Disease browser and phenotype 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

Disease Browser
Parent Node: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Obesity (D009765)
Parent Node: Sex Chromosome Aberrations (D012729)
..Starting node ..Young Hughes syndrome (C536715)
Child Nodes:
Sister Nodes:
..49,XXXXX syndrome (C535319)
..Chromosome Xq duplication syndrome (C536732)
..Male sterility due to Y-chromosome deletions (C536297)
..Tetrasomy X (C536502)
..Triple X syndrome (C535318)
..X chromosome, duplication Xq13 1 q21 1 (C536753)
..X chromosome, monosomy Xp22 pter (C536754)
..X chromosome, monosomy Xq28 (C536755)
..X chromosome, trisomy Xp3 (C536756)
..X chromosome, trisomy Xpter Xq13 (C536731)
..X chromosome, trisomy Xq25 (C536733)
..XYY Karyotype (D014997) 1
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11859
Name:	Young Hughes syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D007006\|MESH:D008607\|MESH:D009765\|MESH:D012729
TreeNumbers:	C10.597.606.643/C536715 \|C18.654.726.500/C536715 \|C19.391.482/C536715 \|C23.550.210.815/C536715 \|C23.550.393/C536715 \|C23.888.144.699.500/C536715 \|C23.888.592.604.646/C536715 \|F03.550.600/C536715
Synonyms:	Sex-linked mental retardation, short stature, obesity and hypogonadism
Slim Mappings:	Endocrine system disease\|Mental disorder\|Nervous system disease\|Nutrition disorder\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536715 MeSH: C536715 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants