Online Mendelian Inheritance in Man - PANCREATIC AND CEREBELLAR AGENESIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609069 http://purl.bioontology.org/ontology/OMIM/609069
Preferred Name	PANCREATIC AND CEREBELLAR AGENESIS
Synonyms	DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS PACA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS PACA
prefLabel	PANCREATIC AND CEREBELLAR AGENESIS
Gene Symbol	PAGEN2 PTF1A PACA
Scope Statement	Caused by mutation in the pancreas transcription factor 1, alpha subunit gene (PTF1A, 607194.0001) [MOLECULAR BASIS] Death in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU004215 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000581 http://purl.bioontology.org/ontology/OMIM/MTHU046158 http://purl.bioontology.org/ontology/OMIM/MTHU046159 http://purl.bioontology.org/ontology/OMIM/MTHU046152 http://purl.bioontology.org/ontology/OMIM/MTHU046155 http://purl.bioontology.org/ontology/OMIM/MTHU041966 http://purl.bioontology.org/ontology/OMIM/MTHU046154 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU046153 http://purl.bioontology.org/ontology/OMIM/MTHU017273 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU037147 http://purl.bioontology.org/ontology/OMIM/MTHU017170 http://purl.bioontology.org/ontology/OMIM/MTHU043400 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU046160 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU046163 http://purl.bioontology.org/ontology/OMIM/MTHU007970 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU046162 http://purl.bioontology.org/ontology/OMIM/MTHU046151 http://purl.bioontology.org/ontology/OMIM/MTHU006914 http://purl.bioontology.org/ontology/OMIM/MTHU068685 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	10p12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609069
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1836780
OMIM Entry Type	3
OMIM MimType Value	pound

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