loading...| Preferred Name | Nesidioblastosis | |
| Synonyms |
Pancreas Nesidioblastoses Nesidioblastoses Nesidioblastoses, Pancreatic Nesidioblastosis, Pancreatic Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis Pancreatic Nesidioblastosis Nesidioblastosis of Pancreas Pancreas Nesidioblastosis Pancreatic Nesidioblastoses |
|
| Definitions |
An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D046768 |
|
| altLabel |
Pancreas Nesidioblastoses Nesidioblastoses Nesidioblastoses, Pancreatic Nesidioblastosis, Pancreatic Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis Pancreatic Nesidioblastosis Nesidioblastosis of Pancreas Pancreas Nesidioblastosis Pancreatic Nesidioblastoses |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0027773 |
|
| DC |
1 |
|
| definition |
An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11. |
|
| DX |
20050101 |
|
| FX |
D054086 D018528 |
|
| HN |
2005; use PANCREATIC DISEASES 1983-2004 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2005; see PANCREATIC DISEASES 1983-2004 |
|
| Mapped from | ||
| MDA |
20040707 |
|
| MMR |
20120703 |
|
| MN |
C06.689.150.500 C18.452.394.968.250.500 C16.614.200.500 C18.452.394.984.200.500 |
|
| notation |
D046768 |
|
| prefLabel |
Nesidioblastosis |
|
| TERMUI |
T555624 T030136 T555627 T555625 |
|
| TH |
OMIM (2013) NLM (2005) UNK (19XX) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |