FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CODAS syndrome ID (Ontology) DOID:0111274 (Human Disease)
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.
Also Known As "cerebral, ocular, dental, auricular, and skeletal syndrome" ; "cerebro-oculo-dento-auriculo-skeletal syndrome"
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 CODAS syndrome       2      2      1
 ameliorates | CODAS syndrome       1       --       --
 for disease ribbon | CODAS syndrome       --       1       --
 model of | CODAS syndrome       1      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 CODAS syndrome  5 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cerebral, ocular, dental, auricular, and skeletal syndrome" EXACT
    "cerebro-oculo-dento-auriculo-skeletal syndrome" EXACT
Secondary IDs
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GARD:1418
MESH:C536434
MIM:600373
NCI:C126744
ORDO:1458
SNOMEDCT_US_2023_03_01:717772000
UMLS_CUI:C1838180