Search Diseases
???pagination.result.count???
???pagination.result.page??? ???pagination.result.prev??? 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 ???pagination.result.next???
Disease | Synonyms | Description | Articles | Phenotypes |
---|---|---|---|---|
X-linked lissencephaly 2 |
X-linked lissencephaly with abnormal genitalia; X-..
[+]
|
A lissencephaly characterized by structural brain ..[+]
|
||
X-linked lymphoproliferative syndrome 1 |
XLP1;
|
A lymphoproliferative syndrome characterized by se..[+]
|
||
X-linked lymphoproliferative syndrome 2 |
XIAP deficiency; XLP2;
|
A lymphoproliferative syndrome characterized by X-..[+]
|
||
X-linked mental retardation Gustavson type |
mental retardation with optic atrophy, deafness an..
[+]
|
A syndromic X-linked intellectual disability that ..[+]
|
||
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
|
A syndromic X-linked intellectual disability chara..[+]
|
||
X-linked monogenic disease |
|
A monogenic disease that has_material_basis_in mut..[+]
|
14 articles | 18 matches |
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
X-linked Olmsted syndrome; OLMSX;
|
A mutilating palmoplantar keratoderma with periori..[+]
|
||
X-linked myopathy with excessive autophagy |
XMEA;
|
A myopathy that is characterized by childhood onse..[+]
|
||
X-linked nephrogenic diabetes insipidus |
nephrogenic diabetes insipidus type 1;
|
A nephrogenic diabetes insipidus that is character..[+]
|
||
X-linked nephrolithiasis type I |
nephrolithiasis 1; NPHL1; X-linked nephrolithiasis..
[+]
|
A renal tubular transport disease characterized by..[+]
|
||
X-linked nonsyndromic deafness |
X-linked deafness;
|
A nonsyndromic deafness characterized by an X-link..[+]
|
1 articles | |
X-linked panhypopituitarism |
PHPX; pituitary dwarfism IV;
|
A panhypopituitarism that has_material_basis_in du..[+]
|
||
X-linked parkinsonism-spasticity syndrome |
X-linked Parkinsonism with spasticity; XPDS;
|
A movement disease characterized by slowly progres..[+]
|
||
X-linked properdin deficiency |
CFPD; complement factor properdin deficiency;
|
A complement deficiency characterized by decreased..[+]
|
||
X-linked recessive hypophosphatemic rickets |
|
A rickets that has_material_basis_in mutation in t..[+]
|
||
X-linked reticulate pigmentary disorder |
Partington disease; PDR; X-linked reticulate pigme..
[+]
|
A pigmentation disease characterized by early onse..[+]
|
||
X-linked retinitis pigmentosa and sinorespiratory infections |
primary ciliary dyskinesia-retinitis pigmentosa sy..
[+]
|
A syndrome characterized by retinitis pigmentosa a..[+]
|
||
X-linked severe combined immunodeficiency |
SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li..
[+]
|
A severe combined immunodeficiency that is a X-lin..[+]
|
||
X-linked severe congenital neutropenia |
SCNX; XLN;
|
A severe congenital neutropenia that has_material_..[+]
|
||
X-linked sideroblastic anemia with ataxia |
X-linked sideroblastic anemia and ataxia; Anemia s..
[+]
|
A sideroblastic anemia that is characterized by de..[+]
|
||
X-linked spermatogenic failure 1 |
SPGFX1;
|
A Sertoli cell-only syndrome characterized by X-li..[+]
|
||
X-linked spermatogenic failure 2 |
SPGFX2;
|
A spermatogenic failure that is characterized by m..[+]
|
||
X-linked spermatogenic failure 3 |
SPGFX3;
|
A spermatogenic failure characterized by asthenote..[+]
|
||
X-linked spinal muscular atrophy 2 |
X-linked distal arthrogryposis multiplex congenita..
[+]
|
A spinal muscular atrophy characterized by neonata..[+]
|
||
X-linked spinocerebellar ataxia 1 |
X-linked progressive cerebellar ataxia; SCAX1;
|
An X-linked cerebellar ataxia characterized by hyp..[+]
|
||
X-linked spinocerebellar ataxia 2 |
cerebellar ataxia with extrapyramidal involvement ..
[+]
|
An X-linked cerebellar ataxia characterized by inf..[+]
|
||
X-linked spinocerebellar ataxia 3 |
SCAX3; X-linked ataxia-deafness syndrome; X-linked..
[+]
|
An X-linked cerebellar ataxia characterized by ons..[+]
|
||
X-linked spinocerebellar ataxia 4 |
SCAX4; X-linked ataxia-dementia syndrome; X-linked..
[+]
|
An X-linked cerebellar ataxia characterized by ata..[+]
|
||
X-linked spinocerebellar ataxia 5 |
X-linked non progressive cerebellar ataxia; SCAX5;..
[+]
|
An X-linked cerebellar ataxia characterized by neo..[+]
|
||
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..[+]
|
||
X-linked thrombophilia due to factor IX defect |
THPH8;
|
A thrombophilia characterized by normal levels of ..[+]
|
||
X-linked warfarin sensitivity |
|
An inherited metabolic disorder that is characteri..[+]
|
||
XFE progeroid syndrome |
XFEPS; XPF-ERCC1 progeroid syndrome;
|
A progeroid syndrome that is characterized by aged..[+]
|
1 articles | |
Xia-Gibbs Syndrome |
MRD25; autosomal dominant mental retardation 25;
|
An autosomal dominant intellectual developmental d..[+]
|
||
Y-linked deafness |
DFNY;
|
A nonsyndromic deafness characterized by a Y-lnked..[+]
|
||
Y-linked deafness 1 |
DFNY1;
|
A Y-linked deafness characterized by male-limited ..[+]
|
||
Y-linked deafness 2 |
DFNY2;
|
A Y-linked deafness characterized by male-limited ..[+]
|
||
Y-linked monogenic disease |
|
A monogenic disease that has_material_basis_in mut..[+]
|
||
Y-linked spermatogenic failure 1 |
SPGFY1; type I Sertoli cell-only syndrome; Y-linke..
[+]
|
A Sertoli cell-only syndrome that has_material_bas..[+]
|
||
Y-linked spermatogenic failure 2 |
nonobstructive Y-linked spermatogenic failure; SPG..
[+]
|
A spermatogenic failure that is characterized by n..[+]
|
||
Yoon-Bellen neurodevelopmental syndrome |
YOBELN;
|
A syndrome characterized by onset in the first dec..[+]
|
||
Yunis-Varon syndrome |
cleidocranial dysplasia-micrognathia-absent thumbs..
[+]
|
A syndrome characterized by skeletal defects, incl..[+]
|
||
ZTTK syndrome |
Zhu-Tokita-Takenouchi-Kim syndrome; ZTTK MULTIPLE ..
[+]
|
A syndrome characterized by delayed psychomotor de..[+]
|
||
Zaki syndrome |
|
A syndrome characterized by developmental delay, p..[+]
|
||
Zellweger syndrome |
congenital iron overload; peroxisome biogenesis di..
[+]
|
A peroxisomal biogenesis disorder that is characte..[+]
|
||
Zika fever |
Zika virus disease;
|
A viral infectious disease that has_material_basis..[+]
|
1 articles | |
Zika virus congenital syndrome |
ZIKV congenital infection;
|
A syndrome that is characterized in neonates by mi..[+]
|
||
Zollinger-Ellison syndrome |
|
A syndrome that is characterized by the developmen..[+]
|
???pagination.result.page??? ???pagination.result.prev??? 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 ???pagination.result.next???