Rare Disease Library

Hypereosinophilic syndrome

HES

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Lymphocytic hypereosinophilic syndrome

HES-L · Lymphocytic variant HES

Primary hypereosinophilic syndrome

Clonal hypereosinophilic syndrome · HES-M

Secondary hypereosinophilic syndrome

HES-R · Reactive hypereosinophilic syndrome

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

Bile acid synthesis defect with cholestasis and malabsorption

Bleeding diathesis due to a collagen receptor defect

Bleeding diathesis due to glycoprotein VI deficiency

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Bleeding diathesis due to thromboxane synthesis deficiency

Congenital bile acid synthesis defect

BASD

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

Congenital bile acid synthesis defect type 2

Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Congenital trigeminal anesthesia

Disorder of bile acid synthesis

Disorder of catecholamine synthesis

Disorder of fucoglycosan synthesis

Disorder of O-mannosylglycan synthesis

Disorder of O-N-acetylgalactosaminylglycan synthesis

Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis

Disorder of O-xylosylglycan synthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Disorder of plasmalogens biosynthesis

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

Erdheim-Chester disease

Esthesioneuroblastoma

Olfactory neuroblastoma

Facial diplegia with paresthesias

Facial diplegia with paresthesias variant of Guillain-Barré syndrome · Facial diplegia with paresthesias variant of GBS

Hughes-Stovin syndrome

Idiopathic malabsorption due to bile acid synthesis defects

Idiopathic bile acid malabsorption

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

Leukocyte adhesion deficiency

LAD

Leukocyte adhesion deficiency type I

LAD-I

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

Lipoic acid biosynthesis defect

Lipoate biosynthesis defect

Malignant hyperthermia of anesthesia

Hyperthermia of anesthesia

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

OBSOLETE: Congenital absence of the eyebrow/eyelashes

OBSOLETE: Disorder in the hormonal synthesis with or without goiter