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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: Heart Defects, Congenital (D006330)
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Intellectual Disability (D008607)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Tamari Goodman syndrome (C536896)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10868
Name:	Tamari Goodman syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D008607\|MESH:D015417\|MESH:D038062
TreeNumbers:	C05.660.585.988/C536896 \|C10.500.300/C536896 \|C10.574.500.495/C536896 \|C10.597.606.643/C536896 \|C10.668.829.800.300/C536896 \|C14.240.400/C536896 \|C14.280.400/C536896 \|C16.131.077/C536896 \|C16.131.240.400/C536896 \|C16.131.621.585.988/C536896 \|C16.131.666.300/C53689
Synonyms:	Congenital heart disease radio ulnar synostos mental retardation \|Upper limb cardiovascular syndromes
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536896 MeSH: C536896 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants