Microphthalmia, syndromic 6

Preferred Label : Microphthalmia, syndromic 6;

Symbol : MCOPS6;

CISMeF acronym : MCOPS6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia with brain and digit developmental anomalies; Anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia; Microphthalmia and pituitary anomalies;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bone morphogenetic protein 4 (BMP4, 112262.0001);

Prefixed ID : #607932;

Details

Origin ID

607932;

UMLS CUI

C1864689;

Automatic exact mappings (from CISMeF team)
- Bakrania-Ragge syndrome [ICD-11 More detail]
- syndromic microphthalmia 6 [DO Concept]
Currated CISMeF NLP mapping
- Microphthalmia with brain and digit anomalies [ORDO Disease]
- Microphthalmia with brain and digit anomaly (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 6 [MeSH concept]
- microphthalmia, syndromic 6 [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 6 [DO Concept]
False automatic mappings
- BMP4 wt Allele [NCIt concept]
Genes related to phenotype
- Bone morphogenetic protein 4 [OMIM gene]
HPO term(s)
- Abnormality of the hand [HPO term]
- Abnormality of the hypothalamus-pituitary axis [HPO term]
- Absent speech [HPO term]
- Adrenal hypoplasia [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Anterior hypopituitarism [HPO term]
- Aplasia of the optic tract [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Blindness [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coloboma [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Delayed CNS myelination [HPO term]
- Facial asymmetry [HPO term]
- Failure to thrive [HPO term]
- Female hypogonadism [HPO term]
- Finger syndactyly [HPO term]
- Flexion contracture of thumb [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Orbital cyst [HPO term]
- Plagiocephaly [HPO term]
- Polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Psychomotor retardation [HPO term]
- Renal hypoplasia [HPO term]
- Retinal dystrophy [HPO term]
- Retrognathia [HPO term]
- Sclerocornea [HPO term]
- Severe muscular hypotonia [HPO term]
- Short middle phalanx of finger [HPO term]
- Single transverse palmar crease [HPO term]
- Small scrotum [HPO term]
- Small scrotum [HPO term]
- Small sella turcica [HPO term]
- Toe syndactyly [HPO term]
- Uplifted earlobe [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Microphthalmia with brain and digit anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia with brain and digit anomalies [ORDO Disease]
- Microphthalmia with brain and digit anomaly (disorder) [SNOMED CT concept]
- microphthalmia, syndromic 6 [MeSH Supplementary Concept]
- microphthalmia, syndromic 6 [MeSH concept]
- syndromic microphthalmia 6 [DO Concept]

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