JSON

metaphyseal chondrodysplasia, Jansen type

Go to external page http://purl.obolibrary.org/obo/MONDO_0007982

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. [ Orphanet:33067 ]

Synonyms: metaphyseal chondrodysplasia, murk Jansen type metaphyseal chondrodysplasia murk Jansen type murk Jansen type metaphyseal chondrodysplasia metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia Jansen disease Jansen metaphyseal dysostosis Jansen Type Metaphyseal Chondrodysplasia Jansen metaphyseal chondrodysplasia Jansen type metaphyseal chondrodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:33067 (OMIM:156400)
  • icd11.foundation:1652660420 (MONDO:equivalentTo)
  • MEDGEN:120529 (MONDO:equivalentTo)
  • UMLS:C0265295 (MONDO:equivalentTo)
  • SCTID:24629003 (MONDO:equivalentTo)
  • GARD:79 (MONDO:GARD)
  • MESH:C537564 (Orphanet:33067/e)
  • DOID:0080020 (MONDO:equivalentTo)
  • OMIM:156400 (Orphanet:33067/e)
  • NORD:1307 (MONDO:NORD)
  • NCIT:C131868 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

exactMatch

http://purl.obolibrary.org/obo/DOID_0080020

http://identifiers.org/snomedct/24629003

https://omim.org/entry/156400

http://identifiers.org/mesh/C537564

http://www.orpha.net/ORDO/Orphanet_33067

http://purl.obolibrary.org/obo/NCIT_C131868

http://identifiers.org/medgen/120529

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1652660420

http://linkedlifedata.com/resource/umls/id/C0265295

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0009943

id

MONDO:0007982

term tracker item

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

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