Details of Disease

General Information of Disease (ID: DIS74JVT)

• Disease Name: Obsolete trichorhinophalangeal syndrome type I or III
• Synonyms: trichorhinophalangeal syndrome type 1 and 3
• Definition: OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DIS74JVT: Obsolete trichorhinophalangeal syndrome type I or III

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPS1	OT7XPPEL	Supportive	Autosomal dominant	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.