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Online Mendelian Inheritance in Man
| Preferred Name | PITUITARY ADENOMA 1, MULTIPLE TYPES | |
| Synonyms |
PITUITARY ADENOMA, FAMILIAL ISOLATED FIS PITA1 ISOLATED FAMILIAL SOMATOTROPINOMA FIPA ACROMEGALY DUE TO PITUITARY ADENOMA 1 SOMATOTROPHINOMA, FAMILIAL SOMATOTROPINOMA, FAMILIAL ISOLATED PITUITARY ADENOMA PREDISPOSITION PAGH1 IFS PAP |
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| ID |
http://purl.bioontology.org/ontology/OMIM/102200 |
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| altLabel |
PITUITARY ADENOMA, FAMILIAL ISOLATED FIS PITA1 ISOLATED FAMILIAL SOMATOTROPINOMA FIPA ACROMEGALY DUE TO PITUITARY ADENOMA 1 SOMATOTROPHINOMA, FAMILIAL SOMATOTROPINOMA, FAMILIAL ISOLATED PITUITARY ADENOMA PREDISPOSITION PAGH1 IFS PAP
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| cui |
C1863340 C4521132 C2676191 C3489630 C4538355
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| Gene Locus |
11q13.3
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| Gene Symbol |
XAP2 PITA1 AIP ARA9
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU066985 http://purl.bioontology.org/ontology/OMIM/MTHU024415 http://purl.bioontology.org/ontology/OMIM/MTHU024420 http://purl.bioontology.org/ontology/OMIM/MTHU016150 http://purl.bioontology.org/ontology/OMIM/MTHU024417 http://purl.bioontology.org/ontology/OMIM/MTHU024416 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU018973 http://purl.bioontology.org/ontology/OMIM/MTHU024413 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU024414 http://purl.bioontology.org/ontology/OMIM/MTHU024418 http://purl.bioontology.org/ontology/OMIM/MTHU014527 http://purl.bioontology.org/ontology/OMIM/MTHU024421 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU024419 http://purl.bioontology.org/ontology/OMIM/MTHU016146 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| Moved from |
600634
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|
| notation |
102200
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
PITUITARY ADENOMA 1, MULTIPLE TYPES
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|
| Scope Statement |
Caused by mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP, 605555.0001) [MOLECULAR BASIS] Onset in second or third decades [MISCELLANEOUS] Caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, 139320.0008) [MOLECULAR BASIS]
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|
| tui |
T047 T033 T191
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| Delete | Subject | Author | Type | Created |
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