Rare Disease Library

Alternating hemiplegia

Alternating hemiplegia of childhood

AHC

Well-differentiated liposarcoma

ALT · Atypical lipoma

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

Benign nocturnal alternating hemiplegia of childhood

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

Combined immunodeficiency due to MALT1 deficiency

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

FOXG1 syndrome due to intragenic alteration

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

High altitude pulmonary edema

HAPE

MALT lymphoma

Extranodal marginal zone B-cell lymphoma · MALToma

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance

OBSOLETE: CSID with minimal starch tolerance · OBSOLETE: Disaccharide intolerance with minimal starch tolerance

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance

OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance · OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance

OBSOLETE: CSID with starch intolerance · OBSOLETE: Disaccharide intolerance with starch intolerance

OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance

OBSOLETE: CSID without starch intolerance · OBSOLETE: Disaccharide intolerance without starch intolerance

OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance

OBSOLETE: CSID without sucrose intolerance · OBSOLETE: Disaccharide intolerance without sucrose intolerance

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

Salt-and-pepper syndrome

Teebi-Shaltout syndrome

Trichodermodysplasia-dental alterations syndrome

Pinheiro-Freire Maia-Miranda syndrome