Visual impairment and progressive phthisis bulbi

Preferred Label : Visual impairment and progressive phthisis bulbi;

Symbol : VIPB;

CISMeF acronym : VIPB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MAP/microtubule affinity-regulating kinase-3 gene (MARK3, 602678.0001);

Prefixed ID : #618283;

Details

Origin ID

618283;

UMLS CUI

C4748978;

Automatic exact mappings (from CISMeF team)
- MARK3 wt Allele [NCIt concept]
- VIP-B Regimen [NCIt concept]
- visual impairment and progressive phthisis bulbi [DO Concept]
DO Cross reference
- visual impairment and progressive phthisis bulbi [DO Concept]
Genes related to phenotype
- Map/microtubule affinity-regulating kinase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Flat cornea [HPO term]
- Hypermetropia [HPO term]
- Phthisis bulbi [HPO term]
- Ptosis [HPO term]
- Reduced visual acuity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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