Oculoauricular syndrome

Preferred Label : Oculoauricular syndrome;

Symbol : OCACS;

CISMeF acronym : OCACS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Schorderet-munier-franceschetti syndrome; Microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homeobox (H6 family) 1 gene (HMX1, 142992.0001);

Prefixed ID : #612109;

Détails

Origin ID

612109;

UMLS CUI

C2677500;

Currated CISMeF NLP mapping
- Oculoauricular syndrome Schorderet type (disorder) [SNOMED CT concept]
- Oculoauricular syndrome, Schorderet type [ORDO Disease]
- oculoauricular syndrome [DO Concept]
- oculoauricular syndrome [MeSH concept]
- oculoauricular syndrome [MeSH Supplementary Concept]
DO Cross reference
- oculoauricular syndrome [DO Concept]
Genes related to phenotype
- H6 family homeobox 1 [OMIM gene]
HPO term(s)
- Absent earlobe [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Chorioretinal atrophy [HPO term]
- Chorioretinal coloboma [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Congenital nystagmus [HPO term]
- Developmental cataract [HPO term]
- Exodeviation [HPO term]
- Horizontal nystagmus [HPO term]
- Iris coloboma [HPO term]
- Iris cyst [HPO term]
- Low-set ears [HPO term]
- Macular hypoplasia [HPO term]
- Microcornea [HPO term]
- Microphakia [HPO term]
- Microphthalmia [HPO term]
- Morning glory anomaly [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Nystagmus [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Ocular hypertension [HPO term]
- Phthisis bulbi [HPO term]
- Posterior embryotoxon [HPO term]
- Posterior synechiae of the anterior chamber [HPO term]
- Retinal coloboma [HPO term]
- Retinal detachment [HPO term]
- Rod-cone dystrophy [HPO term]
- Sclerocornea [HPO term]
- Short mandibular rami [HPO term]
- Spina bifida occulta [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Ultra-low vision with retained light perception [HPO term]
ORDO concept(s)
- Oculoauricular syndrome, Schorderet type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculoauricular syndrome, Schorderet type [ORDO Disease]
- oculoauricular syndrome [MeSH Supplementary Concept]
- oculoauricular syndrome [MeSH concept]
- oculoauricular syndrome [DO Concept]

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

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