About: Limb–mammary 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	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) angeborene Erkrankung mit schweren Fehlbildungen von Fuß und Hand (de)
exact match	wds:Q6549091-ADB6F3BC-287D-4DD0-BF71-70A4DC0F9DD2
exact match	http://www.orpha.net/ORDO/Orphanet_69085
health specialty	wds:Q6549091-BA309B14-E7BB-4216-8AB8-E7A3794D864D
ICD-10	wds:q6549091-A541171B-4B24-489E-9606-1FF06BAAA7B6
Mondo ID	wds:Q6549091-73C9B1E9-2B23-4918-B009-4365780BCDC9
DiseasesDB	wds:q6549091-9977FF14-1E83-4348-9C88-764DC3AF9B86
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011334
health specialty	medical genetics
ICD-10	Q82.4
Mondo ID	MONDO_0011334
DiseasesDB	32743
rdfs:label	Limb-Mammary-Syndrom (de) Limb-mammary sendromu (tr) Limb–mammary syndrome (en) Syndrome d'anomalies des membres-anomalies mammaires (fr) ലിംബ്-മാമറി സിൻഡ്രോം (ml) 附肢-乳腺綜合徵 (zh)
skos:prefLabel	Limb-Mammary-Syndrom (de) Limb-mammary sendromu (tr) Limb–mammary syndrome (en) Syndrome d'anomalies des membres-anomalies mammaires (fr) ലിംബ്-മാമറി സിൻഡ്രോം (ml) 附肢-乳腺綜合徵 (zh)
name	Limb-Mammary-Syndrom (de) Limb-mammary sendromu (tr) Limb–mammary syndrome (en) Syndrome d'anomalies des membres-anomalies mammaires (fr) ലിംബ്-മാമറി സിൻഡ്രോം (ml) 附肢-乳腺綜合徵 (zh)
instance of	wds:Q6549091-C1BAB83A-72D6-4F75-BA7F-026A8BD62AB4 wds:Q6549091-D6E61A39-7009-40E5-8BFA-4160E6BC5BDD wds:Q6549091-DDFD096E-C549-44C5-8D50-478B211C20E4
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q6549091-2EDC0B2E-D4E6-4396-93CF-32CF3EB58EAB wds:Q6549091-479E1ABA-A28F-420D-B976-CC9A40BD932F wds:Q6549091-5643acaf-4b4a-902a-b41f-cc54d727f043 wds:Q6549091-7C038C32-8178-40DE-A110-041C0BDD163C wds:Q6549091-919C5E2E-98FE-4FFD-A5EE-E7A28924CF18 wds:Q6549091-ABCABF43-6BD8-47DF-92C0-42522A224AA0
subclass of	syndrome with limb reduction defects rare genetic gynecological and obstetrical diseases ectodermal dysplasia dysostosis of genetic origin with limb anomaly as a major feature deficient breast volume or number EEC syndrome and related syndrome
KEGG ID	wds:Q6549091-F3C6EDE2-FB9F-4B26-9354-90BBE12D9A8C
KEGG ID	http://www.kegg.jp/entry/H00640
KEGG ID	H00640
UniProt disease ID	wds:Q6549091-3f8e4e7d-4177-73d0-c020-a922ddc1603f
Orphanet ID	wds:Q6549091-6197ada8-4aa4-5896-178c-4dc3675f9f64
genetic association	wds:Q6549091-8F72B9FF-C6E0-4096-A8CD-B02F0F3DD2C4
GARD rare disease ID	wds:Q6549091-1236C7F6-B4C2-448C-A7F1-56353B7F85AF
OMIM ID	wds:q6549091-2867F747-C040-46CE-8608-B5BF2DB69DAC
UniProt disease ID	DI-01907
Orphanet ID	69085
genetic association	TP63
GARD rare disease ID	10051
OMIM ID	603543
skos:altLabel	LMS (en) LIMB-MAMMARY SYNDROME (en) LIMB-MAMMARY SYNDROME; LMS (en) syndrome limb-mammary (fr)
UMLS CUI	wds:Q6549091-B8F98D5E-4B33-43A0-BC25-08225CD62D5E
MeSH descriptor ID	wds:Q6549091-5307105c-4b2d-cca4-c4df-042ba089031f
Microsoft Academic ID	wds:Q6549091-D8F27EDA-F27E-4CF2-85F0-2AE622F03CC4
ICD-11 (foundation)	wds:Q6549091-1D728E3D-7CB6-4243-9CC8-AFF76E856015
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535903
Microsoft Academic ID	https://makg.org/entity/2777203269
UMLS CUI	C1863753
MeSH descriptor ID	C535903
Microsoft Academic ID	2777203269
ICD-11 (foundation)	1958986288
SNOMED CT ID	wds:Q6549091-AD9781AA-99B9-4C7E-BDC1-96AA33DBC5D2
SNOMED CT ID	http://snomed.info/id/721972001
SNOMED CT ID	721972001
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q6549091 Limb–mammary syndrome https://de.wikipedia.org/wiki/Limb-Mammary-Syndrom https://ml.wikipedia.org/wiki/%E0%B4%B2%E0%B4%BF%E0%B4%82%E0%B4%AC%E0%B5%8D-%E0%B4%AE%E0%B4%BE%E0%B4%AE%E0%B4%B1%E0%B4%BF_%E0%B4%B8%E0%B4%BF%E0%B5%BB%E0%B4%A1%E0%B5%8D%E0%B4%B0%E0%B5%8B%E0%B4%82 https://tr.wikipedia.org/wiki/Limb-mammary_sendromu
is main subject of	p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?
is main subject of	wds:Q57451099-CF83233B-DD4E-43A7-BF6A-1EBCFC790BF3 wds:Q42539520-92334007-B33F-4783-9A33-2C630A4C8EC1
is genetic association of	TP63
is genetic association of	wds:Q15313986-60F3E7F6-9E86-4F75-85D7-1EDA96418C00

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