Rare Disease Library

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Combined immunodeficiency due to RELB deficiency

CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency due to TBX1 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Combined immunodeficiency due to ZAP70 deficiency

Zeta-associated-protein 70 deficiency

Combined immunodeficiency with granulomatosis

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

Combined immunodeficiency with low Ig due to BCL10 deficiency

Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency · CID with low Ig due to BCL10 deficiency

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency · CID-cancer predisposing syndrome due to AIOLOS deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Common variable immunodeficiency phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency · CVID phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency

Common variable immunodeficiency phenotype due to TWEAK deficiency

CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis

Complement component 3 deficiency

C3 deficiency

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

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

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Epidermolysis bullosa simplex due to BP230 deficiency

DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency

Epidermolysis bullosa simplex due to exophilin 5 deficiency

EBS due to exophilin 5 deficiency

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

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

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

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency due to ficolin3 deficiency