ZFIN Human Disease: Ehlers-Danlos syndrome periodontal type 1

OBO ID: DOID:0080986

Term Name:	Ehlers-Danlos syndrome periodontal type 1		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/27745832/
References:	GARD:12474 OMIM:130080 ORDO:75392
Ontology:	Human Disease ( DOID:0080986 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C1R	c1r	Ehlers-Danlos syndrome, periodontal type, 1	130080

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None