Rare Disease Library

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Combined deficiency of factor VII and factor X

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to CARD11 deficiency

CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Combined immunodeficiency due to FCHO1 deficiency

Combined immunodeficiency due to GINS1 deficiency

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

Combined immunodeficiency due to HELIOS deficiency

CID due to HELIOS deficiency · Combined immunodeficiency due to IKZF2 deficiency

Combined immunodeficiency due to IKBKB deficiency

CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency

Combined immunodeficiency due to IL21R deficiency

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

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to ORAI1 deficiency

CID due to ORAI1 deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency with childhood-onset Kaposi sarcoma · Combined immunodeficiency with impaired immunity to HHV-8

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 immunoglobulins and normal B cells

CID with low Ig and normal B cells · Combined immunodeficiency low Ig and normal B cells

Combined pancreatic lipase-colipase deficiency

Combined T and B cell immunodeficiency

Complement component 3 deficiency

C3 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-severe combined immunodeficiency

Non-SCID

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency