https://search.clinicalgenome.org/kb/conditions/MONDO:0019952

pulmonary disease, chronic obstructive, susceptibility to

http://identifiers.org/meddra/10062547

• http://identifiers.org/medgen/124381
• http://linkedlifedata.com/resource/umls/id/C0270960
• http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1185572073
• congenital myopathydoid
• Congenital myopathyordo
• https://omim.org/phenotypicSeries/PS117000

• obsolete Batten Turner congenital myopathydoid
• congenital myopathydoid
• GARD:5898
• icd11.foundation:1185572073
• MedDRA:10062547
• MEDGEN:124381
• NANDO:1200477
• NANDO:2100234
• OMIMPS:117000
• Orphanet:97245
• UMLS:C0270960

• rare
• otar
• gard_rare
• disease_grouping
• ordo_group_of_disorders
• clingen

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

• https://github.com/monarch-initiative/mondo/issues/5658
• https://github.com/monarch-initiative/mondo/issues/4069

• myopathy
• hereditary skeletal muscle disorder
• has characteristicrosomecongenital
• has characteristicrosomecongenital