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Disease Synonyms Description Articles Phenotypes
X-linked cone-rod dystrophy 1
COD1; CORDX1; X-linked cone dystrophy 1;
A cone-rod dystrophy that has_material_basis_in mu..[+]
X-linked cone-rod dystrophy 2
COD2; CORDX2; X-linked cone dystrophy 2;
A cone-rod dystrophy that has_material_basis_in va..[+]
X-linked cone-rod dystrophy 3
CORDX3;
A cone-rod dystrophy that has_material_basis_in mu..[+]
X-linked deafness 6
DFNX6;
An X-linked nonsyndromic deafness characterized by..[+]
X-linked dilated cardiomyopathy
CMD3B; DMD-related dilated cardiomyopathy;
A dilated cardiomyopathy that has_material_basis_i..[+]
X-linked disease
A monogenic disease that has_material_basis_in mua..[+]
X-linked dominant hypophosphatemic rickets
Hypophosphatemia, Vitamin D-Resistant Rickets; hyp.. [+]
A rickets has_material_basis_in X-linked mutations..[+]
X-linked dyskeratosis congenita
DKCX; Zinsser-Cole-Engman syndrome;
A dyskeratosis congenita that has_material_basis_i..[+]
X-linked dystonia-parkinsonism
A focal dystonia characterized by parkinsonism tha..[+]
X-linked endothelial corneal dystrophy
XECD;
A corneal endothelial dystrophy that is characteri..[+]
X-linked hereditary ataxia
n_a
X-linked hyper IgM syndrome
hyperimmunoglobulin M syndrome; hyperimmunoglobuli.. [+]
A hyper IgM syndrome that is characterized by neut..[+]
X-linked ichthyosis
X-linked ichthyosis with steryl-sulphatase deficie.. [+]
An ichthyosis that is characterized by a build-up ..[+]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
mental retardation, X-linked, syndromic 32; MRXS32.. [+]
A syndromic X-linked intellectual disability chara..[+]
X-linked intellectual disability-psychosis-macroorchidism syndrome
Lindsay-Burn syndrome; mental retardation with psy.. [+]
A syndromic X-linked intellectual disability chara..[+]
X-linked juvenile retinoschisis 1
X-linked juvenile retinoschisis; X-linked retinosc.. [+]
A retinoschisis characterized by schisis (splittin..[+]
X-linked lymphoproliferative syndrome 1
XLP1;
A lymphoproliferative syndrome characterized by X-..[+]
X-linked lymphoproliferative syndrome 2
XIAP deficiency; XLP2;
A lymphoproliferative syndrome characterized by X-..[+]
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
A syndromic X-linked intellectual disability chara..[+]
X-linked myopathy with excessive autophagy
XMEA;
n_a
X-linked nonsyndromic deafness
X-linked deafness;
A nonsyndromic deafness characterized by an X-link..[+]
X-linked panhypopituitarism
PHPX; pituitary dwarfism IV;
A panhypopituitarism that has_material_basis_in du..[+]
X-linked retinitis pigmentosa and sinorespiratory infections
primary ciliary dyskinesia-retinitis pigmentosa sy.. [+]
A syndrome characterized by retinitis pigmentosa a..[+]
X-linked severe congenital neutropenia
SCNX; XLN;
A severe congenital neutropenia that has_material_..[+]
X-linked sideroblastic anemia with ataxia
Anemia sideroblastic and spinocerebellar ataxia; X.. [+]
n_a
X-linked spermatogenic failure 1
SPGFX1;
A Sertoli cell-only syndrome characterized by X-li..[+]
X-linked spinocerebellar ataxia 1
SCAX1; X-linked progressive cerebellar ataxia;
An X-linked cerebellar ataxia characterized by hyp..[+]
X-linked spondyloepimetaphyseal dysplasia
SEMD X-linked; SEMDX;
A spondyloepimetaphyseal dysplasia that has_materi..[+]
X-linked spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia that is characteriz..[+]
X-linked thrombocytopenia with beta-thalassemia
beta-thalassemia-X-linked thrombocytopenia syndrom.. [+]
A hematopoietic system disease characterized by va..[+]
XFE progeroid syndrome
XFEPS; XPF-ERCC1 progeroid syndrome;
A syndrome characterized by aged bird-like facies,..[+]
Xia-Gibbs Syndrome
autosomal dominant mental retardation 25; MRD25;
An autosomal dominant non-syndromic intellectual d..[+]
Y-linked deafness 2
DFNY2;
A Y-linked deafness characterized by male-limited ..[+]
Y-linked disease
A monogenic disease that has_material_basis_in mua..[+]
Y-linked spermatogenic failure 1
SPGFY1; type I Sertoli cell-only syndrome; Y-linke.. [+]
A Sertoli cell-only syndrome that has_material_bas..[+]
Yunis-Varon syndrome
cleidocranial dysplasia with micrognathia, absent .. [+]
A syndrome characterized by skeletal defects, incl..[+]
Zellweger syndrome
cerebrohepatorenal syndrome ; congenital iron over.. [+]
A peroxisomal biogenesis disorder that is characte..[+]
Zika fever
Zika virus disease;
A viral infectious disease that has_material_basis..[+]
Zika virus congenital syndrome
ZIKV congenital infection;
A syndrome that is characterized in neonates by mi..[+]
Zollinger-Ellison syndrome
A syndrome that is haracterized by the development..[+]
abdominal aortic aneurysm
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;
An aortic aneurysm that is located_in the abdomina..[+]
abdominal obesity-metabolic syndrome
n_a
abdominal obesity-metabolic syndrome 1
abdominal obesity-metabolic syndrome 1; dysmetabol.. [+]
An abdominal obesity-metabolic syndrome characteri..[+]
abdominal obesity-metabolic syndrome 3
An abdominal obesity-metabolic syndrome that has_m..[+]
abdominal tuberculosis
An extrapulmonary tuberculosis that is located_in ..[+]
abducens nerve neoplasm
neoplasm of abducens nerve (disorder); VIth Crania.. [+]
n_a
abducens nerve palsy
Abducens nerve disorder; Abducens nerve weakness; .. [+]
A cranial nerve palsy characterized by lateral rec..[+]
abetalipoproteinemia
familial hypobetalipoproteinemia; microsomal trigl.. [+]
A hypolipoproteinemia that is characterized by an ..[+]
ablepharon macrostomia syndrome
poikiloderma with neutropenia, Clericuzio type;
A syndrome characterized by ablepharon, macrostomi..[+]
abnormal pupillary function
n_a

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