About: Emanuel syndrome

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medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	Emanuel syndrome
description	medical condition (en) медичний стан (uk) kromozom anomalisi sendromu (tr) zdravstveno stanje (bs)
exact match	wds:Q5369177-30752457-CAFB-4BEB-A8E3-7FD47248626B
exact match	http://www.orpha.net/ORDO/Orphanet_96170
Mondo ID	wds:Q5369177-E272DE85-3EB9-4717-8578-8D167483C640
DiseasesDB	wds:q5369177-79AE1DA0-6F0F-400B-8004-172782041310
symptoms and signs	wds:Q5369177-2632a24a-4ec4-0409-c8e0-8fb710f6a28c wds:Q5369177-4b306d0f-4caa-7be0-e625-ea39c7bdbbdc wds:Q5369177-c8357092-4037-baa0-fc0f-8d0308c00411 wds:Q5369177-e1356df8-4ee6-7dbf-c38d-238cd773c970
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012176
Mondo ID	MONDO_0012176
DiseasesDB	34403
symptoms and signs	cleft lip and cleft palate hypotonia congenital heart disease idiot
rdfs:label	Emanuel syndrome (en) Emanuel sendromu (tr) Emanuelov sindrom (bs) syndrome d'Emanuel (fr) متلازمة إيمانويل (ar)
skos:prefLabel	Emanuel syndrome (en) Emanuel sendromu (tr) Emanuelov sindrom (bs) syndrome d'Emanuel (fr) متلازمة إيمانويل (ar)
name	Emanuel syndrome (en) Emanuel sendromu (tr) Emanuelov sindrom (bs) syndrome d'Emanuel (fr) متلازمة إيمانويل (ar)
instance of	wds:Q5369177-6EB3DB97-B74C-43DF-9525-95680BF24B60 wds:Q5369177-9CE7D057-139D-4544-BD5A-0689B984ABC2 wds:Q5369177-D7311758-C218-4A37-9BC0-D55AD3E402C2
instance of	class of disease designated intractable/rare disease developmental defect during embryogenesis
subclass of	wds:Q5369177-A1C0940C-CAAE-47B6-8E7F-68238D0BF60F wds:Q5369177-E06EA1BD-42DF-4040-BBA1-AF4CF10DB686 wds:Q5369177-F4F06E78-8DC8-4B2C-B8B2-B1CD0CBF6AA5 wds:Q5369177-b6398dac-4207-1c94-5fde-3babd7bb9af8
subclass of	chromosome abnormality syndromic diaphragmatic or abdominal wall malformation syndromic diaphragmatic or thoracic malformation complex chromosomal rearrangement
KEGG ID	wds:Q5369177-8AA9167A-5C86-41A4-BB9C-AC2F24A93CD4
KEGG ID	http://www.kegg.jp/entry/H01790
KEGG ID	H01790
Orphanet ID	wds:Q5369177-6e7e7dd8-4d4b-4222-bc87-620f2fca43bb
ICD-9-CM	wds:Q5369177-65D4BB0D-0C65-4D16-8B79-49ACBDEAFD04
ICD-10-CM	wds:Q5369177-2853A68E-6335-4491-8F79-A0A50AD719C2
GARD rare disease ID	wds:Q5369177-6354172B-7C32-4B7F-813E-92475AA3D68B
OMIM ID	wds:q5369177-65bcd465-4c7c-ed63-3e9e-630048ca409c
Genetics Home Reference Conditions ID	wds:Q5369177-28B025AA-A1E9-4F81-8AE4-9B2BAFD30505
Orphanet ID	96170
ICD-9-CM	758.5
ICD-10-CM	Q92.6
GARD rare disease ID	9835
OMIM ID	609029
Genetics Home Reference Conditions ID	emanuel-syndrome
skos:altLabel	Der(22)t(11;22) syndrome (en) Derivative 22 syndrome (en) EMANUEL SYNDROME (en) Supernumerary Der(22)T(11 (en) Supernumerary der(22) syndrome (en) Supernumerary der(22),t(11;22) syndrome (en)
external data available at URL	wds:Q5369177-58DFC5C2-03BE-47E2-B439-37947A335780
UMLS CUI	wds:Q5369177-2f2cb3b2-4183-fa20-02fb-e82ffb2ec007
MeSH descriptor ID	wds:Q5369177-a0c42388-46d2-da48-8a7d-17b33fa0c0ff
Microsoft Academic ID	wds:Q5369177-BCF7CF34-6BB5-4E93-AD24-ABB1625D8853
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535733
Microsoft Academic ID	https://makg.org/entity/2780480451
external data available at URL	http://www.nanbyou.or.jp/entry/4609
UMLS CUI	C1836929
MeSH descriptor ID	C535733
Microsoft Academic ID	2780480451
WikiProjectMed ID	wds:Q5369177-5F6A7F80-0B77-4531-A867-BD23D8A367B8
WikiProjectMed ID	Emanuel syndrome
is about of	Emanuel syndrome https://www.wikidata.org/wiki/Special:EntityData/Q5369177 Emanuel syndrome https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%A5%D9%8A%D9%85%D8%A7%D9%86%D9%88%D9%8A%D9%84 https://bs.wikipedia.org/wiki/Emanuelov_sindrom https://tr.wikipedia.org/wiki/Emanuel_sendromu
is main subject of	Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Emanuel Syndrome (ES): new case-report and review of the literature Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome Prevalence of Emanuel syndrome: theoretical frequency and surveillance result Derivative 11;22 (emanuel) syndrome: a case report and a review Lipodermoid in a patient with Emanuel syndrome Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. Neuroimaging findings in Emanuel Syndrome A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

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