Rare Disease Library

Autosomal recessive spastic paraplegia type 57

SPG57 · Spastic paraplegia due to partial TFG 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 mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant MSMD due to a partial 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 mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

Autosomal spastic paraplegia type 18

SPG18

Autosomal spastic paraplegia type 30

SPG30

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Autosomal spastic paraplegia type 72

SPG72

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 STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

Fish-eye disease

FED · Partial LCAT deficiency

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency

Spastic ataxia-dysarthria due to glutaminase deficiency

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

Spastic paraplegia type 7

SPG7