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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Langer-Giedion Syndrome | |
| Synonyms |
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| Definitions |
An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036730 |
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| Database_Cross_Reference |
RCD:X78Am SNOMEDCT_US:41069008 MTH:NOCODE OMIM:150230 NDFRT:N0000003329 MDR:10050638 CHV:0000007200 SNMI:D4-00816 RCD:PG04. SNM:D-5128 MSH:D015826 NCI:C75118 SNOMEDCT_US:239017000 JABL:635 DO:DOID:4998
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| Definition |
An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
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| label |
Langer-Giedion Syndrome
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| MCID |
MC00007356
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| PMOID |
PMO:00036730
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| prefixIRI |
pmo:PMO_00036730
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| prefLabel |
Langer-Giedion Syndrome
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| Synonym |
trichorhinophalangeal (TRP) syndrome 2 (TRPS2) multiple exostoses-mental retardation syndrome trichorhinophalangeal syndrome type II Trichorhinophalangeal dysplasia type II (disorder) Syndrome, Langer-Giedion Tricho Rhino Phalangeal Syndrome Type II Trichorhinophalangeal syndrome II Acrodysplasia V Giedion Langer Syndrome Trichorhinophalangeal syndrome with exostosis LANGER-GIEDION SYNDROME Trichorhinophalangeal Syndrome Type II langer-giedion syndrome trichorhino-auriculophalangeal multiple exostoses dysplasia Trichorhinophal dysp type II TRPS2 Ale-Calo syndrome Langer-Giedion syndrome (disorder) Trichorhinophalangeal Syndrome, Type II Langer Giedion Syndrome Trichorhinophalangeal dysplasia type II Giedion-Langer Syndrome giedion langer syndrome TRICHORHINOPHALANGEAL SYNDROME, TYPE II CHROMOSOME 8q24.1 DELETION SYNDROME Langer-Giedion syndrome Tricho-Rhino-Phalangeal Syndrome Type II Trigorhinophalangeal dysplasia trichorhinophalangeal dysplasia 2 TRPSE TRPSII LGS langer giedion syndrome trichorhinophalangeal syndrome 2 Acrodysplasia Vs multiple exostoses-mental retardation (MEMR) syndrome Syndrome, Giedion-Langer Trichorhinophalangeal syndr II trichorhino-auriculophalangeal multiple exostoses (TRAMPE) dysplasia TRPS II - Trichorhinophal II Langer-Giedion Syndrome [Disease/Finding] TRPS II - Trichorhinophalangeal syndrome II acrodysplasia-dysostoses syndrome Langer-Giedion type of trichorhinophalangeal syndrome Trichorhinophalangeal Syndrome with Exostoses Trichorhinophalangeal Syndrome Type 2
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| Tree Number |
T9.3.9.22.13.15 T9.8.4.19.15
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