About: H syndrome

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H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the gene which encode the human equilibrative nucleoside transporter (hENT3) protein. It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	H-Syndrom (de) H syndrome (en)
rdfs:comment	H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the gene which encode the human equilibrative nucleoside transporter (hENT3) protein. It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (en) Das H-Syndrom, englisch histiocytosis-lymphadenopathy plus syndrome, ist eine sehr seltene angeborene Form einer systemischen Histiozytose mit den namensgebenden Hauptmerkmalen Hyperpigmentierung, Hypertrichose, Hepatosplenomegalie, Herzfehler, Hörverlust, Hypogonadismus und gelegentlich Hyperglykämie. Zu diesem Syndrom werden hinzugerechnet: * Pigmentierte Hypertrichose mit Insulin-abhängigem Diabetes mellitus-Syndrom (PHID) * Faisalabad-Histiocytose (FHC) * Familiäre Sinushistiocytose mit massiver Lymphadenopathie (FSHML) (de)
foaf:name	H syndrome (en)
name	H syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Genetic diseases and disorders Rare syndromes
Wikipage page ID	59275815 (xsd:integer)
Wikipage revision ID	1102217487 (xsd:integer)
Link from a Wikipage to another Wikipage	Autosomal recessive disorders Malabsorption Genetic diseases and disorders Rare syndromes Hepatosplenomegaly Hyperglycemia Hyperpigmentation Hypertrichosis Hypogonadism Diabetes mellitus type 1 Exophthalmos Hallux valgus dbr:SLC29A3
sameAs	H syndrome H syndrome H syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Primary_sources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
OMIM	602782 (xsd:integer)
caption	This condition is inherited in an autosomal recessive manner (en)
synonyms	Histiocytosis-lymphadenopathy plus syndrome (en)
has abstract	Das H-Syndrom, englisch histiocytosis-lymphadenopathy plus syndrome, ist eine sehr seltene angeborene Form einer systemischen Histiozytose mit den namensgebenden Hauptmerkmalen Hyperpigmentierung, Hypertrichose, Hepatosplenomegalie, Herzfehler, Hörverlust, Hypogonadismus und gelegentlich Hyperglykämie. Zu diesem Syndrom werden hinzugerechnet: * Pigmentierte Hypertrichose mit Insulin-abhängigem Diabetes mellitus-Syndrom (PHID) * Faisalabad-Histiocytose (FHC) * Familiäre Sinushistiocytose mit massiver Lymphadenopathie (FSHML) Die Bezeichnung H-Syndrom wurde im Jahre 2008 durch die Israelischen Hautärzte V. Molho-Pessach und Mitarbeiter vorgeschlagen. Die Erkrankung ist nicht zu verwechseln mit dem HHH-Syndrom (Triple-H-Syndrom). (de) H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the gene which encode the human equilibrative nucleoside transporter (hENT3) protein. It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (en)
prov:wasDerivedFrom	wikipedia-en:H_syndrome?oldid=1102217487&ns=0
page length (characters) of wiki page	4143 (xsd:nonNegativeInteger)
OMIM id	602782 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:H_syndrome
is Link from a Wikipage to another Wikipage of	Dysosteosclerosis Equilibrative nucleoside transporter 1
is foaf:primaryTopic of	wikipedia-en:H_syndrome

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