# Simpson-Golabi-Behmel syndrome

> X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

**Wikidata**: [Q478891](https://www.wikidata.org/wiki/Q478891)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Simpson–Golabi–Behmel_syndrome)  
**Source**: https://4ort.xyz/entity/simpson-golabi-behmel-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5b8b02d6-1d60-4b4c-bb8a-b976907087c7--2019-12-31T17:54:22)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b8b02d6-1d60-4b4c-bb8a-b976907087c7-2019-12-31T175422.159Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147257/MONDO_0010731)
9. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. UMLS 2023