Microphthalmia, syndromic 12

Preferred Label : Microphthalmia, syndromic 12;

Symbol : MCOPS12;

CISMeF acronym : MCOPS12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the beta retinoic acid receptor (RARB, 180220.0001);

Prefixed ID : #615524;

Details

Origin ID

615524;

UMLS CUI

C3809803;

Automatic exact mappings (from CISMeF team)
- syndromic microphthalmia 12 [DO Concept]
DO Cross reference
- syndromic microphthalmia 12 [DO Concept]
Genes related to phenotype
- Retinoic acid receptor, beta [OMIM gene]
HPO term(s)
- Anophthalmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Broad nasal tip [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Hypoplastic left atrium [HPO term]
- Intellectual disability [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Pulmonary hypoplasia [HPO term]
- Retrognathia [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Matthew-Wood syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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