Rare Disease Library

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

Neurometabolic disorder due to serine deficiency

Serine deficiency

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Non-severe combined immunodeficiency

Non-SCID

Obesity due to congenital leptin deficiency

Severe combined immunodeficiency

SCID

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Severe congenital nemaline myopathy

Severe congenital neutropenia

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency · Severe MSMD due to complete IRF1 deficiency

T-B- severe combined immunodeficiency

T-B- SCID

T-B+ severe combined immunodeficiency

T-B+ SCID

T+ B+ severe combined immunodeficiency