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Metadata
DOID DOID:4998
Name trichorhinophalangeal syndrome type II
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.
http://en.wikipedia.org/wiki/Langer-Giedion_syndrome, http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, http://www.healthline.com/galecontent/langer-giedion-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract
Xrefs

MESH:D015826

NCI:C75118

OMIM:150230

SNOMEDCT_US_2018_03_01:41069008

UMLS_CUI:C0023003

Subsets

NCIthesaurus

Synonyms

Langer-Giedion syndrome [EXACT]

Trichorhinophalangeal dysplasia type II [EXACT]

trichorhinophalangeal syndrome type 2 [EXACT]

Relationships

is_a autosomal dominant disease

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