Codas syndrome

Preferred Label : Codas syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial Lon peptidase-1 gene (LONP1, 605490.0001);

Prefixed ID : #600373;

Détails

Origin ID

600373;

UMLS CUI

C1838180;

Automatic exact mappings (from CISMeF team)
- CODAS syndrome [DO Concept]
Currated CISMeF NLP mapping
- CODAS syndrome [MeSH concept]
- CODAS syndrome [MeSH Supplementary Concept]
- CODAS syndrome [ORDO Disease]
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) [SNOMED CT concept]
- Codas Syndrome [NCIt concept]
DO Cross reference
- CODAS syndrome [DO Concept]
Genes related to phenotype
- Lon peptidase 1, mitochondrial [OMIM gene]
HPO term(s)
- Absent epiphyses [HPO term]
- Anal atresia [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad skull [HPO term]
- Cataract [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Coronal cleft vertebrae [HPO term]
- Crumpled ear [HPO term]
- Cryptorchidism [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Enamel hypoplasia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Generalized joint laxity [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Lumbar scoliosis [HPO term]
- Metaphyseal dysplasia [HPO term]
- Motor delay [HPO term]
- Omphalocele [HPO term]
- Pes valgus [HPO term]
- Polyhydramnios [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Rectovaginal fistula [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Squared iliac bones [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vocal cord paresis [HPO term]
ORDO concept(s)
- CODAS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CODAS syndrome [ORDO Disease]
- CODAS syndrome [MeSH Supplementary Concept]
- CODAS syndrome [MeSH concept]
- CODAS syndrome [DO Concept]
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) [SNOMED CT concept]
- Codas Syndrome [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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