ZFIN Human Disease: permanent neonatal diabetes mellitus

OBO ID: DOID:0060639

Term Name:	permanent neonatal diabetes mellitus		Search Ontology:
Synonyms:	PDMI permanent diabetes mellitus of infancy PNDM
Definition:	A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. https://www.ncbi.nlm.nih.gov/pubmed/17213273
References:	GARD:10457 OMIM:606176
Ontology:	Human Disease ( DOID:0060639 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease neonatal diabetes autosomal dominant disease autosomal recessive disease neonatal diabetes Show first 5 Terms

OTHER permanent neonatal diabetes mellitus PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GCK	gck	Diabetes mellitus, permanent neonatal 1	606176

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None