SHMARQL

McKusick type metaphyseal dysplasia

<http://www.wikidata.org/entity/Q2964438>

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair
rdfs:label
"McKusick type metaphyseal dysplasia"@en
skos:altLabel
"Autosomal recessive metaphyseal chondrodysplasia"@en
"CARTILAGE-HAIR HYPOPLASIA; CHH"@en
"CHH"@en
"Cartilage Hair Hypoplasia"@en
"Cartilage hair hypoplasia like syndrome"@en
"Cartilage-Hair Hypoplasia"@en
"McKusick type metaphyseal chondrodysplasia"@en
"Metaphyseal chondrodysplasia McKusick type"@en
"Metaphyseal chondrodysplasia, McKusick type"@en
"cartilage-hair hypoplasia"@en
"obsolete McKusick type metaphyseal dysplasia"@en
schema:description
"metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair"@en
schema:dateModified "2026-10-23T23:31:04+00:00"^^xsd:dateTime
schema:version 2560155539
wikibase:identifiers 18
20
wikibase:sitelinks 9
wikibase:statements 40
p:P11143 wd:statement/Q2964438-06135CDF-8CE9-4512-9D46-C3A1074BBA75
p:P138 wd:statement/q2964438-724A57D8-E396-48B9-A9E4-58798FD55272
p:P14914 wd:statement/Q2964438-E42698D5-9682-4846-A33C-5B156785342E
p:P1542 wd:statement/Q2964438-f324eefa-4d4f-053d-9a7f-92e62cbc2004
p:P1550 wd:statement/Q2964438-97989BFC-C4B6-408E-BD65-5436C370EDA1
p:P1748 wd:statement/Q2964438-4481BE4C-005E-4055-ABCA-2790DA6AEBE0
p:P2293 wd:statement/Q2964438-CBD917BF-598A-4F78-A6CB-CB09BF9B02A8
p:P2347 wd:statement/Q2964438-7BAC1F73-35AB-4C2C-A5AF-F98A898D8644
p:P279 wd:statement/Q2964438-3458328F-86B0-4BAA-8FCB-AE6B241641BC
wd:statement/Q2964438-5f91e309-471b-2767-9df2-7efe3eee5ee5
wd:statement/Q2964438-6A092A6A-E60F-4440-AD15-877E1051A7D5
wd:statement/Q2964438-75E9D674-0991-4625-B670-02F5D0D7D4C9
wd:statement/Q2964438-A378AFAC-D39F-43B9-BBDF-72145330F7C4
wd:statement/Q2964438-AC9B20AD-DD3A-4623-A7E3-8AAA5C4A0C98
p:P2841 wd:statement/Q2964438-5468F27D-5E2E-4076-9236-3A1FFE52D80E
wd:statement/Q2964438-E7A1A6E2-1761-4816-9C27-0AA15E8EF645
wd:statement/Q2964438-E86D7F0B-71D2-46F7-AE34-42EAE5CC03C4
p:P2888 wd:statement/Q2964438-120C6851-AA79-41A8-812B-19BA02F1FB5E
wd:statement/Q2964438-5CE567DA-213D-404B-8786-FD6AFA99F406
wd:statement/Q2964438-6F49276B-F8CB-48AA-93A5-920C65F94B1D
wd:statement/Q2964438-A47E0D78-6352-4B25-A94A-A2DC3CC5FED6
p:P2892 wd:statement/Q2964438-FF72DF9C-EE04-436B-B17E-827AE49E0F16
p:P31 wd:statement/Q2964438-5A12B18E-557E-4070-AC15-6509BBC09828
wd:statement/Q2964438-E35A7D32-2BDF-4EB7-B7FF-28799D9CF74D
p:P4229 wd:statement/Q2964438-4838CD39-5B0C-4C17-858B-96F099219CF1
p:P4233 wd:statement/Q2964438-4796c6dc-4681-6855-f4bf-3f9c68fc9003
p:P4317 wd:statement/Q2964438-54E83184-7A02-440E-8403-12430738F464
p:P486 wd:statement/Q2964438-33A1263E-07F5-41A3-BF57-2980B8E8CCA9
p:P492 wd:statement/Q2964438-232FD2EC-9176-4510-827B-80C98CC39233
p:P5008 wd:statement/Q2964438-893FA79A-028B-49C7-91F9-95A1D683A490
p:P5270 wd:statement/Q2964438-AA317D7E-CE22-4DB6-BDD9-0C812105D5C9
p:P6366 wd:statement/Q2964438-46E7DC5A-2861-4A4E-BE57-9EC7A9BDBC0D
p:P646 wd:statement/Q2964438-BA733A06-9110-464E-BFE5-92C3FD5EEB25
p:P6532 wd:statement/Q2964438-DE853E0C-291C-49D4-9036-319A0B6A579D
p:P665 wd:statement/Q2964438-47BD67D2-DABA-417B-B01F-6819AD7D6E7A
p:P668 wd:statement/Q2964438-6658b15d-423f-a561-47c7-69a028f9cbac
p:P691 wd:statement/Q2964438-F99772AE-9D75-452F-9798-6A4973ED0A11
p:P699 wd:statement/Q2964438-1C83841C-4877-477C-BE3D-7095BAADBDE9
wd:statement/Q2964438-D55BD7EC-356C-498A-AB2D-C056DFDD1D9C
p:P7807 wd:statement/Q2964438-6E6FCAFC-071C-4275-B837-387C0172A8EE
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p10098>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535916>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009595>
p:direct-normalized/P6366 <https://makg.org/entity/2778518351>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01966>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:14773>
wdt:P11143 "Cartilage–hair hypoplasia"
wdt:P138 Victor A. McKusick
wdt:P14914 "D00175"
wdt:P1542 dwarfism
wdt:P1550 "175"
wdt:P1748 "C61245"
wdt:P2293 RMRP
wdt:P2347 "10098"
wdt:P279 autosomal recessive disease
ectodermal dysplasia
metaphyseal chondrodysplasia
Immuno-osseous dysplasia
multiple metaphyseal dysplasia
wdt:P2841 congenital onset
neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:14773>
<http://purl.obolibrary.org/obo/DOID_14773>
wdt:P2892 "C0220748"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q78.8"
wdt:P4233 "cartilage-hair-hypoplasia"
wdt:P4317 "6996"
wdt:P486 "C535916"
wdt:P492 "250250"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009595"
wdt:P6366 "2778518351"
wdt:P646 "/m/08ptz5"
wdt:P6532 electroencephalography abnormalities
wdt:P665 "H01966"
wdt:P668 "NBK84550"
wdt:P691 "ph1079882"
wdt:P699 "DOID:14773"
wdt:P7807 "469051294"
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