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Preferred Name

INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES
Synonyms

IMAGE SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/614732
altLabel

IMAGE SYNDROME

IMAGE
cui

C1846009
Gene Locus

11p15.5
Gene Symbol

CDKN1C

BWS

KIP2

IMAGE
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU011178

http://purl.bioontology.org/ontology/OMIM/MTHU032719

http://purl.bioontology.org/ontology/OMIM/MTHU007215

http://purl.bioontology.org/ontology/OMIM/MTHU002946

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU069432

http://purl.bioontology.org/ontology/OMIM/MTHU005834

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036357

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

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU013392

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU032718

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU004401

http://purl.bioontology.org/ontology/OMIM/MTHU036717

http://purl.bioontology.org/ontology/OMIM/MTHU000185
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

300290
notation

614732
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES
Scope Statement

Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0007) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564543 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C564543 Medical Subject Headings / 医学主题词表 LOOM