Rare Disease Library

Bifunctional enzyme deficiency

Bile acid CoA ligase deficiency and defective amidation

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Bleeding diathesis due to glycoprotein VI deficiency

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Bleeding diathesis due to thromboxane synthesis deficiency

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

CDKL5-deficiency disorder

CDD

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

Chronic neurovisceral acid sphingomyelinase deficiency

Chronic neurovisceral ASMD · Niemann-Pick disease type A/B

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

Chronic respiratory distress with surfactant metabolism deficiency

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

Citrin deficiency

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic 21-OHD CAH, simple virilizing form

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Cochlear nerve deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined 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 CRAC channel dysfunction

Immune dysfunction due to T-cell inactivation due to calcium entry defect

Combined immunodeficiency due to dimerization defective IKAROS mutation

Combined immunodeficiency due to dimerization defective IKZF1 mutation · CID due to IKAROS dimerization defective mutation

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