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"

57 matching diseasesClear search ×

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

ORPHA:504523

Severe congenital neutropenia due to G6PC3 deficiency

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

ORPHA:331176

Severe congenital neutropenia due to JAGN1 deficiency

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

ORPHA:423384

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

ORPHA:90118

Syndromic autoimmune enteropathy due to LRBA deficiency

Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein

ORPHA:445018

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency

ORPHA:1194

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

ORPHA:1878

Urocanic aciduria

Encephalopathy due to urocanase deficiency

ORPHA:210128

XMEN

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

ORPHA:317476