Laurin-Sandrow syndrome ^ingelesa (Q55780712)

Wikidatatik

Nabigaziora joan Bilaketara joan

developmental defect during embryogenesis ^ingelesa

Hizkuntza	Etiketa	Deskribapena	Goitizenak
euskara	Ez da etiketarik zehaztu	Ez da deskribapenik zehaztu
ingelesa	Laurin-Sandrow syndrome	developmental defect during embryogenesis	Laurin-Sandrow Syndrome, Segmental Laurin Sandrow syndrome Fibula ulna duplication tibia radius absence LAURIN-SANDROW SYNDROME LAURIN-SANDROW SYNDROME; LSS Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly LSS Fibula and Ulna, Duplication Of, With Absence of Tibia and Radius Mirror hands and feets-nasal defects syndrome Sandrow syndrome Mirror Hands and Feet With Nasal Defects

Adierazpenak

developmental defect during embryogenesis ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

gaixotasun arraro

0 erreferentzia

class of disease ^ingelesa

0 erreferentzia

honen azpiklasea

syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ^ingelesa

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Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

dysostosis ^ingelesa

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Disease Ontology ^ingelesa

27 azaroa 2020

Disease Ontology ID ^ingelesa

genetic association ^ingelesa

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UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

LMBR1 ^ingelesa

3 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. ^ingelesa

Open Targets Platform ^ingelesa

24 abuztua 2023

URL erreferentzia

https://platform.opentargets.org/evidence/ENSG00000105983/MONDO_0007615

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

baliokidetasun zehatza

http://purl.obolibrary.org/obo/HP_0010689

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Human Phenotype Ontology release 2018-03-08 ^ingelesa

8 urria 2018

Human Phenotype Ontology ID ^ingelesa

http://www.orpha.net/ORDO/Orphanet_2378

0 erreferentzia

http://purl.obolibrary.org/obo/DOID_0111350

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Disease Ontology ^ingelesa

27 azaroa 2020

Disease Ontology ID ^ingelesa

http://identifiers.org/doid/DOID:0111350

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Identifiers.org ^ingelesa

URL erreferentzia

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

Identifikatzaileak

MeSH identifikadorea

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Erreferentzia bat

Human Phenotype Ontology release 2018-03-08 ^ingelesa

8 urria 2018

Human Phenotype Ontology ID ^ingelesa

KEGG-ren identifikatzailea

0 erreferentzia

Disease Ontology ID ^ingelesa

Erreferentzia bat

Disease Ontology ^ingelesa

27 azaroa 2020

Disease Ontology ID ^ingelesa

GARD rare disease ID ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Human Phenotype Ontology ID ^ingelesa

Erreferentzia bat

Human Phenotype Ontology release 2018-03-08 ^ingelesa

8 urria 2018

Human Phenotype Ontology ID ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Mondo ID ^ingelesa

0 erreferentzia

OMIM ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Orphanet ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

UMLS CUI ^ingelesa

mapping relation type ^ingelesa

close match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Erreferentzia bat

Human Phenotype Ontology release 2018-03-08 ^ingelesa

8 urria 2018

Human Phenotype Ontology ID ^ingelesa

UniProt disease ID ^ingelesa

0 erreferentzia

Sitelinks

Wikipedia(1 entry)

dewiki Laurin-Sandrow-Syndrom

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