(Q55788803)

English

short rib dysplasia

human disease

SRP
Short-rib dysplasia (with or without polydactyly)

In more languages

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No label defined

No description defined

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

primary bone dysplasia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

756.3

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_93426

0 references

Identifiers

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 ID (Foundation)

0 references

ICD-11 ID (MMS)

LD24.B

subject named as

Short rib syndromes

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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