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Disease	Synonyms	Description	Articles	Phenotypes
X-linked mental retardation Gustavson type	mental retardation with optic atrophy, deafness an.. [+] mental retardation with optic atrophy, deafness and seizures; [-]	A syndromic X-linked intellectual disability that ..[+] A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. [-]
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance		A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. [-]
X-linked monogenic disease		A monogenic disease that has_material_basis_in mut..[+] A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. [-]	14 articles	18 matches
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	X-linked Olmsted syndrome; OLMSX;	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
X-linked myopathy with excessive autophagy	XMEA;	A myopathy that is characterized by childhood onse..[+] A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. [-]
X-linked nephrogenic diabetes insipidus	nephrogenic diabetes insipidus type 1;	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. [-]
X-linked nephrolithiasis type I	nephrolithiasis 1; NPHL1; X-linked nephrolithiasis.. [+] nephrolithiasis 1; NPHL1; X-linked nephrolithiasis with renal failure; X-linked recessive urolithiasis type 1; XRN; nephrolithiasis X-linked recessive type 1; [-]	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. [-]
X-linked nonsyndromic deafness	X-linked deafness;	A nonsyndromic deafness characterized by an X-link..[+] A nonsyndromic deafness characterized by an X-linked inheritance mode. [-]	1 articles
X-linked panhypopituitarism	PHPX; pituitary dwarfism IV;	A panhypopituitarism that has_material_basis_in du..[+] A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. [-]
X-linked parkinsonism-spasticity syndrome	X-linked Parkinsonism with spasticity; XPDS;	A movement disease characterized by slowly progres..[+] A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. [-]
X-linked properdin deficiency	CFPD; complement factor properdin deficiency;	A complement deficiency characterized by decreased..[+] A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. [-]
X-linked recessive hypophosphatemic rickets		A rickets that has_material_basis_in mutation in t..[+] A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. [-]
X-linked reticulate pigmentary disorder	Partington disease; PDR; X-linked reticulate pigme.. [+] Partington disease; PDR; X-linked reticulate pigmentary disorder with systemic manifestations; [-]	A pigmentation disease characterized by early onse..[+] A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
X-linked retinitis pigmentosa and sinorespiratory infections	primary ciliary dyskinesia-retinitis pigmentosa sy.. [+] primary ciliary dyskinesia-retinitis pigmentosa syndrome; [-]	A syndrome characterized by retinitis pigmentosa a..[+] A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. [-]
X-linked severe combined immunodeficiency	SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li.. [+] SCID-X1; thymic epithelial hypoplasia; XSCID; X-Linked Severe Combined Immunodeficiency; gamma chain deficiency; [-]	A severe combined immunodeficiency that is a X-lin..[+] A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. [-]
X-linked severe congenital neutropenia	SCNX; XLN;	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. [-]
X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anemia and ataxia; Anemia s.. [+] X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with ataxia; Anemia, sideroblastic, spinocerebellar ataxia; [-]	A sideroblastic anemia that is characterized by de..[+] A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. [-]
X-linked spermatogenic failure 1	SPGFX1;	A Sertoli cell-only syndrome characterized by X-li..[+] A Sertoli cell-only syndrome characterized by X-linked inheritance. [-]
X-linked spermatogenic failure 2	SPGFX2;	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. [-]
X-linked spermatogenic failure 3	SPGFX3;	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. [-]
X-linked spinal muscular atrophy 2	X-linked distal arthrogryposis multiplex congenita.. [+] X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; infantile-onset X-linked spinal muscular atrophy; SMAX2; spinal muscular atrophy with arthrogryposis; [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
X-linked spinocerebellar ataxia 1	X-linked progressive cerebellar ataxia; SCAX1;	An X-linked cerebellar ataxia characterized by hyp..[+] An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. [-]
