Search Ontology:
Human Disease
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
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- GARD:7801
- MESH:D015826
- MIM:150230
- NCI:C75118
- ORDO:502
- SNOMEDCT_US_2023_03_01:41069008
- UMLS_CUI:C0023003
- Ontology
- Human Disease ( DOID:4998 )
- is a type of
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