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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: Abnormalities, Multiple (D000015)
Parent Node: Acromegaly (D000172)
Parent Node: Cleft Palate (D002972)
Parent Node: Growth Disorders (D006130)
Parent Node: Hernia (D006547)
..Starting node ..Acromegaloid features, overgrowth, cleft palate, and hernia (C535656)
Child Nodes:
Sister Nodes:
..Acromegaloid features, overgrowth, cleft palate, and hernia (C535656)
..Encephalocele (D004677) 24
..Hernia, Abdominal (D046449) 17
..Hernia, Diaphragmatic (D006548) 20
..Hernia, Obturator (D006553)
..Intervertebral Disc Displacement (D007405) 2
..Megarbane syndrome (C536145)
..Meningocele (D008588) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	197
Name:	Acromegaloid features, overgrowth, cleft palate, and hernia
Definition:
Alternative IDs:	OMIM:606049
ParentIDs:	MESH:D000015\|MESH:D000172\|MESH:D002972\|MESH:D006130\|MESH:D006547
TreeNumbers:	C05.116.132.082/C535656 \|C05.500.460.185/C535656 \|C05.660.207.540.460.185/C535656 \|C07.320.440.185/C535656 \|C07.465.525.185/C535656 \|C07.650.500.460.185/C535656 \|C07.650.525.185/C535656 \|C10.228.140.617.738.250.100/C535656 \|C16.131.077/C535656 \|C16.131.621.207.54
Synonyms:	AOCH
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)\|Pathology (process)
Reference:	MedGen: C535656 MeSH: C535656 OMIM: 606049; Genes:
Phenotypes
Disease Causing ClinVar Variants