Al-gazali syndrome

Preferred Label : Al-gazali syndrome;

Symbol : ALGAZ;

CISMeF acronym : ALGAZ;

Type : Phenotype, molecular basis known;

Prefixed ID : #609465;

Details

Origin ID

609465;

UMLS CUI

C1836121;

Automatic exact mappings (from CISMeF team)
- Eye defects-arachnodactyly-cardiopathy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Al-Gazali Syndrome [MeSH concept]
- Al-Gazali syndrome [MeSH Supplementary Concept]
- Eye defects, arachnodactyly, cardiopathy syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Beta-1,3-galactosyltransferase 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Bowed humerus [HPO term]
- Broad distal phalanx of finger [HPO term]
- Corneal opacity [HPO term]
- Failure to thrive [HPO term]
- Gastrojejunal tube feeding in infancy [HPO term]
- Hydronephrosis [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Osteopenia [HPO term]
- Polyhydramnios [HPO term]
- Proximal radio-ulnar synostosis [HPO term]
- Recurrent fractures [HPO term]
- Recurrent pneumonia [HPO term]
- Sclerocornea [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Eye defects-arachnodactyly-cardiopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Al-Gazali Syndrome [MeSH concept]
- Al-Gazali syndrome [MeSH Supplementary Concept]
- Eye defects, arachnodactyly, cardiopathy syndrome (disorder) [SNOMED CT concept]

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