Details of Disease | DrugMAP

General Information of Disease (ID: DISLB5OT)

Disease Name	CODAS syndrome
Synonyms	cerebral, ocular, dental, auricular, and skeletal anomalies syndrome; cerebro-oculo-dento-auriculo-skeletal syndrome; cerebral, ocular, dental, auricular, and skeletal syndrome; cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome
Definition	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1JG9A: Spondyloepiphyseal dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISLB5OT: CODAS syndrome
Disease Identifiers	MONDO ID MONDO_0010879 MESH ID C536434 UMLS CUI C1838180 OMIM ID 600373 MedGen ID 333031 Orphanet ID 1458 SNOMED CT ID 717772000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LONP1	TTM1VPZ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LONP1	OT665WYT	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.