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1
Q38045752-0C538BA5-8A67-4D71-85CB-861485B406AC
Q38045752-0C538BA5-8A67-4D71-85CB-861485B406AC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38045752-0C538BA5-8A67-4D71-85CB-861485B406AC
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
P2860
Q38045752-0C538BA5-8A67-4D71-85CB-861485B406AC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38045752-0C538BA5-8A67-4D71-85CB-861485B406AC
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
68860a55c3b8eb5d04e1077fb0bd10fdc4fd6dae
P2860
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)