Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Bone Diseases, Endocrine (D001849)
Parent Node: Hyperpituitarism (D006964)
..Starting node ..Gigantism (D005877)
Child Nodes:
........Simpson-Golabi-Behmel syndrome (C537340)
Sister Nodes:
..Acromegaly (D000172) 6
..Gigantism (D005877) 1
..Hyperprolactinemia (D006966) 1
..Pituitary ACTH Hypersecretion (D047748) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4600
Name:	Gigantism
Definition:	The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D001849\|MESH:D006964
TreeNumbers:	C05.116.099.492 \|C05.116.132.479 \|C19.700.355.528
Synonyms:	Gigantism, Pituitary \|Pituitary Gigantism
Slim Mappings:	Endocrine system disease\|Musculoskeletal disease
Reference:	MedGen: D005877 MeSH: D005877 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants