About: Emberger syndrome

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Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders

Attributes	Values
rdf:type	Item
owl:sameAs	Emberger syndrome
description	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders (en)
exact match	wds:Q55610804-026C3363-C72A-493D-A52F-D81E53F6D392
exact match	http://www.orpha.net/ORDO/Orphanet_3226
Mondo ID	wds:Q55610804-85C35BBF-078C-411C-81AB-701423E795BF
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013540
Mondo ID	MONDO_0013540
rdfs:label	Emberger syndrome (en) syndrome d'Emberger (fr)
skos:prefLabel	Emberger syndrome (en) syndrome d'Emberger (fr)
name	Emberger syndrome (en) syndrome d'Emberger (fr)
instance of	wds:Q55610804-1757FC07-43EA-495D-B42B-FD2BF14E2D75 wds:Q55610804-9B2D7C50-6D00-483F-821B-4FD4C4247667 wds:Q55610804-AD234778-A1E0-47BD-BFBE-F748B7BCDB44 wds:Q55610804-F85D9339-7A8D-44E7-AA1C-5996427B89E0
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q55610804-0573A1FC-52E1-485B-A68E-621F4BE1347D wds:Q55610804-0A51FBC4-3F9A-44D1-95AB-F53D1935B9E7 wds:Q55610804-5A2CCC87-861D-4FA6-B25D-84AE78C63E55 wds:Q55610804-AE28E9D5-5473-4CC0-8FA5-D92CD72B0AC1 wds:Q55610804-BC76A8B1-452D-44AA-9BDC-7F8CF68C9EAF wds:Q55610804-BFFAB475-2111-4DBB-B1AE-1EA97103F350 wds:Q55610804-EE7251F6-C605-46F8-9950-CB7CE7BC94DB wds:Q55610804-FD8577C5-FDD3-4CE5-ACD4-3984E7C3B58E wds:Q55610804-FE9E2AB5-33D9-4865-A221-F675F89CA23D wds:Q55610804-a98d8613-4b57-a25d-583f-cc1527689c01
subclass of	GATA2 deficiency rare genetic immune disease tumor of hematopoietic and lymphoid tissues head and neck cancer rare genetic vascular tumor syndromic genetic deafness genetic hematologic disease primary lymphedema with associated anomalies syndromic lymphedema rare nervous system tumor
Google Knowledge Graph ID	wds:Q55610804-A0124C26-235E-4C65-B5AA-A0B4CB616D5A
Google Knowledge Graph ID	http://g.co/kg/g/11f6157fmp
Google Knowledge Graph ID	/g/11f6157fmp
UniProt disease ID	wds:Q55610804-14a0018d-480d-1fbd-15af-7a51b09e3b12
Orphanet ID	wds:Q55610804-A9C731FF-4401-4894-8C1F-65E9A307773C
ICD-9-CM	wds:Q55610804-71486F34-808C-44B7-9208-1B518F4837B6
genetic association	wds:Q55610804-401DA7CC-2364-40E7-91E2-EE83F81EDE7E
ICD-10-CM	wds:Q55610804-AD806F97-A30C-4CB1-9675-C5E3B669A64C
GARD rare disease ID	wds:Q55610804-20703F1B-C99A-41F4-8519-CC575E707559
OMIM ID	wds:Q55610804-3321D065-A2B5-4076-9857-391E16B1711B
UniProt disease ID	DI-03299
Orphanet ID	3226
ICD-9-CM	757.0
genetic association	GATA2
ICD-10-CM	D46.7
GARD rare disease ID	13030
OMIM ID	614038
skos:altLabel	Deafness - lymphoedema - leukemia syndrome (en) Emberger Syndrome (en) LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (en) deafness-lymphedema-leukemia syndrome (en) surdité - lymphoedème - leucémie (fr)
UMLS CUI	wds:Q55610804-906DEBC8-CAB7-4DC9-9CE4-0AC1C2CB3BE6
ICD-11 (foundation)	wds:Q55610804-CC57BFFA-539B-4BC6-AB53-03F1FC528E62
UMLS CUI	C3279664
ICD-11 (foundation)	1818043307
WikiProjectMed ID	wds:Q55610804-779EF235-8483-459D-A0DD-6A5F68BAD8B5
WikiProjectMed ID	Emberger syndrome
is owl:sameAs of	Emberger syndrome
is about of	Emberger syndrome https://www.wikidata.org/wiki/Special:EntityData/Q55610804 Emberger syndrome
is main subject of	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. Emberger syndrome: A rare association with hearing loss A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome MG-116 Report of 2 families with emberger syndrome (GATA2 mutation): Recognition of variance in clinical phenotype allows detection prior to malignant presentation Familial emberger syndrome with autoimmunity, hyper-immunoglobulin E and lymphatic impairment caused by a novel GATA2 mutation
is main subject of	wds:Q55671562-B8C335E0-5EFA-4BBE-8D35-BC4DCE1E170B wds:Q43089162-314D55DE-E124-4190-8C96-4B82C49E8070 wds:Q49493490-520F8E5A-172E-4C31-97AB-9E5082FEDAC0 wds:Q88236075-E8C5CEED-DFE5-445F-B11C-8B8A1BA7561F wds:Q64048578-3CFD3C5D-38EC-42D1-9F05-BF79E4DF4D93 wds:Q95582683-21D6F89F-79F5-4A64-AEB7-D6D656A7FF42 wds:Q104608009-CDAE1500-7B84-4360-8FF6-B4FC0BC0A2A3 wds:Q59314233-85A0BCED-63B1-408F-9A7B-F3D1F32C0386 wds:Q96124174-F27648A3-0133-4A65-8B65-DE4D2BC57D03
is genetic association of	GATA2
is genetic association of	wds:Q18025461-C9B23D47-BDD6-4BFF-9F82-BF1E6769E34F

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