Gombo syndrome

Preferred Label : Gombo syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia;

Inheritance : Autosomal recessive;

Prefixed ID : 233270;

Details

Origin ID

233270;

UMLS CUI

C1856274;

Currated CISMeF NLP mapping
- GOMBO syndrome [MeSH concept]
- GOMBO syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Delayed pubertal growth [HPO term]
- Delayed puberty [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Radial deviation of finger [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GOMBO syndrome [MeSH Supplementary Concept]
- GOMBO syndrome [MeSH concept]

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