|
gptkb:CFTR
|
autosomal recessive
|
|
gptkb:cystic_fibrosis_with_G551D_mutation
|
autosomal recessive
|
|
gptkb:MPS_IV
|
autosomal recessive
|
|
gptkb:LZTR1_gene
|
autosomal dominant
|
|
gptkb:Cogan's_oculomotor_apraxia
|
autosomal recessive
|
|
gptkb:classic_hemophilia
|
X-linked recessive
|
|
gptkb:FANCS
|
autosomal recessive
|
|
gptkb:Wolff–Parkinson–White_syndrome
|
autosomal dominant (rare familial cases)
|
|
gptkb:5α-reductase_deficiency
|
autosomal recessive
|
|
gptkb:cEDS
|
autosomal dominant
|
|
gptkb:46,XY_sex_reversal
|
usually sporadic
|
|
gptkb:PRNP
|
sporadic
|
|
gptkb:Fairbank_disease
|
autosomal dominant
|
|
gptkb:neurofibromatosis_type_1
|
autosomal dominant
|
|
gptkb:Chua's_syndrome
|
autosomal recessive
|
|
gptkb:Gunther_disease
|
autosomal recessive
|
|
gptkb:SOD1_gene
|
autosomal recessive
|
|
gptkb:Kallmann_syndrome
|
autosomal dominant
|
|
gptkb:Short_QT_syndrome_3
|
familial
|
|
gptkb:Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1
|
autosomal recessive
|