(Q55784953)

English

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

human disease

MINDS syndrome
Smith-Kingsmore Syndrome
SKS

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

http://www.orpha.net/ORDO/Orphanet_457485

0 references

Identifiers

0 references

GARD rare disease ID

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

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)

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