About: Perlman syndrome

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A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.

Attributes	Values
rdf:type	Item
owl:sameAs	Perlman syndrome
description	Krankheit (de) хвороба (uk) rara patologia genetica congenita (it) A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (en)
exact match	wds:Q7169165-0315860E-62D4-4F63-9A31-650E8B38ED70 wds:Q7169165-AD0B16B1-A76B-48CE-A829-7898BAC61032 wds:Q7169165-EE705D66-9D1F-4B0B-BDFD-F65C2D177998
exact match	http://purl.obolibrary.org/obo/DOID_0060476 http://identifiers.org/doid/DOID:0060476 http://www.orpha.net/ORDO/Orphanet_2849
health specialty	wds:Q7169165-C8EEFCCF-9B67-4C10-987C-FF17D0C63782
Mondo ID	wds:Q7169165-128C2B14-3292-44CD-AAF1-CADB15BDE156
Disease Ontology ID	wds:Q7169165-E8785E7A-7C1D-4B99-B15D-96E1FC773D27
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009965
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060476
health specialty	oncology
Mondo ID	MONDO_0009965
Disease Ontology ID	DOID:0060476
rdfs:label	Perlman syndrome (en) Perlman-Syndrom (de) Perlmanin oireyhtymä (fi) Síndrome de Perlman (pt) Zespół Perlmana (pl) sindrome di Perlman (it) syndrome de Perlman (fr)
skos:prefLabel	Perlman syndrome (en) Perlman-Syndrom (de) Perlmanin oireyhtymä (fi) Síndrome de Perlman (pt) Zespół Perlmana (pl) sindrome di Perlman (it) syndrome de Perlman (fr)
name	Perlman syndrome (en) Perlman-Syndrom (de) Perlmanin oireyhtymä (fi) Síndrome de Perlman (pt) Zespół Perlmana (pl) sindrome di Perlman (it) syndrome de Perlman (fr)
instance of	wds:Q7169165-8FD89E45-0D81-4A10-B70B-684127511BC1 wds:Q7169165-C5455F8D-795E-46F1-975C-4C96BD29CD5D wds:Q7169165-FB356DE8-3D98-4187-8B10-90AACEDE9EF7
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q7169165-329B507A-359B-47D3-8A59-84A6214E8667 wds:Q7169165-59E05DB1-C12A-43B1-91FC-8930CB504454 wds:Q7169165-8BAAFCD0-CF24-4BB8-A0D8-BD1E0F225E84 wds:Q7169165-E96FE30A-6A58-4DAB-B569-205E14B7C6E8
subclass of	overgrowth syndrome syndrome disease polymalformative genetic syndrome with increased risk of developing cancer
KEGG ID	wds:Q7169165-7B5E281C-9530-46B8-81AE-BA13D274EDB1
KEGG ID	http://www.kegg.jp/entry/H01412
KEGG ID	H01412
UniProt disease ID	wds:Q7169165-e0c047e2-4a50-4e5e-db10-19f23dc4654a
Orphanet ID	wds:Q7169165-EE7754AD-2C5D-4818-8535-5D2C30A37759
genetic association	wds:Q7169165-6378D0E8-9316-4210-8CC0-A63D1B9E681D
ICD-10-CM	wds:Q7169165-8D797FB1-DCB6-4213-A0F2-74E788EB1F8A
GARD rare disease ID	wds:Q7169165-69234FA4-DD00-4DE9-A737-2A66DCEAC60F
OMIM ID	wds:Q7169165-CF5A9830-5715-49F0-ADD8-A2049DAEAF11
UniProt disease ID	DI-03413
Orphanet ID	2849
genetic association	DIS3L2
ICD-10-CM	Q87.3
GARD rare disease ID	3936
OMIM ID	267000
skos:altLabel	PERLMAN SYNDROME (en) PERLMAN SYNDROME; PRLMNS (en) PRLMNS (en) Perlmanin syndrooma (fi) Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor (en) nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor (en) renal hamartomas, nephroblastomatosis and fetal gigantism (en) Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism (en) Nephroblastomatosis fetal ascites macrosomia and wilms tumor (en) Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (en) nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor (en) Néphroblastomatose, ascite foetale , macrosomie et tumeur de Wilms (fr)
NCI Thesaurus ID	wds:Q7169165-07169120-4e02-2608-5fb5-f2fe51ea06c6
UMLS CUI	wds:Q7169165-1893D395-7553-496E-836A-5D2CD702C7C1
MeSH descriptor ID	wds:Q7169165-FE90F03A-05BF-429D-9A64-0403E8BFCB1F
on focus list of Wikimedia project	wds:Q7169165-35F99D18-6291-4CA0-94C9-AD3F9F4A82D4
Microsoft Academic ID	wds:Q7169165-35E4F4C3-E103-4C2B-B798-49952B8AE720
ICD-11 (foundation)	wds:Q7169165-19a9e721-4ef3-3f30-2f3a-cee377395a73
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536399
Microsoft Academic ID	https://makg.org/entity/2777452252
NCI Thesaurus ID	C103144
UMLS CUI	C0796113
MeSH descriptor ID	C536399
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2777452252
ICD-11 (foundation)	795682441
is owl:sameAs of	Perlman syndrome
is about of	Perlman syndrome https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Perlmana https://www.wikidata.org/wiki/Special:EntityData/Q7169165

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