Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Sennetsu Fever

Also known as: Human Ehrlichial Infection Human Ehrlichial Infection Human Ehrlichial Infection, Sennetsu Type Sennetsu Type

NORD Rare Disease Report
SETBP1 Haploinsufficiency Disorder

Also known as: SETBP1-related disorder SETBP1-related intellectual disability SETBP1-related developmental delay SETBP1 disorder MRD29 SETBP1-HD

NORD Rare Disease Report
Setleis Syndrome

Also known as: Bitemporal Forceps Marks Syndrome Facial Ectodermal Dysplasia FFDD Type II Focal Facial Dermal Dysplasia Type II

NORD Rare Disease Report
Shashi-Pena Syndrome

Also known as: ASXL2/Shashi-Pena syndrome

* También disponible en español

NORD Rare Disease Report
Sheehan Syndrome

Also known as: postpartum hypopituitarism postpartum panhypopituitarism postpartum panhypopituitary syndrome postpartum pituitary necrosis SS

* También disponible en español

NORD Rare Disease Report
SHORT Syndrome

Also known as: Aarskog-Ose-Pande syndrome lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome PIK3R1-associated syndromic insulin resistance with lipoatrophy

* También disponible en español

NORD Rare Disease Report
Shprintzen Goldberg Syndrome

Also known as: SGS Marfanoid-craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome craniosynostosis with arachnodactyly and abdominal hernias marfanoid disorder with craniosynostosis type 1 Shprintzen-Goldberg marfanoid syndrome

* También disponible en español

NORD Rare Disease Report
Shwachman Diamond Syndrome

Also known as: lipomatosis of pancreas, congenital pancreatic insufficiency and bone marrow dysfunction Shwachman-Bodian syndrome Shwachman-Diamond-Oski syndrome Shwachman syndrome

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