Rare Disease Library

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

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acid sphingomyelinase deficiency

ASMD

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency · Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency · AR CID due to partial IL6ST deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

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 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 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 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 partial RAG1 deficiency

CID due to partial RAG1 deficiency · CID with expansion of gamma delta T cells

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 TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

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

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

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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

Danon disease

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

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