Details of Disease | DrugMAP

General Information of Disease (ID: DISAACI7)

Disease Name	Craniofacial dysplasia - osteopenia syndrome
Synonyms	hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility; hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility; HMMS; HAMAMY syndrome; Hamamy syndrome
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISYKSRF: Genetic disease DISAACI7: Craniofacial dysplasia - osteopenia syndrome
Disease Identifiers	MONDO ID MONDO_0012634 MESH ID C566988 UMLS CUI C1970027 OMIM ID 611174 MedGen ID 370148 Orphanet ID 314555 SNOMED CT ID 773622005

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
IRX5	OT05J514	Strong	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.