X-linked spinocerebellar ataxia 2	cerebellar ataxia with extrapyramidal involvement .. [+] cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2; [-]	An X-linked cerebellar ataxia characterized by inf..[+] An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 3	SCAX3; X-linked ataxia-deafness syndrome; X-linked.. [+] SCAX3; X-linked ataxia-deafness syndrome; X-linked spinocerebellar ataxia type 3; [-]	An X-linked cerebellar ataxia characterized by ons..[+] An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 4	SCAX4; X-linked ataxia-dementia syndrome; X-linked.. [+] SCAX4; X-linked ataxia-dementia syndrome; X-linked spinocerebellar ataxia type 4; [-]	An X-linked cerebellar ataxia characterized by ata..[+] An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 5	X-linked non progressive cerebellar ataxia; SCAX5;.. [+] X-linked non progressive cerebellar ataxia; SCAX5; Spinocerebellar Ataxia, X-Linked 5; [-]	An X-linked cerebellar ataxia characterized by neo..[+] An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. [-]
X-linked spondyloepimetaphyseal dysplasia	SEMD X-linked; SEMDX;	A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. [-]
X-linked spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia that is characteriz..[+] A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. [-]
X-linked thrombocytopenia with beta-thalassemia	beta-thalassemia-X-linked thrombocytopenia syndrom.. [+] beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT; [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
X-linked thrombophilia due to factor IX defect	THPH8;	A thrombophilia characterized by normal levels of ..[+] A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. [-]
X-linked warfarin sensitivity		An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. [-]
XFE progeroid syndrome	XFEPS; XPF-ERCC1 progeroid syndrome;	A progeroid syndrome that is characterized by aged..[+] A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. [-]	1 articles
Xia-Gibbs Syndrome	MRD25; autosomal dominant mental retardation 25;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. [-]
Y-linked deafness	DFNY;	A nonsyndromic deafness characterized by a Y-lnked..[+] A nonsyndromic deafness characterized by a Y-lnked inheritance mode. [-]
Y-linked deafness 1	DFNY1;	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. [-]
Y-linked deafness 2	DFNY2;	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. [-]
Y-linked monogenic disease		A monogenic disease that has_material_basis_in mut..[+] A monogenic disease that has_material_basis_in mutations on the Y chromosome. [-]
Y-linked spermatogenic failure 1	SPGFY1; type I Sertoli cell-only syndrome; Y-linke.. [+] SPGFY1; type I Sertoli cell-only syndrome; Y-linked Sertoli cell-only syndrome; [-]	A Sertoli cell-only syndrome that has_material_bas..[+] A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. [-]
Y-linked spermatogenic failure 2	nonobstructive Y-linked spermatogenic failure; SPG.. [+] nonobstructive Y-linked spermatogenic failure; SPGFY2; [-]	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. [-]
Yoon-Bellen neurodevelopmental syndrome	YOBELN;	A syndrome characterized by onset in the first dec..[+] A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. [-]
Yunis-Varon syndrome	cleidocranial dysplasia-micrognathia-absent thumbs.. [+] cleidocranial dysplasia-micrognathia-absent thumbs syndrome; cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; [-]	A syndrome characterized by skeletal defects, incl..[+] A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. [-]
ZTTK syndrome	Zhu-Tokita-Takenouchi-Kim syndrome; ZTTK MULTIPLE .. [+] Zhu-Tokita-Takenouchi-Kim syndrome; ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. [-]
Zaki syndrome		A syndrome characterized by developmental delay, p..[+] A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. [-]
Zellweger syndrome	congenital iron overload; peroxisome biogenesis di.. [+] congenital iron overload; peroxisome biogenesis disorder; cerebrohepatorenal syndrome ; [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. [-]
Zika fever	Zika virus disease;	A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. [-]	1 articles
Zika virus congenital syndrome	ZIKV congenital infection;	A syndrome that is characterized in neonates by mi..[+] A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. [-]
Zollinger-Ellison syndrome		A syndrome that is characterized by the developmen..[+] A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. [-]
abdominal aortic aneurysm	AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;	An aortic aneurysm that is located_in the abdomina..[+] An aortic aneurysm that is located_in the abdominal aorta. [-]
abdominal obesity-metabolic syndrome		A syndrome that is characterized by abdominal obes..[+] A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. [-]
abdominal obesity-metabolic syndrome 1	dysmetabolic syndrome X; abdominal obesity-metabol.. [+] dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1; metabolic syndrome X; [-]	An abdominal obesity-metabolic syndrome characteri..[+] An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. [-]

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