MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: brain disease (MONDO:0005560)
Parent Node: neuroendocrine disease (MONDO:0100070)
..Starting node ..pituitary gland disease ()
Child Nodes:
........anterior pituitary gland disease ()
........empty sella syndrome ()
........hypophysitis ()
........hypopituitarism ()
........inappropriate ADH syndrome ()
........necrosis of pituitary ()
........neurohypophyseal diabetes insipidus ()
........pituitary hypoplasia ()
........pituitary tumor ()
Sister Nodes:
..central diabetes insipidus ()
..pineal body neoplasm ()
..pituitary gland disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3381
Name:	pituitary gland disease
Definition:	A disease involving the pituitary gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of pituitary gland; disease or disorder of pituitary gland; disorder of pituitary gland; disorder of pituitary gland; pituitary disease; pituitary gland disease; pituitary gland disease or disorder; pituitary gland disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PGAM2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal