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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| 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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| altLabel |
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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| 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 | ||
| label |
trichorhinophalangeal syndrome type II
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| prefixIRI |
MONDO:0007874
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| prefLabel |
trichorhinophalangeal syndrome type II
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| textual 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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| disjointWith | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0000426 |
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