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Disease

Bent bone dysplasia syndrome 1

Also known as FGFR2-related bent bone dysplasia, perinatal lethal bent bone dysplasia, BBDS, bent bone dysplasia (BBD)-FGFR2 type+1 more

FGFR2-related bent bone dysplasia, perinatal lethal bent bone dysplasia, BBDS, bent bone dysplasia (BBD)-FGFR2 type, bent bone dysplasia syndrome.

1
Associated genes
1
Related proteins

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Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

FGFR20.78

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Fibroblast growth factor receptor 2via FGFR20.78

Reference

Authoritative identity, definition & identifiers.

Synonyms

FGFR2-related bent bone dysplasia, perinatal lethal bent bone dysplasia, BBDS, bent bone dysplasia (BBD)-FGFR2 type, bent bone dysplasia syndrome

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.