Online Mendelian Inheritance in Man - ACROMESOMELIC DYSPLASIA 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609441 http://purl.bioontology.org/ontology/OMIM/609441
Preferred Name	ACROMESOMELIC DYSPLASIA 3
Synonyms	AMD3 AMDD ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AMD3 AMDD ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
prefLabel	ACROMESOMELIC DYSPLASIA 3
Gene Symbol	BDA2 BMPR1B BDA1D AMD3 ALK6
Scope Statement	Allelic to brachydactyly, type A2 (112600) [MISCELLANEOUS] Caused by mutations in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000829 http://purl.bioontology.org/ontology/OMIM/MTHU000823 http://purl.bioontology.org/ontology/OMIM/MTHU000828 http://purl.bioontology.org/ontology/OMIM/MTHU000830 http://purl.bioontology.org/ontology/OMIM/MTHU000834 http://purl.bioontology.org/ontology/OMIM/MTHU000820 http://purl.bioontology.org/ontology/OMIM/MTHU000827 http://purl.bioontology.org/ontology/OMIM/MTHU000833 http://purl.bioontology.org/ontology/OMIM/MTHU000816 http://purl.bioontology.org/ontology/OMIM/MTHU000832 http://purl.bioontology.org/ontology/OMIM/MTHU000818 http://purl.bioontology.org/ontology/OMIM/MTHU000826 http://purl.bioontology.org/ontology/OMIM/MTHU000825 http://purl.bioontology.org/ontology/OMIM/MTHU064104 http://purl.bioontology.org/ontology/OMIM/MTHU000822 http://purl.bioontology.org/ontology/OMIM/MTHU000831 http://purl.bioontology.org/ontology/OMIM/MTHU000824 http://purl.bioontology.org/ontology/OMIM/MTHU000821 http://purl.bioontology.org/ontology/OMIM/MTHU036761 See more See less
tui	T047
Gene Locus	4q23-q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609441
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225404
OMIM Entry Type	3
OMIM MimType Value	pound

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