Details of Disease | DrugMAP

General Information of Disease (ID: DIS6IX4H)

Disease Name	Acromesomelic dysplasia 3
Synonyms	chondrodysplasia acromesomelic with genital anomalies; acromesomelic dysplasia 3; AMDD; acromesomelic dysplasia, Demirhan type; chondrodysplasia, acromesomelic, with or without genital anomalies
Disease Hierarchy	DISR3TMZ: Acromesomelic dysplasia DIS6IX4H: Acromesomelic dysplasia 3
Disease Identifiers	MONDO ID MONDO_0012274 UMLS CUI C4225404 OMIM ID 609441 MedGen ID 904735

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
BMPR1B	OTGFN0OD	Strong	Autosomal recessive	[1]
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References

1	Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1.