Link to this page
Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
Jump to:
| Preferred Name | trichorhinophalangeal syndrome type II | |
| Synonyms |
Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_4998 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome
|
|
| database_cross_reference |
UMLS_CUI:C0023003 SNOMEDCT_US_2023_03_01:41069008 MESH:D015826 GARD:7801 MIM:150230 NCI:C75118 ORDO:502
|
|
| 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. OMIM mapping confirmed by DO. [SN].
|
|
| disease has location | ||
| has exact synonym |
Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome
|
|
| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:4998
|
|
| in_subset | ||
| label |
trichorhinophalangeal syndrome type II
|
|
| notation |
DOID:4998
|
|
| note |
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. OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
trichorhinophalangeal syndrome type II
|
|
| prefLabel |
trichorhinophalangeal syndrome type II
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping