ZFIN Human Disease: Ehlers-Danlos syndrome kyphoscoliotic type 1

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:	OMIM:225400
Ontology:	Human Disease ( DOID:0080734 )

Relationships

is a type of:	autosomal recessive disease Ehlers-Danlos syndrome autosomal recessive disease Ehlers-Danlos syndrome Show first 5 Terms

OTHER Ehlers-Danlos syndrome kyphoscoliotic type 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PLOD1	plod1a plod1b	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	225400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None