About: Fraser syndrome

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autosomal recessive congenital disorder

Attributes	Values
rdf:type	Item
description	maladie rare (fr) autosomal recessive congenital disorder (en)
exact match	wds:Q1425572-23DE868E-8BDE-4507-AB51-9AD8BDF74933 wds:Q1425572-5CE1002A-FC6F-433A-A2D7-ADED4B3B5F5C wds:Q1425572-EBC9740F-915F-44B4-B061-32F7DC2F4255
exact match	http://identifiers.org/doid/DOID:0090001 http://purl.obolibrary.org/obo/DOID_0090001 http://www.orpha.net/ORDO/Orphanet_2052
health specialty	wds:Q1425572-7D96CE77-7FB2-4E31-BE3A-99F63B5FD71E
Mondo ID	wds:Q1425572-5E979662-EE1B-4AC8-8A1C-1555DC91F78B
DiseasesDB	wds:q1425572-92ECBF89-B980-47E4-9534-D8E39B5C1ECF
Disease Ontology ID	wds:Q1425572-0809DD60-6298-4E3E-AB5B-766B3DD6C14E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009046
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090001
health specialty	medical genetics
Mondo ID	MONDO_0009046
DiseasesDB	32241
Disease Ontology ID	DOID:0090001
rdfs:label	Fraser syndrome (en) Fraser sendromu (tr) Fraser-Syndrom (de) Fraserin oireyhtymä (fi) Zespół Frasera (pl) sindromo de Fraser (eo) syndrome de Fraser (fr) Синдром Фрейзера (ru) متلازمة فرسر (ar) フレイザー症候群 (ja)
skos:prefLabel	Fraser syndrome (en) Fraser sendromu (tr) Fraser-Syndrom (de) Fraserin oireyhtymä (fi) Zespół Frasera (pl) sindromo de Fraser (eo) syndrome de Fraser (fr) Синдром Фрейзера (ru) متلازمة فرسر (ar) フレイザー症候群 (ja)
name	Fraser syndrome (en) Fraser sendromu (tr) Fraser-Syndrom (de) Fraserin oireyhtymä (fi) Zespół Frasera (pl) sindromo de Fraser (eo) syndrome de Fraser (fr) Синдром Фрейзера (ru) متلازمة فرسر (ar) フレイザー症候群 (ja)
Freebase ID	wds:Q1425572-1CD8DC37-BDDE-4946-BE9D-4908BC96B6BE
Freebase ID	/m/07wtzn
instance of	wds:Q1425572-1B8C5AFD-D338-4EB4-98DF-DA5E923570E9 wds:Q1425572-369AC955-3B7D-47FC-B741-CDB1DF7E388A wds:Q1425572-FDF73FF1-E72C-4B09-AEED-67116C95BA37
instance of	class of disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q1425572-081E82FD-D80B-43B1-95C6-3E6FC2172C07 wds:Q1425572-406C1E79-C3AD-4B26-A37A-3B12D9DF47A5 wds:Q1425572-6e41dcdd-4162-7af9-fc3f-4c5476da7731 wds:Q1425572-9EAB9DA5-EF82-425E-AC8B-25FE199E1752 wds:Q1425572-A3989162-EEA6-4CE1-BAEE-E7E2D706DC6C wds:Q1425572-A832967D-AF44-4F22-BEEB-A11E13769173 wds:Q1425572-D3D9E1C4-5C81-449E-892B-01E97DB3426F wds:Q1425572-FD29BD7D-2036-49A4-9084-0C78DD85692A
subclass of	cryptophthalmos syndrome syndromic developmental defect of the eye autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic genetic deafness syndromic renal or urinary tract malformation syndromic anorectal malformation
KEGG ID	wds:Q1425572-FF8144EA-5131-4194-99A5-6B6919AB57E4
KEGG ID	http://www.kegg.jp/entry/H00687
KEGG ID	H00687
Orphanet ID	wds:Q1425572-6A915521-B148-46D4-9E88-984BB8EDE98F
genetic association	wds:Q1425572-0570B90B-7D48-4DF1-B4BC-58FFC668364D wds:Q1425572-C964C12D-DB18-4478-B9FF-4CC1BEEA35B0 wds:Q1425572-CFD6A512-7C03-41FA-BA42-2D5DD684A92D
ICD-10-CM	wds:Q1425572-D4A95115-C841-43AE-B852-05621EF19C1F
GARD rare disease ID	wds:Q1425572-A3D1B4B1-07AE-4BCC-B149-63D9B696C808
OMIM ID	wds:Q1425572-AB97937F-1533-47E0-9BDD-74EB1BB60B0B
Genetics Home Reference Conditions ID	wds:Q1425572-259B0FD9-189D-41AC-97F9-8E73FE10514E
Orphanet ID	2052
genetic association	FREM2 FRAS1 GRIP1
ICD-10-CM	Q87.0
GARD rare disease ID	6465
OMIM ID	219000
Genetics Home Reference Conditions ID	fraser-syndrome
named after	wds:Q1425572-f686f4d9-4e50-d757-758c-46c6677259ea
named after	George R. Fraser
Commons category	wds:Q1425572-FE90E1AF-F7E5-414F-AB32-C3D1F5AB519F
Commons category	Fraser syndrome
skos:altLabel	Cryptophthalmos syndrome (en) Cryptophthalmos-Syndactyly Syndrome (en) Cyclopism (en) FRASER SYNDROME (en)

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