Details of Disease

General Information of Disease (ID: DISWJXWI)

Disease Name	Dwarfism
Synonyms	oculopalatocerebral syndrome; OPC dwarfism; oculopalatocerebral dwarfism; oculo-palato-cerebral dwarfism
Disease Class	5B11: Short stature
Definition	Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
Disease Hierarchy	DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISWJXWI: Dwarfism
ICD Code	ICD-11 ICD-11: 5B11 ICD-10 ICD-10: E34.3 Expand ICD-11 '5B11 Expand ICD-10 'E34.3
Disease Identifiers	MONDO ID MONDO_0009769 MESH ID C564935 UMLS CUI C1850338 OMIM ID 257910 MedGen ID 338025 Orphanet ID 2714 SNOMED CT ID 722055008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
PEG-hGH	DMRVBXI	Phase 2	NA	[1]
Syntropin	DMH76KD	Phase 1	NA	[2]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
GX-H9	DM672YY	Investigative	NA	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

References

1	ClinicalTrials.gov (NCT01247675) A Safety, Pharmacokinetic and Pharmacodynamic Study of ACP-001 (TransCon PEG hGH) in Adults With Growth Hormone Deficiency. U.S. National Institutes of Health.
2	ClinicalTrials.gov (NCT00489294) Safety Study of Syntropin (Human Growth Hormone) for the Treatment of Growth Hormone Deficiency. U.S. National Institutes of Health.
3	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.