About: diaphragmatic defect-limb deficiency-skull defect syndrome

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About: diaphragmatic defect-limb deficiency-skull defect syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
exact match	wds:Q55782993-FBC65D0A-9177-412B-BECD-012E5FA6B8B5
exact match	http://www.orpha.net/ORDO/Orphanet_2141
Mondo ID	wds:Q55782993-14400974-A2CD-4CC8-9C27-5B303EFF8797
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011007
Mondo ID	MONDO_0011007
rdfs:label	diaphragmatic defect-limb deficiency-skull defect syndrome (en)
skos:prefLabel	diaphragmatic defect-limb deficiency-skull defect syndrome (en)
name	diaphragmatic defect-limb deficiency-skull defect syndrome (en)
instance of	wds:Q55782993-781C32B3-E6B6-4952-AE37-D510E98A23C5 wds:Q55782993-B745B3F3-B743-45A5-88FE-F8348F2752F2
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55782993-0574E93D-9FF1-469C-A336-03C5A343C05F wds:Q55782993-53FDE99C-62C3-4AFF-87D3-D3A5D12A9E61 wds:Q55782993-C9A16E1E-DB4E-4FD3-8392-C182389E58E8 wds:Q55782993-CF15BE34-CAD4-4501-940B-76017A28BD5D
subclass of	syndromic diaphragmatic or abdominal wall malformation syndromic diaphragmatic or thoracic malformation multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis
Orphanet ID	wds:Q55782993-79542B29-0CC7-4AC0-9CDE-DEB8A0925B1D
ICD-10-CM	wds:Q55782993-6531553A-E1A9-48F7-8749-413F630288B6
GARD rare disease ID	wds:Q55782993-7D5A5942-BBB9-4703-B982-06565BF8A5CE
OMIM ID	wds:Q55782993-6E7C2770-0585-4CF4-9F37-48387446B274
Orphanet ID	2141
ICD-10-CM	Q87.8
GARD rare disease ID	2397
OMIM ID	601163
skos:altLabel	Diaphragmatic defect limb deficiency skull defect (en) Froster Syndrome (en) Froster-Huch syndrome (en) DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL (en)
UMLS CUI	wds:Q55782993-8B64C348-7CC7-4651-A54C-0E096746C499 wds:Q55782993-D5FC5D2B-CB37-4659-8344-DD6DF8602C0D
MeSH descriptor ID	wds:Q55782993-A6F819E1-3B36-42FF-B6B3-D316DF2CBFEC
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C563380
UMLS CUI	C1832668 C4303589
MeSH descriptor ID	C563380
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55782993

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