FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Ehlers-Danlos syndrome musculocontractural type 1 ID (Ontology) DOID:0080736 (Human Disease)
Definition An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
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 Ehlers-Danlos syndrome musculocontractural type 1       2
 for disease ribbon | Ehlers-Danlos syndrome musculocontractural type 1       2
 model of | Ehlers-Danlos syndrome musculocontractural type 1       2
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autosomal genetic disease
 |__autosomal recessive disease__
collagen disease                 |
 |__Ehlers-Danlos syndrome_______|
                                 Ehlers-Danlos syndrome musculocontractural type 1  2 rec.
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Is a autosomal recessive disease
Ehlers-Danlos syndrome
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MIM:601776