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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: Amniotic Band Syndrome (D000652)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Terminal Transverse Defects of Arm (C565681)
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:	10931
Name:	Terminal Transverse Defects of Arm
Definition:
Alternative IDs:
ParentIDs:	MESH:D000652\|MESH:D038062
TreeNumbers:	C05.660.585.988/C565681 \|C16.131.621.585.988/C565681 \|C16.614.042/C565681
Synonyms:
Slim Mappings:	Congenital abnormality\|Infant-newborn disease\|Musculoskeletal disease
Reference:	MedGen: C565681 MeSH: C565681 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants