(Q17144153)

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

28 July 2018

0 references

0 references

0 references

1 reference

28 July 2018

rare genetic developmental defect during embryogenesis

1 reference

28 July 2018

malformation syndrome with odontal and/or periodontal component

1 reference

28 July 2018

dentocutaneous disease with cataract

1 reference

28 July 2018

X-linked intellectual disability

1 reference

28 July 2018

X-linked dominant disease

1 reference

30 November 2020

1 reference

30 November 2020

0 references

5 references

13 August 2019

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/9520

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9520

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000188158/MONDO_0010545

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

759.89

1 reference

http://purl.obolibrary.org/obo/DOID_0060599

28 July 2018

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060599

1 reference

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

Identifiers.org

reference URL

http://www.orpha.net/ORDO/Orphanet_627

0 references

Identifiers

MeSH descriptor ID

C538336

mapping relation type

exact match

1 reference

28 July 2018

0 references

0 references

1 reference

1 reference

30 November 2020

2 references

28 July 2018

28 August 2019

1 reference

28 July 2018