Achondroplasia - CaLiGraph

Property	Value
rdf:type	owl:NamedIndividual Connective tissue disease Rare disease Fetal abnormality MeSH code (C16) Cell surface receptor deficiency MeSH code (C05) Growth disorder
rdfs:label	Achondroplasia
owl:sameAs	dbr:Achondroplasia
prov:wasDerivedFrom	http://en.wikipedia.org/wiki/Fontanelle http://en.wikipedia.org/wiki/Mendelian_traits_in_humans http://en.wikipedia.org/wiki/Cartilage http://en.wikipedia.org/wiki/Chondropathy http://en.wikipedia.org/wiki/Category:Rare_diseases http://en.wikipedia.org/wiki/List_of_diseases_(A) http://en.wikipedia.org/wiki/Megalencephaly http://en.wikipedia.org/wiki/Category:Connective_tissue_diseases http://en.wikipedia.org/wiki/Skull_bossing http://en.wikipedia.org/wiki/Macrocephaly http://en.wikipedia.org/wiki/Pseudoachondroplasia http://en.wikipedia.org/wiki/Atelosteogenesis_type_I http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16) http://en.wikipedia.org/wiki/List_of_fetal_abnormalities http://en.wikipedia.org/wiki/Category:Growth_disorders http://en.wikipedia.org/wiki/Hypotonia http://en.wikipedia.org/wiki/Category:Cell_surface_receptor_deficiencies http://en.wikipedia.org/wiki/Chromosome_4 http://en.wikipedia.org/wiki/List_of_MeSH_codes_(C05)
skos:prefLabel	Achondroplasia
skos:altLabel	dwarf additional achondroplasia Achondroplastic dwarfism Achondroplastic dwarves achondroplasia dwarfism achondroplasiac achondroplasic achondroplastic achondroplastic dwarf congenital dwarfism dwarf characteristics
clgo:complications	Ear infections,hyperlordosis,back pain,spinal stenosis,hydrocephalus
clgo:differentialDiagnosis	Hypochondroplasia Cartilage–hair hypoplasia Pseudoachondroplasia Thanatophoric dysplasia
clgo:diseasesDB	80
clgo:eMedicineSubject	article
clgo:eMedicineTopic	1258401-overview
clgo:icd10	Q77.4
clgo:icd9	756.4
clgo:medicalCause	Dominance (genetics) Fibroblast growth factor receptor 3
clgo:medicalDiagnosis	Genetic testing
clgo:medlinePlus	001577
clgo:meshId	D000130
clgo:omim	100800
clgo:orpha	15
clgo:symptom	Skull bossing Macrocephaly
clgo:treatment	Support group Growth hormone therapy
is clgo:medicalCause of	Spinal stenosis

About: clgr:Achondroplasia