Brittle cornea syndrome 2

Preferred Label : Brittle cornea syndrome 2;

Symbol : BCS2;

CISMeF acronym : BCS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PR-domain containing protein-5 gene (PRDM5, 614161.0001);

Prefixed ID : #614170;

Details

Origin ID

614170;

UMLS CUI

C3280011;

Automatic exact mappings (from CISMeF team)
- PRDM5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- brittle cornea syndrome 2 [DO Concept]
DO Cross reference
- brittle cornea syndrome 2 [DO Concept]
Genes related to phenotype
- Pr domain-containing protein 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Decreased corneal thickness [HPO term]
- Flat cornea [HPO term]
- Gait disturbance [HPO term]
- Hearing impairment [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Keratoconus [HPO term]
- Keratoglobus [HPO term]
- Megalocornea [HPO term]
- Myalgia [HPO term]
- Myopia [HPO term]
- Recurrent fractures [HPO term]
- Sclerocornea [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Brittle cornea syndrome [ORDO Disease]
See also inter- (CISMeF)
- brittle cornea syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Brittle cornea syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients