Details of Disease | DrugMAP

General Information of Disease (ID: DIS124N3)

Disease Name	Intellectual disability, X-linked, with panhypopituitarism
Synonyms	mental retardation, X-linked, with panhypopituitarism; intellectual disability, X-linked, with isolated Growth hormone deficiency; mental retardation, X-linked, with isolated Growth hormone deficiency; intellectual developmental disorder, X-linked, with isolated growth hormone deficiency; intellectual disability, X-linked, with panhypopituitarism
Disease Hierarchy	DISVG1JZ: X-linked intellectual disability with hypopituitarism DIS124N3: Intellectual disability, X-linked, with panhypopituitarism
Disease Identifiers	MONDO ID MONDO_0010252 MESH ID C567485 UMLS CUI C2678223 OMIM ID 300123 MedGen ID 394771

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX3	OT1CRCOB	Definitive	X-linked recessive	[1]
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References

1	Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q.