About: acromelic frontonasal dysostosis

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

dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations (en)
exact match	wds:Q21124508-29FA9BAD-4AD2-4A56-96A3-3EC1E08A32D3 wds:Q21124508-3C1333B0-93C6-4523-83DD-934E03382AEE wds:Q21124508-6E6078D6-6C97-457B-9851-75ECC298729F
exact match	http://purl.obolibrary.org/obo/DOID_0060342 http://identifiers.org/doid/DOID:0060342 http://www.orpha.net/ORDO/Orphanet_1827
Mondo ID	wds:Q21124508-7CCD82BA-72F9-4A23-8181-0A422975DDE5
Disease Ontology ID	wds:Q21124508-D2B2DFB4-E513-4E55-9799-C13E2CFCD647
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011359
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060342
Mondo ID	MONDO_0011359
Disease Ontology ID	DOID:0060342
rdfs:label	Akromelik frontonazal disostoz (tr) Toriello-Syndrom (de) acromelic frontonasal dysostosis (en) dysplasie fronto-nasale acromélique (fr)
skos:prefLabel	Akromelik frontonazal disostoz (tr) Toriello-Syndrom (de) acromelic frontonasal dysostosis (en) dysplasie fronto-nasale acromélique (fr)
name	Akromelik frontonazal disostoz (tr) Toriello-Syndrom (de) acromelic frontonasal dysostosis (en) dysplasie fronto-nasale acromélique (fr)
instance of	wds:Q21124508-01BF54B8-A284-48B9-8F52-8DE90D57DFE0 wds:Q21124508-B01D2418-33A5-4EAC-9941-00302AD274A6 wds:Q21124508-D8D9E360-8CAA-48B4-84D2-D4B7D6BA741B
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q21124508-64880f3b-4709-32c6-79ac-3f9e4114c89e wds:Q21124508-FE294225-013D-4E08-A2A4-A22EF7223ACD
subclass of	midface dysplasia dysostosis
KEGG ID	wds:Q21124508-AD05ACCA-B4BD-4DF2-8AB6-2B273AA92AE6
KEGG ID	http://www.kegg.jp/entry/H02210
KEGG ID	H02210
UniProt disease ID	wds:Q21124508-150b0ea5-4c10-5571-8aaa-9e1ad4481977
Orphanet ID	wds:Q21124508-2db5d2ee-4ebd-46e3-8383-c187bc1cda46
genetic association	wds:Q21124508-B3059955-315B-4C79-A79D-EA8B52723B85
ICD-10-CM	wds:Q21124508-43D7DC13-1A07-4A66-B23B-EEE57BF9E2FF
GARD rare disease ID	wds:Q21124508-8A6BFDE1-5B29-4C44-8F2C-AD1B8CE17104 wds:Q21124508-E7C34F56-D9CF-422B-9555-99644ADE51A6
OMIM ID	wds:Q21124508-03CE1FFF-E0F1-4AC5-9C1B-B2905D67D4CE
UniProt disease ID	DI-04203
Orphanet ID	1827
genetic association	ZSWIM6
ICD-10-CM	Q75.8
GARD rare disease ID	2393 5539
OMIM ID	603671
skos:altLabel	AFND (en) Acromelic frontonasal dysostosis (en) ACROMELIC FRONTONASAL DYSOSTOSIS; AFND (en) Acromelic frontonasal dysplasia (en) Frontonasal dysplasia acromelic (en) Toriello syndrome (en)
UMLS CUI	wds:Q21124508-2AA94F01-5C8E-48FE-9C46-F11F750A8E80 wds:Q21124508-DF652CD1-54A3-4D0A-97D8-FE1ACB751F71
MeSH descriptor ID	wds:Q21124508-082b3e74-489d-0261-49f9-b4f0c9df6915 wds:Q21124508-5044c849-4043-281a-623b-e3dd204677bc wds:Q21124508-AB322E69-B5A7-4E19-BA98-ADC6A524E1EA
on focus list of Wikimedia project	wds:Q21124508-6EE0DBE6-1639-4C51-B8BF-37C8DD79A562
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535657 http://id.nlm.nih.gov/mesh/C566345
UMLS CUI	C0796182 C1863616
MeSH descriptor ID	C535657 C566345
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	acromelic frontonasal dysostosis acromelic frontonasal dysostosis
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q21124508 https://de.wikipedia.org/wiki/Toriello-Syndrom https://tr.wikipedia.org/wiki/Akromelik_frontonazal_disostoz
is main subject of	Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance
is main subject of	wds:Q37260697-923C9579-85E0-4881-BB2D-F090C3D814A1 wds:Q80360595-4003CC4B-53F0-4142-80CE-7F248E21AD7E wds:Q29144905-7B52086C-D8BF-4B4E-B23E-EA789D75C056
is genetic association of	ZSWIM6
is genetic association of	wds:Q18044428-708C868A-D429-4D10-86AE-48F9B679C0E9

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