Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Synonyms

MOPD2
ID

http://purl.bioontology.org/ontology/OMIM/210720
altLabel

MOPD2

OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

MOPD II
cui

C0432246
Gene Locus

21q22.3
Gene Symbol

PCNT2

KEN

SCKL4

PCNT

MOPD2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU023629

http://purl.bioontology.org/ontology/OMIM/MTHU020848

http://purl.bioontology.org/ontology/OMIM/MTHU003188

http://purl.bioontology.org/ontology/OMIM/MTHU020847

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU020843

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU067501

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU020846

http://purl.bioontology.org/ontology/OMIM/MTHU023633

http://purl.bioontology.org/ontology/OMIM/MTHU067505

http://purl.bioontology.org/ontology/OMIM/MTHU067502

http://purl.bioontology.org/ontology/OMIM/MTHU003197

http://purl.bioontology.org/ontology/OMIM/MTHU067503

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU067507

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU003181

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU012998

http://purl.bioontology.org/ontology/OMIM/MTHU067499

http://purl.bioontology.org/ontology/OMIM/MTHU013226

http://purl.bioontology.org/ontology/OMIM/MTHU019391

http://purl.bioontology.org/ontology/OMIM/MTHU003200

http://purl.bioontology.org/ontology/OMIM/MTHU020850

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU007333

http://purl.bioontology.org/ontology/OMIM/MTHU067500

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU023632

http://purl.bioontology.org/ontology/OMIM/MTHU003644

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU003186

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU023634

http://purl.bioontology.org/ontology/OMIM/MTHU003190

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU009567

http://purl.bioontology.org/ontology/OMIM/MTHU003211

http://purl.bioontology.org/ontology/OMIM/MTHU020845

http://purl.bioontology.org/ontology/OMIM/MTHU007700

http://purl.bioontology.org/ontology/OMIM/MTHU000606

http://purl.bioontology.org/ontology/OMIM/MTHU037272

http://purl.bioontology.org/ontology/OMIM/MTHU020844

http://purl.bioontology.org/ontology/OMIM/MTHU003194

http://purl.bioontology.org/ontology/OMIM/MTHU003183

http://purl.bioontology.org/ontology/OMIM/MTHU020842

http://purl.bioontology.org/ontology/OMIM/MTHU067506

http://purl.bioontology.org/ontology/OMIM/MTHU000589

http://purl.bioontology.org/ontology/OMIM/MTHU067504

http://purl.bioontology.org/ontology/OMIM/MTHU020041

http://purl.bioontology.org/ontology/OMIM/MTHU023631

http://purl.bioontology.org/ontology/OMIM/MTHU020849
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

611860

607561
notation

210720
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Scope Statement

Caused by mutation in the pericentrin 2 gene (PCNT2, 605925.0004) [MOLECULAR BASIS]
tui

T047
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