(Q55781693)

English

blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

very rare genetic disorder

BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
Frydman-Cohen-Karmon syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

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No label defined

No description defined

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

class of disease

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

multiple congenital anomalies/dysmorphic syndrome without intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic developmental defect of the eye

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_2057

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Sitelinks

Wikipedia(1 entry)

enwiki Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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