| Metadata | |
|---|---|
| ID | DOID:4998 |
| Name | trichorhinophalangeal syndrome type II |
| 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. http://www.healthline.com/galecontent/langer-giedion-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, http://en.wikipedia.org/wiki/Langer-Giedion_syndrome, http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:41069008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Langer-Giedion syndrome [EXACT] Trichorhinophalangeal dysplasia type II [EXACT] trichorhinophalangeal syndrome type 2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has symptom some short stature has material basis in some autosomal dominant inheritance disease has location some epiphysis |