loading...| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4998 |
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| 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 OMIM:150230 GARD:7801 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]. |
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| disease has location | ||
| has exact synonym |
Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome |
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:4998 |
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| 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]. |
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| preferred label |
trichorhinophalangeal syndrome type II |
|
| prefLabel |
trichorhinophalangeal syndrome type II |
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| subClassOf |