Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Severe combined immunodeficiency

SCID

ORPHA:183660

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

ORPHA:277

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

ORPHA:331206

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

ORPHA:228003

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

ORPHA:420573

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

ORPHA:275

Severe combined immunodeficiency due to DNA-PKcs deficiency

SCID due to DNA-PKcs deficiency

ORPHA:317425

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

ORPHA:169095

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

ORPHA:504523

T-B+ severe combined immunodeficiency due to gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

ORPHA:276

Non-severe combined immunodeficiency

Non-SCID

ORPHA:480549

T-B- severe combined immunodeficiency

T-B- SCID

ORPHA:317419

T-B+ severe combined immunodeficiency

T-B+ SCID

ORPHA:317416