Retinal dystrophy and microvillus inclusion disease

Preferred Label : Retinal dystrophy and microvillus inclusion disease;

Symbol : RDMVID;

Type : Phenotype, molecular basis known;

Prefixed ID : #619446;

Details

Origin ID

619446;

UMLS CUI

C5561943;

Genes related to phenotype
- Syntaxin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Death in infancy [HPO term]
- Global developmental delay [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Osteopenia [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Severely reduced visual acuity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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