cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation

Preferred Label : cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0563690;

UMLS CUI

C1832812;

Currated CISMeF NLP mapping
- Ayme-Gripp syndrome [DO Concept]
- Ayme-gripp syndrome [OMIM Phenotype]
Related record
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ayme-Gripp syndrome [DO Concept]
- Ayme-gripp syndrome [OMIM Phenotype]

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