Rare Disease Library

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

48,XXXY syndrome

48,XXYY syndrome

48,XYYY syndrome

49,XXXXY syndrome

49,XXXYY syndrome

49,XYYYY syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Down syndrome

Trisomy 21

Dubowitz syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Pentasomy X syndrome

49,XXXXX syndrome · Penta-X

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest

Syndrome with woolly hair

Tetrasomy X syndrome

48,XXXX syndrome · Quadruple X

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

West syndrome

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked intellectual disability, Wittwer type

Wittwer syndrome