ZFIN Human Disease: trichorhinophalangeal syndrome type II

OBO ID: DOID:4998

Term Name:	trichorhinophalangeal syndrome type II		Search Ontology:
Synonyms:	Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2
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. (5)
References:	GARD:7801 MESH:D015826 NCI:C75118 OMIM:150230 ORDO:502 SNOMEDCT_US_2023_03_01:41069008 UMLS_CUI:C0023003
Ontology:	Human Disease ( DOID:4998 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None