Rare Disease Library

Fatal familial insomnia

FFI

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

Acquired chronic primary adrenal insufficiency

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

Coffin-Lowry syndrome

CLS

Coffin-Siris syndrome

CSS

Combined immunodeficiency due to FOXN1 haploinsufficiency

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Congenital mitral valve insufficiency and/or stenosis

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

Female adnexal tumor of probable Wolffian origin

FATWO

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

Genetic chronic primary adrenal insufficiency

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Low oxygen affinity gamma chain hemoglobin disease

Macrothrombocytopenia with mitral valve insufficiency

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

OBSOLETE: Chondrodysplasia punctata, Sheffield type

OBSOLETE: Congenital aortic valve insufficiency

OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

OBSOLETE: Platelet function disease associated with renal insufficiency

Pancreatic insufficiency-anemia-hyperostosis syndrome

PDE4D haploinsufficiency syndrome

Placental insufficiency

Uteroplacental vascular insufficiency

Primary adrenal insufficiency

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

Ptosis-syndactyly-learning difficulties syndrome

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

Symptomatic form of Coffin-Lowry syndrome in female carriers