About: Cyprus facial-neuromusculoskeletal syndrome

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About: Cyprus facial-neuromusculoskeletal syndrome Goto Sponge NotDistinct Permalink

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Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects

Attributes	Values
rdf:type	Item
description	Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects (en)
exact match	wds:Q55780466-4819675B-038F-48A2-8340-1547BAB7DE17
exact match	http://www.orpha.net/ORDO/Orphanet_2674
Mondo ID	wds:Q55780466-BB548263-8F33-4291-AA94-54AC648F983A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007413
Mondo ID	MONDO_0007413
rdfs:label	Cyprus facial-neuromusculoskeletal syndrome (en) syndrome neuro-musculo-squelettique de type chypriote (fr)
skos:prefLabel	Cyprus facial-neuromusculoskeletal syndrome (en) syndrome neuro-musculo-squelettique de type chypriote (fr)
name	Cyprus facial-neuromusculoskeletal syndrome (en) syndrome neuro-musculo-squelettique de type chypriote (fr)
instance of	wds:Q55780466-0F4BB284-30E0-4332-8B2D-3B40FDCCE1BD wds:Q55780466-1710563E-EBAF-4245-8AFD-3300AFAC80E3
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55780466-07B97E95-BE93-4647-9433-421BF51F5ED9 wds:Q55780466-08E46393-876F-4188-8BFA-8DC5C1EFE5EB wds:Q55780466-FD4790A7-7E5E-4230-BEEA-45B5B90866EC
subclass of	genetic peripheral neuropathy multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis
Orphanet ID	wds:Q55780466-AC541840-712D-42F2-9EFE-AF191C74371B
ICD-10-CM	wds:Q55780466-D741324C-A549-4533-BEAF-9207661F359E
GARD rare disease ID	wds:Q55780466-1A3E8B12-E7EE-4C0B-B924-B2F2C2186D5A
OMIM ID	wds:Q55780466-E8011EFA-3211-4A25-B3FB-84720EC836EA
Orphanet ID	2674
ICD-10-CM	Q87.8
GARD rare disease ID	9487
OMIM ID	123853
skos:altLabel	CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME (en) Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects (en)
UMLS CUI	wds:Q55780466-61223799-17B9-4EDD-B283-8EE21A61BAAC
MeSH descriptor ID	wds:Q55780466-7299E696-095F-4DF4-8E6B-18464F4A010A
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536229
UMLS CUI	C1852396
MeSH descriptor ID	C536229
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55780466 Cyprus facial neuromusculoskeletal syndrome

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