ZFIN Human Disease: CODAS syndrome

OBO ID: DOID:0111274

Term Name:	CODAS syndrome		Search Ontology:
Synonyms:	cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome
Definition:	A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/25574826
References:	GARD:1418 MESH:C536434 NCI:C126744 OMIM:600373 ORDO:1458 SNOMEDCT_US_2023_03_01:717772000 UMLS_CUI:C1838180
Ontology:	Human Disease ( DOID:0111274 )

Relationships

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

OTHER CODAS syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LONP1	lonp1	CODAS syndrome	600373

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None