(Q55784788)

English

short stature with microcephaly and distinctive facies

human disease

SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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Genomic analysis of primordial dwarfism reveals novel disease genes

subclass of

genetic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Genomic analysis of primordial dwarfism reveals novel disease genes

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000119878/MONDO_0014347

based on heuristic

inferred from an Open Targets association score over 0.7

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0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q55784788)

short stature with microcephaly and distinctive facies

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