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Mondo Disease Ontology
| Preferred Name | trichorhinophalangeal syndrome type II | |
| Synonyms |
TRPS 2 chromosome 8Q24.1 deletion syndrome trichorhinophalangeal syndrome, type II TRPS2 trichorhinophalangeal syndrome, type 2 Giedion-Langer syndrome Langer Giedion syndrome monosomy 8q24.1 Langer-Giedion syndrome deletion 8q24.1 trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 |
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| Definitions |
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007874 |
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| database_cross_reference |
SCTID:41069008 DOID:4998 OMIM:150230 MESH:D015826 NCIT:C75118 GARD:7801 MedDRA:10050638 NORD:1788 Orphanet:502 MEDGEN:6009 ICD9:759.89 icd11.foundation:315453775 UMLS:C0023003
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|
| definition |
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
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|
| has_exact_synonym |
monosomy 8q24.1 Langer-Giedion syndrome deletion 8q24.1 trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2
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| has_related_synonym |
TRPS 2 chromosome 8Q24.1 deletion syndrome trichorhinophalangeal syndrome, type II TRPS2 trichorhinophalangeal syndrome, type 2 Giedion-Langer syndrome Langer Giedion syndrome
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| IAO_0000233 | ||
| id |
MONDO:0007874
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
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| label |
trichorhinophalangeal syndrome type II
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|
| notation |
MONDO:0007874
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|
| prefLabel |
trichorhinophalangeal syndrome type II
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/41069008 http://purl.obolibrary.org/obo/NCIT_C75118 http://identifiers.org/medgen/6009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/315453775 http://purl.obolibrary.org/obo/DOID_4998 http://linkedlifedata.com/resource/umls/id/C0023003 http://identifiers.org/mesh/D015826 |
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| treeView |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0000426 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0000426 |
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