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Disease	Synonyms	Description
X-linked cone-rod dystrophy 1	COD1; CORDX1; X-linked cone dystrophy 1;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. [-]
X-linked cone-rod dystrophy 2	COD2; CORDX2; X-linked cone dystrophy 2;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. [-]
X-linked cone-rod dystrophy 3	CORDX3;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. [-]
X-linked deafness 6	DFNX6;	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. [-]
X-linked dilated cardiomyopathy	CMD3B; DMD-related dilated cardiomyopathy;	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. [-]
X-linked disease		A monogenic disease that has_material_basis_in mua..[+] A monogenic disease that has_material_basis_in muations in genes on the X chromosome. [-]
X-linked dominant hypophosphatemic rickets	Hypophosphatemia, Vitamin D-Resistant Rickets; hyp.. [+] Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia; [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]
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 DKC1 on chromosome Xq28. [-]
X-linked dystonia-parkinsonism		A focal dystonia characterized by parkinsonism tha..[+] A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1. [-]
X-linked endothelial corneal dystrophy	XECD;	A corneal endothelial dystrophy that is characteri..[+] A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. [-]
X-linked hereditary ataxia		n_a
X-linked hyper IgM syndrome	hyperimmunoglobulin M syndrome; hyperimmunoglobuli.. [+] hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndrome (disorder); [-]	A hyper IgM syndrome that is characterized by neut..[+] A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26. [-]
X-linked ichthyosis	X-linked ichthyosis with steryl-sulphatase deficie.. [+] X-linked ichthyosis with steryl-sulphatase deficiency; X-linked placental steryl-sulphatase deficiency; X-linked recessive ichthyosis; [-]	An ichthyosis that is characterized by a build-up ..[+] An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. [-]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	mental retardation, X-linked, syndromic 32; MRXS32.. [+] mental retardation, X-linked, syndromic 32; MRXS32; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	Lindsay-Burn syndrome; mental retardation with psy.. [+] Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
X-linked juvenile retinoschisis 1	X-linked juvenile retinoschisis; X-linked retinosc.. [+] X-linked juvenile retinoschisis; X-linked retinoschisis; XLRS; [-]	A retinoschisis characterized by schisis (splittin..[+] A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. [-]
X-linked lymphoproliferative syndrome 1	XLP1;	A lymphoproliferative syndrome characterized by X-..[+] A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in mutation in the SH2D1A gene on chromosome Xq25. [-]
X-linked lymphoproliferative syndrome 2	XIAP deficiency; XLP2;	A lymphoproliferative syndrome characterized by X-..[+] A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. [-]
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 myopathy with excessive autophagy	XMEA;	n_a
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. [-]
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 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 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	Anemia sideroblastic and spinocerebellar ataxia; X.. [+] Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anemia and ataxia; [-]	n_a
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 spinocerebellar ataxia 1	SCAX1; X-linked progressive cerebellar ataxia;	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 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. [-]
XFE progeroid syndrome	XFEPS; XPF-ERCC1 progeroid syndrome;	A syndrome characterized by aged bird-like facies,..[+] A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. [-]
Xia-Gibbs Syndrome	autosomal dominant mental retardation 25; MRD25;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3. [-]
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 disease		A monogenic disease that has_material_basis_in mua..[+] A monogenic disease that has_material_basis_in muations 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. [-]
Yunis-Varon syndrome	cleidocranial dysplasia with micrognathia, absent .. [+] cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; cleidocranial dysplasia-micrognathia-absent thumbs syndrome; [-]	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. [-]
Zellweger syndrome	cerebrohepatorenal syndrome ; congenital iron over.. [+] cerebrohepatorenal syndrome ; congenital iron overload; peroxisome biogenesis disorder; [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual 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. [-]
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 haracterized by the development..[+] A syndrome that is haracterized 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		n_a
abdominal obesity-metabolic syndrome 1	abdominal obesity-metabolic syndrome 1; dysmetabol.. [+] abdominal obesity-metabolic syndrome 1; dysmetabolic syndrome X; 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. [-]
abdominal obesity-metabolic syndrome 3		An abdominal obesity-metabolic syndrome that has_m..[+] An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. [-]
abdominal tuberculosis		An extrapulmonary tuberculosis that is located_in ..[+] An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. [-]
abducens nerve neoplasm	neoplasm of abducens nerve (disorder); VIth Crania.. [+] neoplasm of abducens nerve (disorder); VIth Cranial nerve tumors; [-]	n_a
abducens nerve palsy	Abducens nerve disorder; Abducens nerve weakness; .. [+] Abducens nerve disorder; Abducens nerve weakness; disorder of abducent nerve; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); Sixth or abducens nerve palsy; VIth nerve disorder; VIth nerve Paralysis; abducens nerve disease; abducens palsy; Sixth cranial nerve disorder; Sixth nerve palsy; [-]	A cranial nerve palsy characterized by lateral rec..[+] A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. [-]
abetalipoproteinemia	familial hypobetalipoproteinemia; microsomal trigl.. [+] familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease; [-]	A hypolipoproteinemia that is characterized by an ..[+] A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). [-]
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type;	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
abnormal pupillary function		n_a

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