Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
ID

http://purl.bioontology.org/ontology/OMIM/612447
cui

C2676231
Gene Locus

11q23.1
Gene Symbol

ZBTB16

PLZF

ZNF145
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025069

http://purl.bioontology.org/ontology/OMIM/MTHU005296

http://purl.bioontology.org/ontology/OMIM/MTHU025067

http://purl.bioontology.org/ontology/OMIM/MTHU025065

http://purl.bioontology.org/ontology/OMIM/MTHU025073

http://purl.bioontology.org/ontology/OMIM/MTHU025075

http://purl.bioontology.org/ontology/OMIM/MTHU025063

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU001432

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

http://purl.bioontology.org/ontology/OMIM/MTHU002016

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

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU025070

http://purl.bioontology.org/ontology/OMIM/MTHU025076

http://purl.bioontology.org/ontology/OMIM/MTHU025064

http://purl.bioontology.org/ontology/OMIM/MTHU025062

http://purl.bioontology.org/ontology/OMIM/MTHU025068

http://purl.bioontology.org/ontology/OMIM/MTHU025066

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU025072

http://purl.bioontology.org/ontology/OMIM/MTHU002115

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

http://purl.bioontology.org/ontology/OMIM/MTHU030166
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612447
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567306 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567306 Medical Subject Headings LOOM