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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/270450
http://purl.bioontology.org/ontology/OMIM/270450
|
|---|---|
| Preferred Name | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO |
| Synonyms |
IGF-I RESISTANCE
SOMATOMEDIN, END-ORGAN INSENSITIVITY TO
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN
IGF1RES
SOMATOMEDIN-C, RESISTANCE TO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IGF-I RESISTANCE
SOMATOMEDIN, END-ORGAN INSENSITIVITY TO
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN
IGF1RES
SOMATOMEDIN-C, RESISTANCE TO
|
|---|---|
| prefLabel | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
|
| Gene Symbol | IGF1R
|
| Scope Statement | Dominant and recessive patients have IUGR, short stature, and microcephaly [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Heterozygous relatives of some biallelic patients appear to be unaffected [MISCELLANEOUS]
Caused by mutation in the insulin-like growth factor-1 receptor gene (IGF1R, 147370.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q26.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 270450
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1849157
C1849158
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| Moved from | 243095
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |