SHMARQL

microcephaly lymphoedema chorioretinal dysplasia

<http://www.wikidata.org/entity/Q6839330>

syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability
rdfs:label
"microcephaly lymphoedema chorioretinal dysplasia"@en
skos:altLabel
"Cdmmr Syndrome"@en
"Lymphedema and Retinal Folds With Microcephaly and Microphthalmos"@en
"Lymphedema, Microcephaly, Chorioretinopathy Syndrome"@en
"MCLMR"@en
"MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION"@en
"MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR"@en
"MLCRD"@en
"Microcephaly and Chorioretinopathy With or Without Mental Retardation, Autosomal Dominant"@en
"Microcephaly-lymphedema-chorioretinopathy syndrome"@en
"Mlcrd Syndrome"@en
"chorioretinal dysplasia-microcephaly-mental retardation syndrome"@en
"lymphedema and retinal folds with ficrocephaly and microphthalmos"@en
"lymphedema, microcephaly and chorioretinopathy syndrome"@en
"microcephaly lymphedema chorioretinal dysplasia"@en
"microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"@en
"microcephaly, lymphedema, chorioretinal dysplasia syndrome"@en
schema:description
"syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability"@en
schema:dateModified "2026-10-23T23:48:11+00:00"^^xsd:dateTime
schema:version 2560158912
wikibase:identifiers 15
wikibase:sitelinks 1
wikibase:statements 39
p:P11430 wd:statement/Q6839330-d256ed7b-4db7-64c1-81c1-dcb8c44093d7
p:P1193 wd:statement/Q6839330-0F39450A-5545-49D0-BDDB-9B97549A675D
p:P14914 wd:statement/Q6839330-4658D8C9-A411-4E4D-8003-ED2D444557B0
p:P1550 wd:statement/Q6839330-D67169A9-EE9A-45E9-8CCB-CFB91CF6C152
p:P2293 wd:statement/Q6839330-030EE4B3-E15B-443C-96EF-3B550D464C2C
p:P279 wd:statement/Q6839330-096F5C59-4540-4672-A516-6396D193406C
wd:statement/Q6839330-24ECCC62-DBDA-4575-B2F2-F1556EBE93C2
wd:statement/Q6839330-2D34E7D1-D0C5-4D18-AA08-2BAD021A275F
wd:statement/Q6839330-70984A26-64F5-4AF1-B61C-ACD311801735
wd:statement/Q6839330-7F91ACD8-1D04-4084-B3A3-69F78F324D61
wd:statement/Q6839330-7FADB6E1-8828-4160-9261-CEF96E4C2631
wd:statement/Q6839330-8E73948A-33F2-405E-ABEE-4F6726F270CD
wd:statement/Q6839330-A39CF8E7-B0B9-4AD6-B242-EAD568CFC06C
wd:statement/Q6839330-B782FEA4-038D-40E1-AA70-E96B09B94DE6
wd:statement/Q6839330-B94BBD4C-AC33-43B6-953E-B3DC61399E5E
wd:statement/Q6839330-BB8B1726-A476-4BDF-8A50-A744F4CBA375
wd:statement/Q6839330-d2c68ccb-41d0-3636-942e-20b63aa9142e
p:P2841 wd:statement/Q6839330-4C1A925A-BA16-4980-A81B-4EC8204836A6
p:P2888 wd:statement/Q6839330-33F20CD1-2F6C-4D91-B857-666C136485A8
wd:statement/Q6839330-ADA4ABD6-E996-4BD9-8F89-96A23F70F0EF
wd:statement/Q6839330-E257943E-442D-4B04-B987-EDB3F885F547
p:P2892 wd:statement/Q6839330-6C4933FF-2166-4462-855C-52F8250D1D26
wd:statement/Q6839330-B939C297-1605-4EDC-929A-F32F64342324
p:P31 wd:statement/Q6839330-CFC4DA6E-A56E-4560-BA86-0955774B0375
wd:statement/Q6839330-ED6AFE9D-F28C-4BEE-9F1D-D97CB7CA62C3
p:P4229 wd:statement/Q6839330-90076689-F6C3-4EBC-B1D3-972FFE59F7A9
p:P4317 wd:statement/Q6839330-D9F77A0C-4537-4638-BC79-2D4CB8AF30DC
p:P486 wd:statement/Q6839330-8504F94F-2AA0-4155-A771-0953B40A86C4
p:P492 wd:statement/Q6839330-7041F7C9-013E-45A1-8843-6187FC795912
p:P5008 wd:statement/Q6839330-822B9739-4C8A-47CE-83E3-10CF3FA7DA3E
p:P5270 wd:statement/Q6839330-32D5E8A2-DBD5-4162-9F7D-4EC422B4DF3A
p:P6366 wd:statement/Q6839330-340ECADB-6C29-44CD-97E5-50DD0D044EF4
wd:statement/Q6839330-FAD8157F-84AE-4364-B5E7-315BA535D0D1
p:P6532 wd:statement/Q6839330-48D75094-E557-4C7F-B674-929B7593D9BE
wd:statement/Q6839330-984E0347-BD47-48AD-87E0-B68D84494E01
wd:statement/Q6839330-9A7D37C8-2195-43F8-A86C-79DA71775BED
p:P665 wd:statement/Q6839330-0431974D-F059-46DB-B1CF-B7C9D1A64F69
p:P699 wd:statement/Q6839330-AB91A2B5-F465-4392-A83D-473AC17778DB
p:P7807 wd:statement/Q6839330-8F7BFCFA-6E14-4EA8-A3BD-B451F3DB0D8A
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537711>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007918>
p:direct-normalized/P6366 <https://makg.org/entity/2777405160>
<https://makg.org/entity/2908560810>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01876>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060349>
wdt:P11430 "DI-03432"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02526"
wdt:P1550 "2526"
wdt:P2293 KIF11
wdt:P279 syndrome
autosomal dominant disease
microcephaly and chorioretinopathy
rare genetic immune disease
genetic vascular anomaly
primary lymphedema with associated anomalies
syndromic lymphedema
fundus dystrophy
wdt:P2841 neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060349>
<http://purl.obolibrary.org/obo/DOID_0060349>
<http://www.orpha.net/ORDO/Orphanet_2526>
wdt:P2892 "C1835265"
"C3501946"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q87.8"
wdt:P4317 "3622"
wdt:P486 "C537711"
wdt:P492 "152950"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0007918"
wdt:P6366 "2777405160"
"2908560810"
wdt:P6532 sleep disturbance
aggression
cellulitis
wdt:P665 "H01876"
wdt:P699 "DOID:0060349"
wdt:P7807 "1127849024"
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