Rare Disease Library

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

Preeclampsia

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Pyogenic autoinflammatory syndrome

Pyogenic autoinflammatory syndrome of childhood

Qualitative or quantitative defects of filamin C

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

ROHHAD · ROHHADNET

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare female infertility due to gonadotropic axis disorder · Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare female infertility due to gonadotropic axis disorder of genetic origin · Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

Rare genetic hypothalamic or pituitary disease

Rare genetic inflammatory/autoimmune corneal disorder

Rare hereditary autoinflammatory disease

Rare hypothalamic or pituitary disease

Rare inflammatory bowel disease

Rare inflammatory/autoimmune corneal disorder

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare male infertility due to gonadotropic axis disorder · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare male infertility due to gonadotropic axis disorder of genetic origin · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

Rare neuroinflammatory or neuroimmunological disease

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Severe dilated cardiomyopathy due to lamin A/C mutation

Severe dilated cardiomyopathy with or without myopathy

Severe primary trimethylaminuria

TMAU

Subacute inflammatory demyelinating polyneuropathy

Subacute inflammatory demyelinating polyradiculoneuropathy

Symmetrical thalamic calcifications

Bilateral symmetrical thalamic gliosis

Systemic inflammatory disease associated with an acquired peripheral neuropathy

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome · INFLTR8

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood

Unexplained long-lasting fever/inflammatory syndrome

Persistent fever/inflammation of unknown origin

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency