FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Ehlers-Danlos syndrome kyphoscoliotic type 2 ID (Ontology) DOID:0080735 (Human Disease)
Definition An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
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 Ehlers-Danlos syndrome kyphoscoliotic type 2       1
 for disease ribbon | Ehlers-Danlos syndrome kyphoscoliotic type 2       1
 model of | Ehlers-Danlos syndrome kyphoscoliotic type 2       1
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autosomal genetic disease
 |__autosomal recessive disease__
collagen disease                 |
 |__Ehlers-Danlos syndrome_______|
                                 Ehlers-Danlos syndrome kyphoscoliotic type 2  1 rec.
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Is a autosomal recessive disease
Ehlers-Danlos syndrome
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MIM:614557