(Q18553406)

English

brachyolmia

osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature

brachyrachia

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osteochondrodysplasia

1 reference

15 May 2019

1 reference

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

on focus list of Wikimedia project

WikiProject Medicine

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ICD-9-CM

756.19

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_0050690

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0050690

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_1293

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Identifiers

MeSH descriptor ID

C537098

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015262

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Wikipedia(1 entry)

dewiki Brachyolmie

(Q18553406)

brachyolmia

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