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macrocephaly-short stature-paraplegia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016571

Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. [ Orphanet:2427 ]

Synonyms: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations Volcke Soekarman syndrome Volcke-Soekarman syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:172 (MONDO:GARD)
  • Orphanet:2427 (MONDO:equivalentTo)
  • UMLS:C2931595 (MONDO:equivalentTo)
  • MEDGEN:419845 (MONDO:equivalentTo)
  • MESH:C537718 (MONDO:equivalentTo)
  • SCTID:722033000 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder

exactMatch

http://identifiers.org/mesh/C537718

http://www.orpha.net/ORDO/Orphanet_2427

http://identifiers.org/medgen/419845

http://identifiers.org/snomedct/722033000

http://linkedlifedata.com/resource/umls/id/C2931595

id

MONDO:0016571

term tracker item

https://github.com/monarch-initiative/mondo/issues/7546