About: Schilbach-Rott syndrome

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About: Schilbach-Rott syndrome Goto Sponge NotDistinct Permalink

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Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males

Attributes	Values
rdf:type	Item
description	Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males (en)
exact match	wds:Q55781295-A37E624C-C399-43EE-8453-08C645297E31
exact match	http://www.orpha.net/ORDO/Orphanet_2353
Mondo ID	wds:Q55781295-0D976112-09BF-46A5-975F-1721C040BFA0
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008113
Mondo ID	MONDO_0008113
rdfs:label	Schilbach-Rott sendromu (tr) Schilbach-Rott syndrome (en) syndrome de Schilbach-Rott (fr)
skos:prefLabel	Schilbach-Rott sendromu (tr) Schilbach-Rott syndrome (en) syndrome de Schilbach-Rott (fr)
name	Schilbach-Rott sendromu (tr) Schilbach-Rott syndrome (en) syndrome de Schilbach-Rott (fr)
instance of	wds:Q55781295-9E730D5E-BF32-485F-933A-486F0167DFBF wds:Q55781295-AC2056D9-198A-4AA7-BF3C-184A381B9D5C
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55781295-38D3794B-02A2-4522-9882-D792062822F7 wds:Q55781295-B1FE7364-0DAC-41CC-BE6A-D3EFF7141084
subclass of	multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic urogenital tract malformation
Orphanet ID	wds:Q55781295-D695FBD3-2B60-47FF-A9E3-B71F0871144D
ICD-10-CM	wds:Q55781295-572A1798-4225-4231-87EA-6520618B809A
GARD rare disease ID	wds:Q55781295-36FB36FC-DB94-4D3C-BE99-1917A6BED31E
OMIM ID	wds:Q55781295-9C6BBEA0-BF8F-4A3E-8C53-ABDEE213CD90
Orphanet ID	2353
ICD-10-CM	Q87.8
GARD rare disease ID	2930
OMIM ID	164220
skos:altLabel	BRSS (en) Blepharofacioskeletal syndrome (en) Cleft Palate, Hypotelorism, and Hypospadias (en) Hypotelorism cleft palate hypospadias (en) Hypotelorism-cleft palate-hypospadias syndrome (en) SCHILBACH-ROTT SYNDROME (en) Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (en)
UMLS CUI	wds:Q55781295-3A1C7044-D624-4D8C-AEE2-7345A9AE5EAA
MeSH descriptor ID	wds:Q55781295-B85DE589-64F0-4605-BC70-526E42F8DDC0
ICD-11 (foundation)	wds:Q55781295-2CAC86A9-78F6-43B2-83C1-739AEEB80FA5
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C563509
UMLS CUI	C1834038
MeSH descriptor ID	C563509
ICD-11 (foundation)	1481992489
is owl:sameAs of	Schilbach-Rott syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55781295 https://tr.wikipedia.org/wiki/Schilbach-Rott_sendromu
is main subject of	Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait. Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
is main subject of	wds:Q41939625-A41BFA22-343F-4557-8BF5-376F7F37DD28 wds:Q64039631-003A4104-2350-43C0-99B9-0DB7EA3209CA

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