Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614613
http://purl.bioontology.org/ontology/OMIM/614613
Preferred Name

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Synonyms
ACRDYS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ACRDYS2
prefLabel
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Gene Symbol
PDE4D
ACRDYS2
DPDE3
Scope Statement
Onset at birth [MISCELLANEOUS]
Caused by mutation in the cAMP-specific phosphodiesterase 4D gene (PDE4D, 600129.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU021126
http://purl.bioontology.org/ontology/OMIM/MTHU039922
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU001504
http://purl.bioontology.org/ontology/OMIM/MTHU000601
http://purl.bioontology.org/ontology/OMIM/MTHU003335
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU038291
http://purl.bioontology.org/ontology/OMIM/MTHU007990
http://purl.bioontology.org/ontology/OMIM/MTHU021344
http://purl.bioontology.org/ontology/OMIM/MTHU039923
http://purl.bioontology.org/ontology/OMIM/MTHU001221
http://purl.bioontology.org/ontology/OMIM/MTHU010134
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU036798
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU039920
http://purl.bioontology.org/ontology/OMIM/MTHU004240
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU005669
http://purl.bioontology.org/ontology/OMIM/MTHU000554
http://purl.bioontology.org/ontology/OMIM/MTHU039921
http://purl.bioontology.org/ontology/OMIM/MTHU039924
http://purl.bioontology.org/ontology/OMIM/MTHU069392
http://purl.bioontology.org/ontology/OMIM/MTHU009268
http://purl.bioontology.org/ontology/OMIM/MTHU007725
http://purl.bioontology.org/ontology/OMIM/MTHU027565
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU046573
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU000250
http://purl.bioontology.org/ontology/OMIM/MTHU039919
http://purl.bioontology.org/ontology/OMIM/MTHU001976
http://purl.bioontology.org/ontology/OMIM/MTHU038801
http://purl.bioontology.org/ontology/OMIM/MTHU010138
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tui
T047
Gene Locus
5q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614613
Semantic type UMLS property
Has inheritance type
cui
C3553250
OMIM Entry Type
3
OMIM MimType Value
pound
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