Osteogenesis imperfecta, type XVI

Preferred Label : Osteogenesis imperfecta, type XVI;

Symbol : OI16;

CISMeF acronym : OI16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type XVI;

Included titles and symbols : Chromosome 11p11.2 deletion syndrome, 91.3-kb;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cAMP response element-binding protein 3-like 1 gene (CREB3L1, 616215.0001);

Prefixed ID : #616229;

Details

Origin ID

616229;

UMLS CUI

C4015610;

CISMeF manual mappings
- osteogenesis imperfecta type 16 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 16 [DO Concept]
Genes related to phenotype
- Camp response element-binding protein 3-like 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Beaded ribs [HPO term]
- Blue sclerae [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Hearing impairment [HPO term]
- Joint hypermobility [HPO term]
- Mesomelia [HPO term]
- Osteopenia [HPO term]
- Rhizomelia [HPO term]
- Small for gestational age [HPO term]
- Tooth agenesis [HPO term]
- Vertebral compression fracture [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 16 [DO Concept]

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