Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620712 http://purl.bioontology.org/ontology/OMIM/620712
Preferred Name	POLYDACTYLY-MACROCEPHALY SYNDROME
Synonyms	PDMCS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PDMCS
prefLabel	POLYDACTYLY-MACROCEPHALY SYNDROME
Gene Symbol	PDMCS MAX
Scope Statement	Caused by mutation in the MAX protein gene (MAX, 154950.0006) [MOLECULAR BASIS] Based on a report of 2 unrelated boys (last curated February 2024) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU078133 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU002512 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU072199 http://purl.bioontology.org/ontology/OMIM/MTHU004240 http://purl.bioontology.org/ontology/OMIM/MTHU078132 http://purl.bioontology.org/ontology/OMIM/MTHU078131 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU078135 http://purl.bioontology.org/ontology/OMIM/MTHU078134 See more See less
tui	T047
Gene Locus	14q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620712
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5882754
OMIM Entry Type	3
OMIM MimType Value	pound

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