(Q3961674)

English

Filippi syndrome

No description defined

Scott Craniodigital Syndrome With Mental Retardation
Syndactyly, Type I, With Microcephaly and Mental Retardation
FILIPPI SYNDROME; FLPIS
FILIPPI SYNDROME
Type 1 syndactyly-microcephaly-intellectual disability syndrome
FLPIS

In more languages

Statements

malformation syndrome

0 references

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

3 references

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Filippi Syndrome: Report of a Rare Case

Multiple dental and skeletal abnormalities in an individual with filippi syndrome

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000169607/MONDO_0010092

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_3255

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

GARD rare disease ID

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Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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(2 entries)

itwiki Sindrome di Filippi
plwiki Zespół Filippiego

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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