An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

Property Value
dbo:description
  • Krankheit (de)
  • хвороба (uk)
  • ανθρώπινη ασθένεια (el)
  • metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair (en)
dbo:icd10
  • Q78.8
dbo:meshId
  • C535916
dbo:omim
  • 250250 (xsd:integer)
dbo:orpha
  • 175
dbo:symptom
dbo:thumbnail
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
  • Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance (en)
dbp:displayAuthors
  • 6 (xsd:integer)
dbp:icd
  • Q78.8 (en)
dbp:meshid
  • 535916.0 (dbd:nicaraguanCórdoba)
dbp:name
  • Cartilage-hair hypoplasia (en)
dbp:nameListStyle
  • vanc (en)
dbp:omim
  • 250250 (xsd:integer)
dbp:orphanet
  • 175 (xsd:integer)
dbp:symptoms
  • Neutropenia (en)
  • Abnormalities of spine (en)
  • Defective antibody and cell mediated immunity (en)
  • Hyperextensible joints of hand and feet (en)
  • Short limb dwarfism (en)
  • Very fine thin light hairs and eyebrows (en)
dbp:synonyms
  • McKusick type metaphyseal chondrodysplasia (en)
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Cartilage–hair hypoplasia (en)
  • Syndrom hypoplastických chrupavek a vlasů (cs)
  • نقص تنسج الغضروف والشعر (ar)
  • Υποπλασία χόνδρων-τριχών (el)
  • Knorpel-Haar-Hypoplasie (de)
  • Hipoplasia de cartílago-cabello (es)
  • Chondrodysplasie métaphysaire de McKusick (fr)
  • Dysplazja przynasadowa McKusicka (pl)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Cartilage-hair hypoplasia (en)
is dbo:differentialDiagnosis of
is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is dbp:differential of
is foaf:primaryTopic of
Powered by OpenLink Virtuoso    This material is Open Knowledge     W3C Semantic Web Technology     This material is Open Knowledge    Valid XHTML + RDFa
This content was extracted from Wikipedia and is licensed under the Creative Commons Attribution-ShareAlike 4.0 International