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trichorhinophalangeal syndrome type II

Go to external page http://purl.obolibrary.org/obo/MONDO_0007874

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. [ Orphanet:502 ]

Synonyms: trichorhinophalangeal dysplasia type II monosomy 8q24.1 deletion 8q24.1 trichorhinophalangeal syndrome type 2 Langer-Giedion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:315453775 (https://orcid.org/0000-0002-4142-7153)
  • UMLS:C0023003 (MONDO:equivalentTo)
  • Orphanet:502 (OMIM:150230)
  • OMIM:150230 (Orphanet:502/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • NCIT:C75118 (MONDO:equivalentTo)
  • SCTID:41069008 (MONDO:equivalentTo)
  • NORD:1788 (MONDO:NORD)
  • MEDGEN:6009 (MONDO:equivalentTo)
  • MESH:D015826 (Orphanet:502/e)
  • GARD:7801 (MONDO:GARD)
  • MedDRA:10050638 (Orphanet:502/e)
  • DOID:4998 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__anatomical_joint_disorder, matrix_llm__medical_specialization_member, matrix_llm__tag_existing_treatment_false, matrix_llm__is_glucose_dysfunction_false, nord_rare, matrix_llm__medical_specialization_orthopaedic, matrix_included, matrix_llm__is_glucose_dysfunction_member, matrix_llm__txgnn_mental_health_disorder, matrix_llm__is_pathogen_caused_false, rare, harrisons_view_musculoskeletal_system_disorder, matrix_llm__txgnn_metabolic_disorder, orphanet_rare, matrix_llm__txgnn_inflammatory_disease, matrix_llm__tag_qaly_lost_member, matrix_llm__anatomical_skin_disorder, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder, matrix_llm__tag_qaly_lost_high, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__is_cancer_false, harrisons_view_chromosomal_disorder, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_member, mondo_top_grouping_musculoskeletal_system_disorder, mondo_top_grouping_chromosomal_disorder, matrix_llm__txgnn_autoimmune_diseases, matrix_llm__anatomical_bone_disorder, matrix_txgnn_grouping_other, matrix_llm__txgnn_neurodegenerative_disease, matrix_llm__is_pathogen_caused_member, matrix_llm__medical_specialization_pediatric, matrix_llm__txgnn_member, harrisons_view_member, ordo_malformation_syndrome, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_genetics_and_genomics, matrix_llm__is_cancer_member, matrix_llm__anatomical_member

abbreviation
TRPS2 [ MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10050638

exactMatch

http://purl.obolibrary.org/obo/DOID_4998

http://identifiers.org/snomedct/41069008

http://www.orpha.net/ORDO/Orphanet_502

https://omim.org/entry/150230

http://purl.obolibrary.org/obo/NCIT_C75118

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/315453775

http://identifiers.org/mesh/D015826

http://identifiers.org/medgen/6009

http://linkedlifedata.com/resource/umls/id/C0023003

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

trichorhinophalangeal syndrome, type 2

trichorhinophalangeal syndrome, type II

TRPS 2

chromosome 8Q24.1 deletion syndrome

Giedion-Langer syndrome

TRPS2

Langer Giedion syndrome

id

MONDO:0007874

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4948