gptkb:autoimmune_polyendocrine_syndromes
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autosomal recessive (type 1)
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gptkb:hereditary_hemorrhagic_telangiectasia_type_2
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autosomal dominant
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gptkb:HMSN_type_III
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autosomal recessive
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gptkb:cone-rod_dystrophy
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autosomal recessive
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gptkb:mitochondrial_complex_II_deficiency
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autosomal recessive
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gptkb:X-linked_adrenoleukodystrophy
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X-linked recessive
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gptkb:Glu6Val_in_beta-globin
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autosomal recessive
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gptkb:glucocerebrosidase_deficiency
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autosomal recessive
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gptkb:leukocyte_adhesion_deficiency_type_1
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autosomal recessive
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gptkb:hyperinsulinism-hyperammonemia_syndrome
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autosomal dominant
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gptkb:Fanconi_anemia_type_N
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autosomal recessive
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gptkb:OMIM:160790
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autosomal recessive
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gptkb:FMR1_gene
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X-linked dominant
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gptkb:ORPHA:404989
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autosomal dominant
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gptkb:alternating_hemiplegia_of_childhood
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sporadic
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gptkb:neurofibromatosis_type_I
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autosomal dominant
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gptkb:Lysosomal_storage_disease
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X-linked recessive
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gptkb:Hemoglobin_S
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autosomal recessive
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gptkb:hemoglobin_SC_disease
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autosomal recessive
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gptkb:Charcot-Marie-Tooth_disease_type_1A
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autosomal dominant
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