mellitus 4	Insulin-Dependent Diabetes Mellitus 4; IDDM4	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. [-]
type 1 diabetes mellitus 5	IDDM5; Insulin-Dependent Diabetes Mellitus 5	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. [-]
type 1 diabetes mellitus 6	Insulin-Dependent Diabetes Mellitus 6; IDDM6	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. [-]
type 1 diabetes mellitus 7	Insulin-Dependent Diabetes Mellitus 7; IDDM7	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. [-]
type 1 diabetes mellitus 8	IDDM8; Insulin-Dependent Diabetes Mellitus 8	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. [-]
type 1 diabetes mellitus 10	Insulin-Dependent Diabetes Mellitus 10; IDDM10	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. [-]
type 1 diabetes mellitus 11	IDDM11; Insulin-Dependent Diabetes Mellitus 11	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. [-]
type 1 diabetes mellitus 12	Insulin-Dependent Diabetes Mellitus 12; IDDM12	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. [-]
type 1 diabetes mellitus 13	Insulin-Dependent Diabetes Mellitus 13; IDDM13	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. [-]
type 1 diabetes mellitus 15	Insulin-Dependent Diabetes Mellitus 15; IDDM15	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. [-]
type 1 diabetes mellitus 17	Insulin-Dependent Diabetes Mellitus 17; IDDM17	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. [-]
type 1 diabetes mellitus 18	Insulin-Dependent Diabetes Mellitus 18; IDDM18	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. [-]
type 1 diabetes mellitus 19	IDDM19; Insulin-Dependent Diabetes Mellitus 19	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. [-]
type 1 diabetes mellitus 20	Insulin-Dependent Diabetes Mellitus 20; IDDM20	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. [-]
type 1 diabetes mellitus 21	Insulin-Dependent Diabetes Mellitus 21; IDDM21	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. [-]
type 1 diabetes mellitus 22	Insulin-Dependent Diabetes Mellitus 22; IDDM22	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. [-]

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