(Q27674739)

English

endocrine-cerebro-osteodysplasia syndrome

human disease

ECO syndrome
ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO
ECO
ENDOCRINE-CEREBROOSTEODYSPLASIA

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

29 November 2021

syndrome with limb malformations as a major feature

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012980

dysostosis with limb and face anomalies as a major feature

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012980

lethal multiple congenital anomalies/dysmorphic syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

29 November 2021

0 references

2 references

13 August 2019

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

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WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060641

1 reference

29 November 2021

http://identifiers.org/doid/DOID:0060641

2 references

10 July 2020

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

Identifiers

0 references

1 reference

29 November 2021

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

28 July 2018

0 references

(Q27674739)

endocrine-cerebro-osteodysplasia syndrome

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