Cartilage–hair hypoplasia

CaLiGraph

Property	Value
rdf:type	owl:NamedIndividual Rare genetic syndrome Skin condition Radiographic finding associated with cutaneous conditions Genodermatose Noninfectious immunodeficiency-related cutaneous condition Primary immunodeficiency Autosomal recessive disorder
rdfs:label	Cartilage–hair hypoplasia
owl:sameAs	dbr:Cartilage–hair_hypoplasia
prov:wasDerivedFrom	http://en.wikipedia.org/wiki/Category:Noninfectious_immunodeficiency-related_cutaneous_conditions http://en.wikipedia.org/wiki/List_of_primary_immunodeficiencies http://en.wikipedia.org/wiki/Category:Genodermatoses http://en.wikipedia.org/wiki/Finnish_heritage_disease http://en.wikipedia.org/wiki/Category:Rare_genetic_syndromes http://en.wikipedia.org/wiki/List_of_diseases_(C) http://en.wikipedia.org/wiki/List_of_skin_conditions http://en.wikipedia.org/wiki/Hirschsprung's_disease http://en.wikipedia.org/wiki/List_of_radiographic_findings_associated_with_cutaneous_conditions http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders
skos:prefLabel	Cartilage–hair hypoplasia
skos:altLabel	Cartilage hair hypoplasia Cartilage hair hypoplasia like syndrome cartilage–hair hypoplasia cartilage–hair hypoplasia dwarfism
clgo:icd10	Q78.8
clgo:meshId	C535916
clgo:omim	250250
clgo:orpha	175
clgo:symptom	Neutropenia
is clgo:differentialDiagnosis of	Achondroplasia

About: clgr:Cartilage–hair_hypoplasia