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"

10 matching diseasesClear search ×

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

ORPHA:169100

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

ORPHA:753

Combined immunodeficiency due to IL21R deficiency

CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency

ORPHA:357329

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency

ORPHA:319547

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency

ORPHA:319558

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency

ORPHA:319552

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

ORPHA:217382

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

ORPHA:314811

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA

ORPHA:210115