ZFIN Human Disease: Ehlers-Danlos syndrome periodontal type 2

OBO ID: DOID:0080987

OBO ID: DOID:0080987

Term Name:	Ehlers-Danlos syndrome periodontal type 2	Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/27745832/
References:	GARD:12474 OMIM:617174 ORDO:75392
Ontology:	Human Disease ( DOID:0080987 )

Relationships

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

OTHER Ehlers-Danlos syndrome periodontal type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C1S	c1s.1	Ehlers-Danlos syndrome, periodontal type, 2	617174

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None