About: http://www.idref.fr/040833615/id

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: http://www.idref.fr/040833615/id Goto Sponge NotDistinct Permalink

An Entity of Type : skos:Concept, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Concept
sameAs	http://id.nlm.nih.gov/mesh/D018813
notation	C04.588.322.400.505 C04.651.600.505 C04.700.630.505 C16.320.700.630.505 C19.344.400.505
alternative label	Syndrome de Sipple MEA IIa MEN2a Multiple Endocrine Neoplasms Type 2a Neoplasia, Multiple Endocrine Type 2a Polyadénomatose endocrinienne de type 2A Adénomatose endocrinienne multiple de type 2a MEA II MEN-2A Syndrome Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia, Type IIa NEM2a Neoplasms, Multiple Endocrine Type 2a Sipple Syndrome Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma MEA 2a MEN 2 MEN 2A Syndrome MEN 2a MEN IIa MEN-2A Syndromes Multiple Endocrine Neoplasia Type 2a NEM 2a NEM IIa Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Apudomatose de type IIa MEN II
preferred label	Néoplasie endocrinienne multiple de type 2a
is in scheme	http://id.nlm.nih.gov/mesh
note	A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease
is seeAlso of	http://www.idref.fr/040758729/id http://www.idref.fr/040828999/id
is primary topic of	http://www.idref.fr/040833615
is Subject of	http://www.sudoc.fr/095165673/id http://www.sudoc.fr/008741387/id http://www.sudoc.fr/05915246X/id http://www.sudoc.fr/060385731/id http://www.sudoc.fr/274117606/id Dépistage familial du syndrome de néoplasies endocriniennes multiples de type 2A

Faceted Search & Find service v1.13.91 as of Aug 16 2018

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of May 14 2019, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (70 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software