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Drug Target Ontology
Last uploaded:
February 15, 2018
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| Preferred Name | trichorhinophalangeal syndrome type II | |
| Synonyms |
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| Definitions |
An autosomal dominant disease 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].
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| definition |
An autosomal dominant disease 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.
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| hasDbXref |
SNOMEDCT_US_2016_03_01:41069008 OMIM:150230 MESH:D015826 UMLS_CUI:C0023003 SNOMEDCT_US_2016_03_01:239017000 NCI:C75118
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| hasExactSynonym |
Trichorhinophalangeal dysplasia type II Langer-Giedion syndrome
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| hasOBONamespace |
disease_ontology
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| id |
DOID:4998
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| imported from | ||
| label |
trichorhinophalangeal syndrome type II
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| prefixIRI |
DOID:4998
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| prefLabel |
trichorhinophalangeal syndrome type II
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| subClassOf |
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