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gptkb:Epilepsy,_progressive_myoclonus_type_1
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autosomal recessive
|
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gptkb:Mitochondrial_neurogastrointestinal_encephalomyopathy
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autosomal recessive
|
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gptkb:Porphyria_Cutanea_Tarda
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autosomal dominant
|
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gptkb:thrombasthenia_of_Glanzmann_and_Naegeli
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autosomal recessive
|
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gptkb:OMIM:160790
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Mendelian
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gptkb:mucolipidosis_type_IV
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autosomal recessive
|
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gptkb:Hypophosphatasia
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autosomal recessive
|
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gptkb:SOD1-G93A_mouse
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autosomal dominant
|
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gptkb:Jak3_deficiency_SCID
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autosomal recessive
|
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gptkb:GM1_gangliosidosis
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autosomal recessive
|
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gptkb:mitochondrial_DNA_depletion_syndrome_7_(encephalomyopathic_with_or_without_methylmalonic_aciduria)
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autosomal recessive
|
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gptkb:Ataxia-telangiectasia
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autosomal recessive
|
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gptkb:Jervell_and_Lange-Nielsen_syndrome
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autosomal recessive
|
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gptkb:Severe_Combined_Immunodeficiency_(SCID)
|
autosomal recessive
|
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gptkb:spinocerebellar_ataxia_17
|
autosomal dominant
|
|
gptkb:familial_spastic_paraparesis
|
autosomal recessive
|
|
gptkb:Glycogen_Storage_Disease_Type_II
|
autosomal recessive
|
|
gptkb:Hemophagocytic_Lymphohistiocytosis
|
autosomal recessive
|
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gptkb:desmin-related_myopathy
|
autosomal recessive
|
|
gptkb:Citrullinemia_type_II
|
autosomal recessive
|