About: craniofrontonasal dysplasia

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

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) Krankheit (de) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q5182141-01CC4635-73D3-420B-A027-332175960D66 wds:Q5182141-1A188063-6B93-4653-A027-B251ADD4A82E wds:Q5182141-6A75E057-49AF-4A5D-B27D-9994A010257A
exact match	http://purl.obolibrary.org/obo/DOID_14737 http://identifiers.org/doid/DOID:14737 http://www.orpha.net/ORDO/Orphanet_1520
health specialty	wds:Q5182141-E96049E4-D39D-4A86-8147-FAB7421A1EB1
ICD-10	wds:Q5182141-fec75afd-4fe9-de9c-c147-51c78885a59a
Mondo ID	wds:Q5182141-85B1C786-8E55-48A9-976E-9D199711191C
Disease Ontology ID	wds:Q5182141-2CDD5F13-1F96-4C85-85A6-A1A8C2527929
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010570
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:14737
health specialty	medical genetics
ICD-10	Q87.1
Mondo ID	MONDO_0010570
Disease Ontology ID	DOID:14737
rdfs:label	Kranio-fronto-nasale Dysplasie (de) Kraniyofrontonazal sendromu (tr) craniofrontonasal dysplasia (en) dysplasie crânio-fronto-nasale (fr) خلل التنسج القحفي الجبهي الأنفي (ar)
skos:prefLabel	Kranio-fronto-nasale Dysplasie (de) Kraniyofrontonazal sendromu (tr) craniofrontonasal dysplasia (en) dysplasie crânio-fronto-nasale (fr) خلل التنسج القحفي الجبهي الأنفي (ar)
name	Kranio-fronto-nasale Dysplasie (de) Kraniyofrontonazal sendromu (tr) craniofrontonasal dysplasia (en) dysplasie crânio-fronto-nasale (fr) خلل التنسج القحفي الجبهي الأنفي (ar)
instance of	wds:Q5182141-1E86F6A3-F227-4937-AE26-571DD7B070C4 wds:Q5182141-54CEF3BD-9795-4ED4-AF14-9E43D9C1BA52 wds:Q5182141-D376E18B-816B-4BC5-872A-ECDA201637F9
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q5182141-0A1C8541-F761-4841-B020-6CA90F2FB39B wds:Q5182141-90e5ea67-4bd5-a898-cb0b-aeedab5eb656 wds:Q5182141-D0C11279-2500-48FB-BE2F-285E9732FE54
subclass of	midface dysplasia X-linked intellectual disability X-linked dominant disease
KEGG ID	wds:Q5182141-CF01A4F1-CCC8-4C94-AF18-57FE8AB4F666
KEGG ID	http://www.kegg.jp/entry/H01992
KEGG ID	H01992
UniProt disease ID	wds:Q5182141-3b0d8268-432c-5002-8e88-302884c35df6
Orphanet ID	wds:Q5182141-7a868576-477c-c0ef-b9df-f0c2d383d92b
genetic association	wds:Q5182141-3363E868-8412-4988-86DA-883E587A9FD6
ICD-10-CM	wds:Q5182141-795EF9EC-99E7-4EAC-A5DB-A64E91BED2C4
GARD rare disease ID	wds:Q5182141-F6483220-9939-4593-A8C0-0020EB50DA7D
OMIM ID	wds:Q5182141-19BC3716-FC11-4299-A2C0-3865C1992E19
UniProt disease ID	DI-01443
Orphanet ID	1520
genetic association	EFNB1
ICD-10-CM	Q87.1
GARD rare disease ID	1578
OMIM ID	304110
Commons category	wds:Q5182141-e0f7f232-900b-4c73-ab0f-13c87df60403
Commons category	Craniofrontonasal dysplasia
skos:altLabel	CFND (en) CFNS (en) Craniofrontonasal dysostosis (en) Craniofrontonasal syndrome (en)
UMLS CUI	wds:Q5182141-9C5AE11F-5069-4853-ABE2-79CC324780CA
MeSH descriptor ID	wds:Q5182141-A2181E53-1FB8-4257-9F47-1021D9F8D40F
on focus list of Wikimedia project	wds:Q5182141-F0B74295-0B82-4630-A1B7-1EF781753356
Microsoft Academic ID	wds:Q5182141-57A1D277-F785-4C78-B60E-800BF9722713
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536456
Microsoft Academic ID	https://makg.org/entity/2776765786
UMLS CUI	C0220767
MeSH descriptor ID	C536456
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2776765786
WikiProjectMed ID	wds:Q5182141-339A31A1-D239-495F-BC1B-E1F04369D54B
WikiProjectMed ID	Craniofrontonasal dysplasia
is owl:sameAs of	craniofrontonasal dysplasia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q5182141 Craniofrontonasal dysplasia https://de.wikipedia.org/wiki/Kranio-fronto-nasale_Dysplasie Category:Craniofrontonasal dysplasia https://ar.wikipedia.org/wiki/%D8%AE%D9%84%D9%84_%D8%A7%D9%84%D8%AA%D9%86%D8%B3%D8%AC_%D8%A7%D9%84%D9%82%D8%AD%D9%81%D9%8A_%D8%A7%D9%84%D8%AC%D8%A8%D9%87%D9%8A_%D8%A7%D9%84%D8%A3%D9%86%D9%81%D9%8A https://tr.wikipedia.org/wiki/Kraniyofrontonazal_sendromu
is of of	wds:Q97205407-01c1ce28-4abe-6bd2-0584-536aa1424768
is main subject of	Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations Craniofrontonasal dysplasia in two male sibs. Radiocephalometric findings in a family with craniofrontonasal dysplasia Craniofrontonasal dysplasia associated with Chiari malformation Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Craniofrontonasal dysplasia: clinical and genetic analysis Craniofrontonasal dysplasia: a surgical treatment algorithm New autosomal dominant syndrome resembling craniofrontonasal dysplasia Craniofrontonasal dysplasia in a three-generation kindred. Craniofrontonasal dysplasia: more severe expression in the mother than in her son

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