Oculopalatocerebral syndrome

Preferred Label : Oculopalatocerebral syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oculopalatocerebral dwarfism; Opc dwarfism;

Description : Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001).;

Inheritance : Autosomal recessive;

Prefixed ID : %257910;

Details

Origin ID

257910;

UMLS CUI

C1850338;

Automatic exact mappings (from CISMeF team)
- Oculopalatocerebral syndrome [ICD-11 More detail]
- Oculopalatocerebral syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oculo-palato-cerebral syndrome [ORDO Disease]
- oculopalatocerebral syndrome [MeSH concept]
- oculopalatocerebral syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Intellectual disability [HPO term]
- Leukocoria [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Oculo-palato-cerebral syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculo-palato-cerebral syndrome [ORDO Disease]
- Oculopalatocerebral syndrome (disorder) [SNOMED CT concept]
- oculopalatocerebral syndrome [MeSH Supplementary Concept]
- oculopalatocerebral syndrome [MeSH concept]

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