OBO ID: DOID:0080734
Term Name: Ehlers-Danlos syndrome kyphoscoliotic type 1 Search Ontology:
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)
OTHER Ehlers-Danlos syndrome kyphoscoliotic type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None