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"

68 matching diseasesClear search ×

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MSMD due to complete ISG15 deficiency

ORPHA:319563

OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect

OBSOLETE: CVID due to an intrinsic T cell defect

ORPHA:99831

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

ORPHA:183672

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

ORPHA:443811

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

ORPHA:75391

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 CD45 deficiency

T-B+ SCID due to CD45 deficiency

ORPHA:169157

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

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

ORPHA:276

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ SCID due to IL-7Ralpha deficiency

ORPHA:169154

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

ORPHA:35078

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

ORPHA:324294

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

ORPHA:653751

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency

ORPHA:317476