Rare Disease Library

Rare disorder potentially indicated for transplant

Rare disorder potentially indicated for transplant or complication after transplantation

Rare epithelial tumor of small intestine

Rare epithelial tumor of small bowel

Rare non surgically correctable form of primary aldosteronism

Rare surgically correctable form of primary aldosteronism

Rare tumor of gallbladder and extrahepatic biliary tract

Rare tumor of gallbladder and EBT

Rare tumor of small intestine

Rare tumor of small bowel

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Rift valley fever

Salla disease

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Sheldon-Hall syndrome

SSH · DA2B

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Small bowel atresia

Atresia of small bowel · SBA

Small cell carcinoma of the bladder

Poorly differentiated neuroendocrine carcinoma of the bladder · SCCB

Small cell carcinoma of the ovary

SCCO · Small cell ovarian carcinoma

Small cell lung cancer

SCLC

Small omphalocele

Minor omphalocele

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Splenic diffuse red pulp small B-cell lymphoma

SDRPL · Splenic diffuse red pulp lymphoma

Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of gallblader and EBT

Squamous cell carcinoma of the small intestine

Squamous cell carcinoma of the small bowel

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

Syndromic diaphragmatic or abdominal wall malformation

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tall stature-scoliosis-macrodactyly of the halluces syndrome

Tetralogy of Fallot

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Curatolo-Cilio-Pessagno syndrome

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

X small rings syndrome

X-linked complicated corpus callosum dysgenesis

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability, Golabi-Ito-Hall type

Precursor B-cell acute lymphoblastic leukemia

B-ALL · Precursor B-cell acute lymphoblastic leukemia/lymphoma

Precursor T-cell acute lymphoblastic leukemia

Precursor T-cell acute lymphoblastic leukemia/lymphoma · Precursor T-cell acute lymphocytic leukemia