Details of Disease | DrugMAP

General Information of Disease (ID: DISCS189)

Disease Name	Autosomal recessive brachyolmia
Synonyms	brachyolmia, Hobaek/Toledo type; brachyolmia, autosomal recessive
Definition	Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISK6FWF: Brachyolmia DISCS189: Autosomal recessive brachyolmia
Disease Identifiers	MONDO ID MONDO_0018662 UMLS CUI C4760908 MedGen ID 1675807 Orphanet ID 448242 SNOMED CT ID 783789002

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
PAPSS2	OTDLEXPN	Supportive	Autosomal recessive	[1]
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References

1	PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.