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"

5 matching diseasesClear search ×

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia · CID due to GINS1 deficiency

ORPHA:505227

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

ORPHA:169079

Combined immunodeficiency due to partial RAG1 deficiency

CID due to partial RAG1 deficiency · CID with expansion of gamma delta T cells

ORPHA:231154

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

ORPHA:157949

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

ORPHA:619941