(Q27674736)

English

neonatal diabetes mellitus with congenital hypothyroidism

Human disease

NDH syndrome
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

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Statements

0 references

0 references

neonatal diabetes mellitus

2 references

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

30 November 2020

permanent neonatal diabetes mellitus

0 references

congenital hypothyroidism

0 references

familial cystic renal disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012436

autosomal recessive disease

1 reference

30 November 2020

3 references

13 August 2019

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000107249/MONDO_0012436

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060638

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060638

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C565705

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

0 references

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

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q27674736)

neonatal diabetes mellitus with congenital hypothyroidism

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