About: multiple pterygium syndrome

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Human disease

Attributes	Values
rdf:type	Item
description	Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) genetisch bedingte Krankheit (de)
exact match	wds:Q16889762-67EB6934-58DC-429F-B272-9B3CCCD8CEA8 wds:Q16889762-6F8B7F21-C3F7-46AE-BDF4-A018A23EDE8B wds:Q16889762-AB9A769F-4EE6-4568-9643-C3EB9A617D0A
exact match	http://purl.obolibrary.org/obo/DOID_0080110 http://identifiers.org/doid/DOID:0080110 http://www.orpha.net/ORDO/Orphanet_2990
Mondo ID	wds:Q16889762-1D494CF5-2FDC-4045-99C8-0873242ECA97
Disease Ontology ID	wds:Q16889762-D4F07350-7239-4E77-AF46-FEAC7800DFEC
symptoms and signs	wds:Q16889762-92ad1065-45c6-1e10-677c-3ab895fe5536
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009926
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080110
Mondo ID	MONDO_0009926
Disease Ontology ID	DOID:0080110
symptoms and signs	pterygium
rdfs:label	Multiples Pterygium-Syndrom (de) Multipl pterygium sendromu (tr) Síndrome de Escobar (pt) Síndrome de pterigium múltiple (es) Zespół mnogich płetwistości (pl) multiple pterygium syndrome (en) syndrome des ptérygium multiples (fr) سندرم ناخنک چندگانه (fa) متلازمة الظفرة المتعددة (ar)
skos:prefLabel	Multiples Pterygium-Syndrom (de) Multipl pterygium sendromu (tr) Síndrome de Escobar (pt) Síndrome de pterigium múltiple (es) Zespół mnogich płetwistości (pl) multiple pterygium syndrome (en) syndrome des ptérygium multiples (fr) سندرم ناخنک چندگانه (fa) متلازمة الظفرة المتعددة (ar)
name	Multiples Pterygium-Syndrom (de) Multipl pterygium sendromu (tr) Síndrome de Escobar (pt) Síndrome de pterigium múltiple (es) Zespół mnogich płetwistości (pl) multiple pterygium syndrome (en) syndrome des ptérygium multiples (fr) سندرم ناخنک چندگانه (fa) متلازمة الظفرة المتعددة (ar)
instance of	wds:Q16889762-5B152A08-CDBA-47CD-80B6-B03604BFA4A8 wds:Q16889762-645B75DC-FDEE-47AA-A251-4B1F9854EF23 wds:Q16889762-71ef2443-458b-c8cc-9f9a-8cf2876c63ee wds:Q16889762-C0714CEB-DAD5-48D8-9FEB-8033F3EB1035 wds:Q16889762-E3B71129-D832-4611-8279-BCD92F85E4E6
instance of	class of disease rare disease genetic disease developmental defect during embryogenesis syndromic pterygium
subclass of	wds:Q16889762-1EBE95CA-2C11-4706-8526-A39BF76DCC5A wds:Q16889762-6C5620C1-0302-4B07-89F3-FEDD2FC3A89F wds:Q16889762-8636B882-0E7E-46A0-A5CD-D39A166776B0 wds:Q16889762-8C5C370B-4B0F-4093-A74D-974F3D3E4650 wds:Q16889762-B32ECFA5-D8FF-43C4-82D3-85F52414DC93 wds:Q16889762-E5B8BB9D-2E8B-43C6-B40D-6C7DB4D03356
subclass of	genetic disease syndrome monogenic disease disease autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability
KEGG ID	wds:Q16889762-EAF526B2-34A1-436D-8541-171C549FE371
KEGG ID	http://www.kegg.jp/entry/H00986
KEGG ID	H00986
Orphanet ID	wds:Q16889762-1D4476E2-0123-4A2A-BEA3-3455B8CECB95 wds:Q16889762-919644B9-6693-4DF9-A0C4-782EFE1C034D
ICD-9-CM	wds:Q16889762-73B33A4E-6779-4930-AF76-49830F4E0788
genetic association	wds:Q16889762-109A342A-8EF1-4CEE-BBB4-87BCC0957CB0 wds:Q16889762-2DF8E95A-8651-483E-9226-47C6AFA58CEF wds:Q16889762-77DA57FC-7BBD-44E5-BD42-37CD1E8D025E wds:Q16889762-C1EA502F-8EA0-4573-93CF-009EE292A79E
ICD-10-CM	wds:Q16889762-D5ECF82C-B496-4209-AC4F-25972302AC57
GARD rare disease ID	wds:Q16889762-F89608C0-1322-47F6-AE10-A2915E2770FC
OMIM ID	wds:Q16889762-54ADAA46-4D38-4ADE-8B7A-F2A63DBCBC5D wds:Q16889762-A1C65729-3151-4B2E-BAC6-3D6C597FB598 wds:Q16889762-E8B54E50-43E3-4781-91E3-CCF0A37E525A wds:Q16889762-F26AFFC3-9ECB-4139-8443-5EC5E894F5DD
Genetics Home Reference Conditions ID	wds:Q16889762-930CDB06-2096-47CD-A05C-C36A27FEB75F
Orphanet ID	2990 294060
ICD-9-CM	759.89
genetic association	CHRNA1 CHRNG CHRND MYH3
ICD-10-CM	Q79.8
GARD rare disease ID	7111
OMIM ID	178110 253290 312150 265000
Genetics Home Reference Conditions ID	multiple-pterygium-syndrome

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