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Disease	Synonyms	Description	Articles
idiopathic generalized epilepsy 3	EIG3	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. [-]
idiopathic generalized epilepsy 4	EIG4	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. [-]
idiopathic generalized epilepsy 5	EIG5	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. [-]
idiopathic generalized epilepsy 7	EIG7	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. [-]
idiopathic generalized epilepsy 8	EIG8	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. [-]
idiopathic generalized epilepsy 9	EIG9	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. [-]
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental r.. [+] FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental retardation with language impairment and with or without autistic features; FOXP1-Related Neurodevelopmental Disorder [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. [-]
isolated elevated serum creatine phosphokinase levels	idiopathic hyperCKemia; isolated hyperCKemia; elev.. [+] isolated hyperCKemia; idiopathic hyperCKemia; elevated serum CPK [-]	An inherited metabolic disorder characterized by e..[+] An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. [-]
isolated hyperchlorhidrosis	HYCHL; carbonic anhydrase XII deficiency	A skin disease characterized by excessive loss of ..[+] A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. [-]
IVIC syndrome	Instituto Venezolano de Investigaciones Cientifica.. [+] Instituto Venezolano de Investigaciones Cientificas syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; oculo-oto-radial syndrome; OORS [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
ischiocoxopodopatellar syndrome	ischiopatellar dysplasia; ischiocoxopodopatellar s.. [+] ischiopatellar dysplasia; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; small patella syndrome; SPS; patella aplasia, coxa vara, and tarsal synostosis; Scott-Taor syndrome [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	IBMPFD2; MSP2; multisystem proteinopathy 2	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	IBMPFD1; MSP1; multisystem proteinopathy 1	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	IBMPFD3; MSP3; multisystem proteinopathy 3	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. [-]
intellectual developmental disorder with short stature and behavioral abnormalities	IDDSSBA	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. [-]
isolated cryptophthalmia	CRYPTOP; unilateral or bilateral isolated cryptoph.. [+] CRYPTOP; unilateral or bilateral isolated cryptophthalmos [-]	A cryptophthalmia characterized by absence of the ..[+] A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. [-]
infantile hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy characterized by iso..[+] A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. [-]
ichthyosis follicularis-alopecia-photophobia syndrome 1	IFAP syndrome 1 with or without BRESHECK syndrome; .. [+] IFAP syndrome 1 with or without BRESHECK syndrome; IFAP syndrome 1; ichthyosis follicularis-atrichia-photophobia syndrome 1; IFAP syndrome; IFAP syndrome with or without BRESHECK syndrome; ichthyosis follicularis-atrichia-photophobia syndrome [-]	A syndrome characterized by ichthyosis folliculari..[+] A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
immunodeficiency 38	immunodeficiency 38, mycobacteriosis, autosomal re.. [+] immunodeficiency 38, mycobacteriosis, autosomal recessive; immunodeficiency 38 with basal ganglia calcification; IMD38; autosomal recessive ISG15 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. [-]
immunodeficiency 16	IMD16; combined immunodeficiency due to OX40 defic.. [+] IMD16; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; OX40 deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]

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