(Q55788319)

English

microcephalic primordial dwarfism due to RTTN deficiency

human disease

In more languages

edit

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

microcephalic primordial dwarfism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

RTTN mutations link primary cilia function to organization of the human cerebral cortex

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000176225/MONDO_0018764

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_468631

0 references

Identifiers

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0018764

(Q55788319)

microcephalic primordial dwarfism due to RTTN deficiency

Statements

Identifiers

Sitelinks

Wikipedia(0 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)