Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	acromesomelic dysplasia 2B
Synonyms	fibular aplasia-complex brachydactyly syndrome fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2B Du Pan syndrome
ID	http://purl.obolibrary.org/obo/MONDO_0009231
altLabel	fibular aplasia-complex brachydactyly syndrome fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2B Du Pan syndrome
has_exact_synonym	fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2B Du Pan syndrome
has_related_synonym	fibular aplasia-complex brachydactyly syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948
label	acromesomelic dysplasia 2B
prefixIRI	MONDO:0009231
prefLabel	acromesomelic dysplasia 2B
seeAlso	https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0019054 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0019696

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009231	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009231	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009231	EFO	SAME_URI
http://purl.bioontology.org/ontology/OMIM/228900	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0009231	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009231	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009231	EFO	LOOM