X-linked intellectual disability with hypopituitarism

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/ http://www.ncbi.nlm.nih.gov/pubmed/24450934 ]

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Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

Subsets

gard_rare, rare, nord_rare

creator

https://orcid.org/0000-0001-5208-3432

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

MONDO:0100195

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

Term relations

Equivalent to:

syndromic intellectual disability and disease has major feature some hypopituitarism

Subclass of:

X-linked syndromic intellectual disability
disease has major feature some hypopituitarism