ZFIN Human Disease: Ehlers-Danlos syndrome classic-like 2

OBO ID: DOID:0080732

Term Name:	Ehlers-Danlos syndrome classic-like 2		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	OMIM:618000
Ontology:	Human Disease ( DOID:0080732 )

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 classic-like 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AEBP1	aebp1a aebp1b	Ehlers-Danlos syndrome, classic-like, 2	618000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None