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: genetic endocrine growth disease (MONDO:0015514)
Parent Node: rare endocrine growth disease (MONDO:0019590)
Parent Node: rare genetic hypothalamic or pituitary disease (MONDO:0015968)
..Starting node ..growth hormone insensitivity syndrome ()
Child Nodes:
........growth delay due to insulin-like growth factor I resistance ()
........growth delay due to insulin-like growth factor type 1 deficiency ()
........Laron syndrome ()
........Laron syndrome with immunodeficiency ()
........short stature due to partial GHR deficiency ()
........short stature due to primary acid-labile subunit deficiency ()
Sister Nodes:
..familial hyperprolactinemia ()
..familial infantile gigantism ()
..growth hormone insensitivity syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15892
Name:	growth hormone insensitivity syndrome
Definition:	Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	GHIS; Growth hormone insensitivity syndromes; short stature due to a defect in growth hormone receptor or post-receptor pathway
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal