Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/264180
http://purl.bioontology.org/ontology/OMIM/264180
Preferred Name

PSEUDODIASTROPHIC DYSPLASIA
Synonyms
PDD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PDD
prefLabel
PSEUDODIASTROPHIC DYSPLASIA
Scope Statement
Cartilage shows irregular myxoid degeneration with small cystic areas [MISCELLANEOUS]
Many patients die in neonatal period [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU056988
http://purl.bioontology.org/ontology/OMIM/MTHU000068
http://purl.bioontology.org/ontology/OMIM/MTHU056984
http://purl.bioontology.org/ontology/OMIM/MTHU019372
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU008739
http://purl.bioontology.org/ontology/OMIM/MTHU036551
http://purl.bioontology.org/ontology/OMIM/MTHU002002
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU036699
http://purl.bioontology.org/ontology/OMIM/MTHU056983
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU058458
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU056978
http://purl.bioontology.org/ontology/OMIM/MTHU056987
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU056986
http://purl.bioontology.org/ontology/OMIM/MTHU056989
http://purl.bioontology.org/ontology/OMIM/MTHU013377
http://purl.bioontology.org/ontology/OMIM/MTHU056977
http://purl.bioontology.org/ontology/OMIM/MTHU056982
http://purl.bioontology.org/ontology/OMIM/MTHU056980
http://purl.bioontology.org/ontology/OMIM/MTHU015481
http://purl.bioontology.org/ontology/OMIM/MTHU002163
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU056985
http://purl.bioontology.org/ontology/OMIM/MTHU004142
http://purl.bioontology.org/ontology/OMIM/MTHU056981
http://purl.bioontology.org/ontology/OMIM/MTHU003440
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU056979
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tui
T047
MIMTYPEMEANING
Other, mainly phenotypes with suspected mendelian basis
notation
264180
Semantic type UMLS property
Has inheritance type
cui
C0432206
OMIM Entry Type
0
OMIM MimType Value
none
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