(Q18027624)

English

Saldino-Noonan syndrome

Human disease

type I short rib polydactyly syndrome
Short rib-polydactyly syndrome type 1

In more languages

Statements

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class of disease

0 references

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

short rib – polydactyly syndrome

0 references

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

symptoms and signs

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

1 reference

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0050549

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050549

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_93270

0 references

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

Sitelinks

Wikipedia(3 entries)

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)

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