(Q17122962)

English

hypoplastic tibiae-postaxial polydactyly syndrome

a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands

Werner mesomelic syndrome
hypoplastic or aplastic tibia with polydactyly

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autosomal dominant disease

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30 November 2020

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30 November 2020

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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

exact match

http://www.orpha.net/ORDO/Orphanet_3332

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http://purl.obolibrary.org/obo/DOID_0111564

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30 November 2020

http://identifiers.org/doid/DOID:0111564

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https://registry.identifiers.org/registry/doid

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Werner syndrome

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Identifiers

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30 November 2020

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Monarch Disease Ontology release 2018-06-29

7 August 2018

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exact match

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stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

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Wikipedia(1 entry)

dewiki Eaton-McKusick-Syndrom

(Q17122962)

hypoplastic tibiae-postaxial polydactyly syndrome

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