TRICHORHINOPHALANGEAL SYNDROME, TYPE II

LGS

CHROMOSOME 8q24.1 DELETION SYNDROME

TRPS2

LANGER-GIEDION SYNDROME

http://purl.bioontology.org/ontology/OMIM/150230

LGS

CHROMOSOME 8q24.1 DELETION SYNDROME

TRPS2

LANGER-GIEDION SYNDROME

C0023003

8q24.11-q24.13

LGCR

TRPS2

LGS

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

Phenotype description, molecular basis known.

150230

3

pound

TRICHORHINOPHALANGEAL SYNDROME, TYPE II

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]

T047