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gptkb:heterozygous_familial_hypercholesterolemia
|
autosomal dominant
|
|
gptkb:Charcot-Marie-Tooth_disease_type_2K
|
autosomal dominant
|
|
gptkb:centronuclear_myopathy
|
autosomal recessive
|
|
gptkb:creatine_transporter_deficiency
|
X-linked recessive
|
|
gptkb:Bassen-Kornzweig_syndrome
|
autosomal recessive
|
|
gptkb:Long_QT_syndrome_7
|
autosomal dominant
|
|
gptkb:Hirschsprung_disease
|
autosomal recessive (rarely)
|
|
gptkb:neurofibromatosis_type_1
|
autosomal dominant
|
|
gptkb:DiGeorge_syndrome
|
autosomal dominant
|
|
gptkb:autosomal_dominant_familial_exudative_vitreoretinopathy
|
autosomal dominant
|
|
gptkb:glucocerebrosidase_deficiency
|
autosomal recessive
|
|
gptkb:frontonasal_dysplasia
|
autosomal recessive
|
|
gptkb:nonketotic_hyperglycinemia
|
autosomal recessive
|
|
gptkb:PRF1_gene
|
autosomal recessive
|
|
gptkb:familial_thrombocytopenia
|
autosomal dominant
|
|
gptkb:hereditary_nephropathy
|
autosomal recessive
|
|
gptkb:dystrophic_epidermolysis_bullosa
|
autosomal recessive
|
|
gptkb:early_infantile_epileptic_encephalopathy_3
|
autosomal recessive
|
|
gptkb:I113T
|
autosomal dominant
|
|
gptkb:cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy
|
autosomal dominant
|