(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

In more languages

default values for all languages

No label defined

No description defined

edit

Statements

0 references

0 references

autosomal dominant disease

1 reference

30 November 2020

1 reference

30 November 2020

0 references

1 reference

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

0 references

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

1 reference

30 November 2020

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

1 reference

stated in

Identifiers.org

reference URL

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

different from

Werner syndrome

0 references

Identifiers

0 references

1 reference

30 November 2020

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

Sitelinks

Wikipedia(1 entry)

dewiki Eaton-McKusick-Syndrom

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q17122962&oldid=2087185492"