microphthalmia, syndromic 6

Preferred Label : microphthalmia, syndromic 6;

MeSH synonym : microphthalmia and pituitary anomalies; MCOPS6; anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia; microphthalmia with brain and digit developmental anomalies;

Details

Origin ID

C566440;

UMLS CUI

C1864689;

Currated CISMeF NLP mapping
- Microphthalmia with brain and digit anomalies [ORDO Disease]
- Microphthalmia, syndromic 6 [OMIM Phenotype]
DO Cross reference
- syndromic microphthalmia 6 [DO Concept]
False automatic mappings
- BMP4 wt Allele [NCIt concept]
MeSH term(s) associated for indexing
- limb deformities, congenital [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
- nervous system malformations [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- microphthalmia, syndromic 6 [MeSH concept]
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 [OMIM Phenotype]
- syndromic microphthalmia 6 [DO Concept]

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