Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	TRICHORHINOPHALANGEAL SYNDROME, TYPE II
Synonyms	LGS CHROMOSOME 8q24.1 DELETION SYNDROME TRPS2 LANGER-GIEDION SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/150230
altLabel	LGS CHROMOSOME 8q24.1 DELETION SYNDROME TRPS2 LANGER-GIEDION SYNDROME
cui	C0023003
Gene Locus	8q24.11-q24.13
Gene Symbol	LGCR TRPS2 LGS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017514 http://purl.bioontology.org/ontology/OMIM/MTHU007611 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU016869 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU001218 http://purl.bioontology.org/ontology/OMIM/MTHU017516 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU017508 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU017512 http://purl.bioontology.org/ontology/OMIM/MTHU017511 http://purl.bioontology.org/ontology/OMIM/MTHU017505 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU001626 http://purl.bioontology.org/ontology/OMIM/MTHU012355 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU007900 http://purl.bioontology.org/ontology/OMIM/MTHU017513 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU008529 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU017510 http://purl.bioontology.org/ontology/OMIM/MTHU017509 http://purl.bioontology.org/ontology/OMIM/MTHU003103 http://purl.bioontology.org/ontology/OMIM/MTHU005470 http://purl.bioontology.org/ontology/OMIM/MTHU017506 http://purl.bioontology.org/ontology/OMIM/MTHU017515 http://purl.bioontology.org/ontology/OMIM/MTHU017507 http://purl.bioontology.org/ontology/OMIM/MTHU036896
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	150230
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	TRICHORHINOPHALANGEAL SYNDROME, TYPE II
Scope Statement	Majority of cases sporadic [MISCELLANEOUS] A contiguous gene syndrome caused by loss of functional copies of zinc finger transcription factor TRPS1 (TRPS1, 604386) and exostosin glycosyltransferase 1 (EXT1, 608177) [MOLECULAR BASIS] Male predominance [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10050638	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D015826	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/41069008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00816	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/41069008	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/PG04.	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D015826	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10050638	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003329	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10050638	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X78Am	RCD	CUI
http://purl.obolibrary.org/obo/MONDO_0007874	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_4998	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007874	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007874	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007874	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Trichorhinophalangeal_Syndrome_Type_II	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75118	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C75118	BERO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14745	DERMLEX	LOOM
http://purl.obolibrary.org/obo/DOID_4998	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_4998	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_4998	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_4998	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_4998	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_4998	FNS-H	LOOM