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Meckel syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018921

A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [ https://orcid.org/0000-0001-5208-3432 Orphanet:564 ]

Synonyms: Meckel-Gruber syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050778 (MONDO:equivalentTo)
  • Orphanet:564 (MONDO:equivalentTo)
  • OMIMPS:249000 (https://orcid.org/0000-0002-6601-2165)
  • icd11.foundation:695796893 (https://orcid.org/0000-0002-4142-7153)
  • MEDGEN:120513 (MONDO:equivalentTo)
  • ICD9:753.10 (DOID:0050778)
  • ICD9:753.1 (DOID:0050778)
  • NCIT:C98978 (MONDO:equivalentTo)
  • GARD:3436 (MONDO:GARD)
  • UMLS:C0265215 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:29076005 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, 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, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, ordo_malformation_syndrome, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare, mondo_top_grouping_syndromic_disease

exactMatch

http://www.orpha.net/ORDO/Orphanet_564

http://identifiers.org/snomedct/29076005

http://purl.obolibrary.org/obo/DOID_0050778

https://omim.org/phenotypicSeries/PS249000

http://linkedlifedata.com/resource/umls/id/C0265215

http://identifiers.org/medgen/120513

http://purl.obolibrary.org/obo/NCIT_C98978

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/695796893

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0015214

http://purl.obolibrary.org/obo/MONDO_0015335

http://purl.obolibrary.org/obo/MONDO_0020229

http://purl.obolibrary.org/obo/MONDO_0020237

http://purl.obolibrary.org/obo/MONDO_0019741

http://purl.obolibrary.org/obo/MONDO_0018731

http://purl.obolibrary.org/obo/MONDO_0019721

http://purl.obolibrary.org/obo/MONDO_0015220

id

MONDO:0018921

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml