X-linked intellectual disability with hypopituitarism
http://purl.obolibrary.org/obo/MONDO_0100195
An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. [ https://clinicalgenome.org/affiliation/40006/ PMID:24450934 ]
Term info
https://github.com/monarch-initiative/mondo/issues/5588
https://orcid.org/0000-0001-5208-3432
An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.
http://purl.obolibrary.org/obo/MONDO_0000508
MONDO:0100195