About: Simpson-Golabi-Behmel syndrome

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About: Simpson-Golabi-Behmel syndrome Goto Sponge NotDistinct Permalink

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X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

Attributes	Values
rdf:type	Item
owl:sameAs	Simpson-Golabi-Behmel syndrome
description	Krankheit (de) хвороба (uk) X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities (en) rara sindrome neonatale (it)
exact match	wds:Q478891-69037F89-BF9B-4250-8AEB-D5D05FEBE94A wds:Q478891-7DE6EFE6-3A7E-44FE-94F5-A01C1E8D385E wds:Q478891-C7890C31-884B-44EF-8C97-E98BECF1AA7B
exact match	http://identifiers.org/doid/DOID:0060248 http://purl.obolibrary.org/obo/DOID_0060248 http://www.orpha.net/ORDO/Orphanet_373
health specialty	wds:Q478891-FBC0A4E7-CABA-4CC7-B96A-7F3E796CEC4A
ICD-10	wds:q478891-1384F76F-8EEE-4497-ADEA-A797A667362E
Mondo ID	wds:Q478891-43652C29-BB25-4EFA-9CCD-6B3EBBDE52D5
DiseasesDB	wds:q478891-F6250E3B-8658-446F-92B3-F7ADF9707FBF
Disease Ontology ID	wds:Q478891-76F04ADC-EDA2-4FAC-9A4A-BC4F0E8B9D86
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010731
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060248
health specialty	medical genetics
ICD-10	Q87.0
Mondo ID	MONDO_0010731
DiseasesDB	32640
Disease Ontology ID	DOID:0060248
rdfs:label	متلازمة سمبسون غولابي بيهمل (ar) Simpson-Golabi-Behmel sendromu (tr) Simpson-Golabi-Behmel syndrome (en) Simpson-Golabi-Behmel-Syndrom (de) Simpson–Golabi–Behmel syndrome (nl) Simpson–Golabi–Behmelin oireyhtymä (fi) Simpson–Golabi–Behmelov sindrom (bs) Zespół Simpsona-Golabi-Behmel (pl) simpson-golabi-behmel syndrome (es) sindrome di Simpson-Golabi-Behmel (it) syndrome de Simpson-Golabi-Behmel (fr) シンプソン・ゴラビ・ベーメル症候群 (ja) سندرم سیمپسون–گلابی–بیمل (fa)
skos:prefLabel	متلازمة سمبسون غولابي بيهمل (ar) Simpson-Golabi-Behmel sendromu (tr) Simpson-Golabi-Behmel syndrome (en) Simpson-Golabi-Behmel-Syndrom (de) Simpson–Golabi–Behmel syndrome (nl) Simpson–Golabi–Behmelin oireyhtymä (fi) Simpson–Golabi–Behmelov sindrom (bs) Zespół Simpsona-Golabi-Behmel (pl) simpson-golabi-behmel syndrome (es) sindrome di Simpson-Golabi-Behmel (it) syndrome de Simpson-Golabi-Behmel (fr) シンプソン・ゴラビ・ベーメル症候群 (ja) سندرم سیمپسون–گلابی–بیمل (fa)
name	متلازمة سمبسون غولابي بيهمل (ar) Simpson-Golabi-Behmel sendromu (tr) Simpson-Golabi-Behmel syndrome (en) Simpson-Golabi-Behmel-Syndrom (de) Simpson–Golabi–Behmel syndrome (nl) Simpson–Golabi–Behmelin oireyhtymä (fi) Simpson–Golabi–Behmelov sindrom (bs) Zespół Simpsona-Golabi-Behmel (pl) simpson-golabi-behmel syndrome (es) sindrome di Simpson-Golabi-Behmel (it) syndrome de Simpson-Golabi-Behmel (fr) シンプソン・ゴラビ・ベーメル症候群 (ja) سندرم سیمپسون–گلابی–بیمل (fa)
Freebase ID	wds:Q478891-FB5CC0C0-1587-4635-9810-47A1BA68B00F
Freebase ID	/m/0bmrfz
instance of	wds:Q478891-37ECFAA5-D2EF-4881-A58A-D8BD8C5D62C6 wds:Q478891-ACD1BD01-0318-4EC9-8AD0-69743AE07469 wds:Q478891-DD557900-DACD-45E8-B566-DF0391809F36 wds:Q478891-F3E89C3D-C6B5-429C-B4E5-913B53D5EFE9
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q478891-05E4EE9A-882E-4189-AA40-222B7786C4B9 wds:Q478891-10B7C119-4894-4DD0-AD59-A3F2F4DE520A wds:Q478891-154F9AB3-7765-4DB5-A446-684F10A4B264 wds:Q478891-53FBFD98-3CAE-4633-98A4-BAFC0D1F0E67 wds:Q478891-70f0712f-49be-f8a7-b871-920270e9be7a wds:Q478891-7E49A6A9-4391-4798-B0F9-AF52BE26ABF0 wds:Q478891-94948D37-F1CD-48DD-B0FE-0DE9C6D7402A wds:Q478891-9930F5B9-0325-483B-AD13-927BE274D7C7 wds:Q478891-9CE080F9-C323-41B8-AF7B-EFB0AA388A8D wds:Q478891-A71E6A74-320C-408E-8809-C713D8E60880 wds:Q478891-C640B39F-3DCB-4090-857F-FA5C07A2D2F0 wds:Q478891-DA2E489B-7343-479D-B45E-7B6F18B39A1E
subclass of	overgrowth syndrome syndrome X-linked intellectual disability syndromic diaphragmatic or abdominal wall malformation syndromic diaphragmatic or thoracic malformation polymalformative genetic syndrome with increased risk of developing cancer macroglossia X-linked recessive disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndrome or malformation associated with head and neck malformations rare genetic bone disease syndromic renal or urinary tract malformation
KEGG ID	wds:Q478891-8537B65E-A402-4309-8F32-26107CF7ECE9
KEGG ID	http://www.kegg.jp/entry/H01215
KEGG ID	H01215

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