Microphthalmia, syndromic 2

Preferred Label : Microphthalmia, syndromic 2;

Symbol : MCOPS2;

CISMeF acronym : MCOPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia, cataracts, radiculomegaly, and septal heart defects; Ofcd syndrome; Maa2; Oculofaciocardiodental syndrome; Anop2;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the BCL6 corepressor gene (BCOR, 300485.0001);

Prefixed ID : #300166;

Détails

Origin ID

300166;

UMLS CUI

C1846265;

Automatic exact mappings (from CISMeF team)
- BCOR wt Allele [NCIt concept]
- Oculo-facio-cardio-dental syndrome [ICD-11 More detail]
- syndromic microphthalmia 2 [DO Concept]
Currated CISMeF NLP mapping
- Microphthalmia, syndromic 2 [MeSH concept]
- Oculofaciocardiodental syndrome [ORDO Disease]
- Oculofaciocardiodental syndrome (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 2 [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 2 [DO Concept]
Genes related to phenotype
- Bcl6 corepressor [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- 2-3 toe syndactyly [HPO term]
- Adrenal insufficiency [HPO term]
- Anophthalmia [HPO term]
- Anteverted ears [HPO term]
- Aortic valve stenosis [HPO term]
- Asymmetry of the ears [HPO term]
- Atrial septal defect [HPO term]
- Bifid nasal tip [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Broad hallux [HPO term]
- Broad nasal tip [HPO term]
- Contracture of the proximal interphalangeal joint of the 2nd toe [HPO term]
- Contracture of the proximal interphalangeal joint of the 3rd toe [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased body weight [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Developmental cataract [HPO term]
- Dextrocardia [HPO term]
- Double outlet right ventricle [HPO term]
- Exotropia [HPO term]
- Flexion contracture [HPO term]
- Fused teeth [HPO term]
- Glaucoma [HPO term]
- Hammertoe [HPO term]
- Hand clenching [HPO term]
- High nasal bridge [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic aortic arch [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability, mild [HPO term]
- Iris coloboma [HPO term]
- Laterally curved eyebrow [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Long, narrow facies [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Narrow face [HPO term]
- Oligodontia [HPO term]
- Patent ductus arteriosus [HPO term]
- Persistence of primary teeth [HPO term]
- Phthisis bulbi [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Radiculomegaly [HPO term]
- Radioulnar synostosis [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Retinal detachment [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Septate vagina [HPO term]
- Short stature [HPO term]
- Spastic paraparesis [HPO term]
- Submucous cleft hard palate [HPO term]
- Supernumerary tooth [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Visual loss [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Microphthalmia, Lenz type [ORDO Disease]
- Oculofaciocardiodental syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia, syndromic 2 [MeSH concept]
- Oculo facio cardio dental syndrome [PASCAL descriptor]
- Oculofaciocardiodental syndrome [ORDO Disease]
- Oculofaciocardiodental syndrome (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 2 [MeSH Supplementary Concept]
- syndromic microphthalmia 2 [DO Concept]

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