trichorhinophalangeal syndrome type II

Term ID

DOID:4998

Synonyms

• Langer-Giedion syndrome
• Trichorhinophalangeal dysplasia type II
• trichorhinophalangeal syndrome type 2

Definition

A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (5)

References

• GARD:7801
• MESH:D015826
• NCI:C75118
• OMIM:150230
• ORDO:502
• SNOMEDCT_US_2023_03_01:41069008
• UMLS_CUI:C0023003

Ontology

Human Disease   ( DOID:4998 )