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Last uploaded: January 31, 2024

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Preferred Name	Langer-Giedion Syndrome
Synonyms	Syndrome, Langer-Giedion Trichorhinophalangeal Syndrome Type 2 Tricho Rhino Phalangeal Syndrome Type II Giedion Langer Syndrome Acrodysplasia V Syndrome, Giedion-Langer Giedion-Langer Syndrome Langer Giedion Syndrome Trichorhinophalangeal Syndrome with Exostoses TRPSII Trichorhinophalangeal Syndrome Type II Tricho-Rhino-Phalangeal Syndrome Type II Trichorhinophalangeal Syndrome, Type II Acrodysplasia Vs
Definitions	Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
ID	http://purl.bioontology.org/ontology/MESH/D015826
altLabel	Syndrome, Langer-Giedion Trichorhinophalangeal Syndrome Type 2 Tricho Rhino Phalangeal Syndrome Type II Giedion Langer Syndrome Acrodysplasia V Syndrome, Giedion-Langer Giedion-Langer Syndrome Langer Giedion Syndrome Trichorhinophalangeal Syndrome with Exostoses TRPSII Trichorhinophalangeal Syndrome Type II Tricho-Rhino-Phalangeal Syndrome Type II Trichorhinophalangeal Syndrome, Type II Acrodysplasia Vs
AN	an osteochondrodysplasia
AQL	BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0023003
DC	1
definition	Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
DX	19900101
HN	90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
Mapped from	http://purl.bioontology.org/ontology/MESH/C536820
MDA	19890515
MMR	20130708
MN	C05.116.099.708.582
notation	D015826
OL	use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89
prefLabel	Langer-Giedion Syndrome
TERMUI	T046932 T046933 T844312 T824576 T844310 T844311 T046934 T046935 T046936
TH	OMIM (2013) NLM (1990) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D010009

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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/MDRFRE/10050638	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003329	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/150230	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10050638	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X78Am	RCD	CUI
http://www.orpha.net/ORDO/Orphanet_502	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_4998	CLO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_526	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_502	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_502	HSPO	LOOM
http://id.nlm.nih.gov/mesh/D015826	MDM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036730	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/41069008	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00816	SNMI	LOOM
http://purl.jp/bio/4/id/200906097304343990	IOBC	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023003	OCHV	LOOM
http://purl.obolibrary.org/obo/OMIT_0016466	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015826	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.582	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4998	NATPRO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ33900	RCTV2	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050638	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7200	OCHV	LOOM