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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: Bone Diseases, Developmental (D001848)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Fryns Hofkens Fabry syndrome (C538069)
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:	4448
Name:	Fryns Hofkens Fabry syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D038062
TreeNumbers:	C05.116.099/C538069 \|C05.660.585.988/C538069 \|C16.131.621.585.988/C538069
Synonyms:	Ulna hypoplasia \|Ulnar hypoplasia \|Upper limb mesomelic dysplasia
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C538069 MeSH: C538069 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants