About: iridogoniodysgenesis syndrome

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) malattia (it) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q17125601-6B6D043D-96D3-4A96-914A-97CCBFC595D0 wds:Q17125601-917C54B7-3840-411B-84FF-2723DD9107F6 wds:Q17125601-B933FB4B-DD3E-4401-92FA-0F2908B794D3 wds:Q17125601-C0821B04-3B00-4A7C-A432-70BADCF59D11
exact match	http://purl.obolibrary.org/obo/DOID_0050786 http://identifiers.org/doid/DOID:0050786 http://www.orpha.net/ORDO/Orphanet_91483 http://www.orpha.net/ORDO/Orphanet_98634
Mondo ID	wds:Q17125601-8F8E5603-6491-4861-8D58-9B1F059D102D
DiseasesDB	wds:Q17125601-AA6CEB2C-7217-454D-89EA-110F12C09756
Disease Ontology ID	wds:Q17125601-7081450C-83B0-4C5F-9CAC-E6430D159901
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007662
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050786
Mondo ID	MONDO_0007662
DiseasesDB	34611
Disease Ontology ID	DOID:0050786
rdfs:label	Síndrome de iridogoniodisgenesis-anomalías esqueléticas (es) iridogoniodysgenesis syndrome (en) iridogoniodysgénésie autosomique dominante (fr) 虹膜發育不良綜合徵 (zh)
skos:prefLabel	Síndrome de iridogoniodisgenesis-anomalías esqueléticas (es) iridogoniodysgenesis syndrome (en) iridogoniodysgénésie autosomique dominante (fr) 虹膜發育不良綜合徵 (zh)
name	Síndrome de iridogoniodisgenesis-anomalías esqueléticas (es) iridogoniodysgenesis syndrome (en) iridogoniodysgénésie autosomique dominante (fr) 虹膜發育不良綜合徵 (zh)
instance of	wds:Q17125601-1001B937-981F-402A-8A47-B37A11F5F6D6 wds:Q17125601-588FB338-BC4F-4557-8E72-C6450E3F7114 wds:Q17125601-A09963A6-0256-4907-B288-6112B322FFC4
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q17125601-13D90D15-D91F-419D-B612-ABF8CBC0F775 wds:Q17125601-E697589C-70D3-41CE-8379-3C7C3E788958
subclass of	iris disease autosomal dominant disease
UniProt disease ID	wds:Q17125601-d82f5a87-43b3-e676-6bea-e65db319a62e
Orphanet ID	wds:Q17125601-2032B495-640F-4B63-B8A6-5CD6A89259FA
genetic association	wds:Q17125601-39DF0753-B54A-4C56-A25A-A06F87B1E426 wds:Q17125601-CFA7DA3C-7C09-4DA1-917A-8CA4C98B61FD
OMIM ID	wds:Q17125601-6651E1D0-2B6F-49C2-9FB8-3E73338A8DA3 wds:Q17125601-ce3f661b-4330-aad9-e2d1-e3c0103976e4
UniProt disease ID	DI-01833
Orphanet ID	98634
genetic association	FOXC1 PITX2
OMIM ID	137600 601631
skos:altLabel	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 (en) ASGD4 (en) IGDS (en) IRID 1 (en) IRID 2 (en) IRID2 (en) IRIDOGONIODYSGENESIS, TYPE 2; IRID2 (en) Iridogoniodysgenesis Syndrome (en) Iridogoniodysgenesis, Type 2 (en) iridogoniodysgenesis type 1 (en) iridogoniodysgenesis type 2 (en) Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant (en)
UMLS CUI	wds:Q17125601-0B0FD73D-39C8-4471-984D-03710FE8D122 wds:Q17125601-367D7195-301E-4DD1-B003-F7329D708255
on focus list of Wikimedia project	wds:Q17125601-4BD3D813-130A-486B-8CDA-C41CDD136E60
UMLS CUI	C1842031 C5681672
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	iridogoniodysgenesis syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q17125601 Iridogoniodysgenesis, dominant type https://es.wikipedia.org/wiki/S%C3%ADndrome_de_iridogoniodisgenesis-anomal%C3%ADas_esquel%C3%A9ticas
is main subject of	Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome Histopathology and molecular basis of iridogoniodysgenesis syndrome Iridogoniodysgenesis syndrome: a case report.
is main subject of	wds:Q46143298-403C8F74-AFD7-4525-9487-12D8A8675FE0 wds:Q24322677-4915909C-CFCE-40FE-B1B1-923B917F5174 wds:Q78040701-EC5D5234-FD02-490F-82B2-CAAB048BE41F
is genetic association of	PITX2
is genetic association of	wds:Q18030562-8A537DDB-AB98-46EC-8EC3-9D58506A287B

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