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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: Congenital Abnormalities (D000013)
Parent Node: Deafness (D003638)
Parent Node: Thrombasthenia (D013915)
..Starting node ..Schlegelberger Grote syndrome (C536635)
Child Nodes:
Sister Nodes:
..Glanzmann Thrombasthenia, Autosomal Dominant (C566061)
..Schlegelberger Grote syndrome (C536635)
..Thrombasthenia-Thrombocytopenia, Hereditary (C566060)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10035
Name:	Schlegelberger Grote syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D003638\|MESH:D013915
TreeNumbers:	C09.218.458.341.186/C536635 \|C10.597.751.418.341.186/C536635 \|C15.378.100.100.820/C536635 \|C15.378.140.810/C536635 \|C15.378.463.810/C536635 \|C16.131/C536635 \|C16.320.099.820/C536635 \|C23.888.592.763.393.341.186/C536635
Synonyms:	Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear \|Triphalangeal thumbs thrombocytopathy deafness
Slim Mappings:	Blood disease\|Congenital abnormality\|Ear-nose-throat disease\|Genetic disease (inborn)\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536635 MeSH: C536635 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants