Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Synonyms

IGF1D

GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION

IGF1 DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/608747
altLabel

IGF1D

GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION

IGF1 DEFICIENCY
cui

C1837475
Gene Locus

12q22-q24.1
Gene Symbol

IGF1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000379

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

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU001790

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU000560

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

http://purl.bioontology.org/ontology/OMIM/MTHU001254

http://purl.bioontology.org/ontology/OMIM/MTHU001788

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

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU001787

http://purl.bioontology.org/ontology/OMIM/MTHU001791

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

http://purl.bioontology.org/ontology/OMIM/MTHU001720
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

608747
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Scope Statement

Onset in utero [MISCELLANEOUS]

Caused by mutation in the insulin-like growth factor-1 gene (IGF1, 147440.0001) [MOLECULAR BASIS]
tui

T047
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