About: hand-foot-genital syndrome

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

autosomal dominant human genetic disease characterized by limb malformations (e.g. bilateral shortening of thumbs/big toes) and urogenital defects (e.g. abnormalities of ureters/urethra; incomplete Müllerian fusion in females; hypospadias in males)

Attributes	Values
rdf:type	Item
description	Krankheit (de) malattia (it) مرض يصيب الإنسان (ar) хвороба (uk) autosomal dominant human genetic disease characterized by limb malformations (e.g. bilateral shortening of thumbs/big toes) and urogenital defects (e.g. abnormalities of ureters/urethra; incomplete Müllerian fusion in females; hypospadias in males) (en)
exact match	wds:Q3508764-78473220-618F-4138-AEAB-F498283F6514 wds:Q3508764-D34DFC65-FEC8-4ADF-9690-C48F186A616C wds:Q3508764-DF012C8E-2A07-47F8-8082-5F7BA4FD24E5
exact match	http://purl.obolibrary.org/obo/DOID_0060739 http://identifiers.org/doid/DOID:0060739 http://www.orpha.net/ORDO/Orphanet_2438
health specialty	wds:Q3508764-9AFB5C17-00F0-4033-A07E-654D7077E2B2
Mondo ID	wds:Q3508764-5462E963-28D0-419E-908C-55DA13263725
Disease Ontology ID	wds:Q3508764-1BCD553A-739B-4D7A-B246-945C82683371
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007698
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060739
health specialty	medical genetics
Mondo ID	MONDO_0007698
Disease Ontology ID	DOID:0060739
rdfs:label	hand-foot-genital syndrome (en) mana-pieda-seksorgana sindromo (eo) syndrome main pied utérus (fr) 手足生殖器综合征 (zh) متلازمة اليد-القدم-الأعضاء التناسلية (ar)
skos:prefLabel	hand-foot-genital syndrome (en) mana-pieda-seksorgana sindromo (eo) syndrome main pied utérus (fr) 手足生殖器综合征 (zh) متلازمة اليد-القدم-الأعضاء التناسلية (ar)
name	hand-foot-genital syndrome (en) mana-pieda-seksorgana sindromo (eo) syndrome main pied utérus (fr) 手足生殖器综合征 (zh) متلازمة اليد-القدم-الأعضاء التناسلية (ar)
instance of	wds:Q3508764-1DF8CA67-4EB7-4191-8B9A-D4119BB87AD6 wds:Q3508764-472D27AF-648F-46BA-B5D0-6079D63E1682 wds:Q3508764-68020333-0FC3-45C2-AB4D-7211430A00A4
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q3508764-0352ED09-BA7C-41FA-B8B1-628C82258975 wds:Q3508764-383A7CE2-036D-409E-998A-D4EDD8BBC5B9 wds:Q3508764-654830E6-67AD-4329-A94E-293C9F0CAF5B wds:Q3508764-947B9016-39AA-4CE0-96F7-7B852FD3F1FC wds:Q3508764-CB62A1BA-022F-4DB5-B055-58D40DE37A7C wds:Q3508764-F4351938-0173-4990-8799-1C801AD8CF64
subclass of	syndrome rare genetic gynecological and obstetrical diseases autosomal dominant disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndrome with brachydactyly syndromic uterovaginal malformation
KEGG ID	wds:Q3508764-CEDC69EC-658D-4026-9D0A-F79B2CBE399A
KEGG ID	http://www.kegg.jp/entry/H00460
KEGG ID	H00460
UniProt disease ID	wds:Q3508764-0bfaaaaf-4b85-8e02-89c2-bda92f7dbbfc
Orphanet ID	wds:Q3508764-707F8B90-79C3-49A1-9326-A7E649F42E31
ICD-9-CM	wds:Q3508764-4AD65C23-14D2-4E0E-AE2B-AC59E0C59059
genetic association	wds:Q3508764-04C4CDC1-C25E-44E5-9966-26DC0B4C8A78
ICD-10-CM	wds:Q3508764-BD4B398E-50AC-464E-9AE6-409E80B96C55
GARD rare disease ID	wds:Q3508764-554A479C-C835-4397-B1C9-889CFB025F64
OMIM ID	wds:Q3508764-C314AB29-4A76-4BAA-B0D6-B81B54C26768
Genetics Home Reference Conditions ID	wds:Q3508764-571FE924-F545-417C-83BF-979B1F9E8F76
UniProt disease ID	DI-01694
Orphanet ID	2438
ICD-9-CM	759.89
genetic association	HOXA13
ICD-10-CM	Q51.2
GARD rare disease ID	2594
OMIM ID	140000
Genetics Home Reference Conditions ID	hand-foot-genital-syndrome
skos:altLabel	HFG (en) HAND-FOOT-GENITAL SYNDROME; HFG (en) HFGS (en) Syndrome main pied uterus (fr) hand-foot-uterus syndrome (en)
UMLS CUI	wds:Q3508764-6A9EF598-FE2F-4595-9FB1-53909F4750E9
MeSH descriptor ID	wds:Q3508764-F08A38DD-2643-4816-950C-74D04F5E990C
on focus list of Wikimedia project	wds:Q3508764-A4CEA4AE-A01A-4CAE-83A9-5FB491266FD1
MedlinePlus ID	wds:Q3508764-59DC8F1E-5E33-499E-ABA6-7FA603638BCF
Microsoft Academic ID	wds:Q3508764-EB9B83FA-F809-447B-AF9E-1EBC0D75127D
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535627
Microsoft Academic ID	https://makg.org/entity/2779003339
UMLS CUI	C1841679
MeSH descriptor ID	C535627
on focus list of Wikimedia project	WikiProject Medicine
MedlinePlus ID	140000
Microsoft Academic ID	2779003339
is owl:sameAs of	hand-foot-genital syndrome hand-foot-genital syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q3508764 Hand-foot-genital syndrome https://zh.wikipedia.org/wiki/%E6%89%8B%E8%B6%B3%E7%94%9F%E6%AE%96%E5%99%A8%E7%BB%BC%E5%90%88%E5%BE%81 https://fr.wikipedia.org/wiki/Syndrome_main_pied_ut%C3%A9rus https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%A7%D9%84%D9%8A%D8%AF-%D8%A7%D9%84%D9%82%D8%AF%D9%85-%D8%A7%D9%84%D8%A3%D8%B9%D8%B6%D8%A7%D8%A1_%D8%A7%D9%84%D8%AA%D9%86%D8%A7%D8%B3%D9%84%D9%8A%D8%A9
is main subject of	The hand-foot-genital syndrome: on the variable expression in affected males. Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli The hand-foot-genital (hand-foot-uterus) syndrome: family report and update Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation

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