Rare Disease Library

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Citrin deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Complement component 3 deficiency

C3 deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

L-ferritin deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

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

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

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Xanthinuria type I

XDH deficiency · XO deficiency