Search Ontology:
Human Disease

Ehlers-Danlos syndrome kyphoscoliotic type 1

Term ID
DOID:0080734
Synonyms
Definition
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/28306229/
References
Ontology
Human Disease   ( DOID:0080734 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models