Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/123000
http://purl.bioontology.org/ontology/OMIM/123000
Preferred Name

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Synonyms
CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE
CMDJ
CMDD
CMD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE
CMDJ
CMDD
CMD
prefLabel
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Gene Symbol
ANK
ANKH
HANK
CCAL2
CPPDD
CMDJ
See more
See less
Scope Statement
See 218400 for an autosomal recessive form caused by mutation in GJA1 (121014.0021) [MISCELLANEOUS]
Caused by mutation in the ANHK inorganic pyrophosphate transport regulator gene (ANKH, 605145.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000258
http://purl.bioontology.org/ontology/OMIM/MTHU018815
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU018817
http://purl.bioontology.org/ontology/OMIM/MTHU007861
http://purl.bioontology.org/ontology/OMIM/MTHU018816
http://purl.bioontology.org/ontology/OMIM/MTHU003667
http://purl.bioontology.org/ontology/OMIM/MTHU008519
http://purl.bioontology.org/ontology/OMIM/MTHU018813
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU011533
http://purl.bioontology.org/ontology/OMIM/MTHU018814
http://purl.bioontology.org/ontology/OMIM/MTHU001181
http://purl.bioontology.org/ontology/OMIM/MTHU018818
http://purl.bioontology.org/ontology/OMIM/MTHU011532
http://purl.bioontology.org/ontology/OMIM/MTHU036649
http://purl.bioontology.org/ontology/OMIM/MTHU013682
See more
See less
tui
T047
Gene Locus
5p15.2-p14.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
123000
Semantic type UMLS property
Has inheritance type
cui
C1852502
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display