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- Hypophosphatasia abstract "Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 200 genetic mutations identified to date in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in milder forms. The prevalence of hypophosphatasia is not known. One study estimated the live birth incidence of severe forms to be 1:100,000.".
- Hypophosphatasia diseasesdb "6516".
- Hypophosphatasia emedicineSubject "ped".
- Hypophosphatasia emedicineTopic "1126".
- Hypophosphatasia icd10 "E83.3".
- Hypophosphatasia icd9 "275.3".
- Hypophosphatasia meshId "D007014".
- Hypophosphatasia omim "146300".
- Hypophosphatasia wikiPageExternalLink www.hpp-ev.de.
- Hypophosphatasia wikiPageExternalLink www.hppchoosehope.org.
- Hypophosphatasia wikiPageExternalLink www.hypophosphatasia.com.
- Hypophosphatasia wikiPageExternalLink www.hypophosphatasie.com.
- Hypophosphatasia wikiPageExternalLink NBK1150.
- Hypophosphatasia wikiPageExternalLink Mutation.html..
- Hypophosphatasia wikiPageExternalLink www.softbones.org.
- Hypophosphatasia wikiPageID "2590704".
- Hypophosphatasia wikiPageRevisionID "606316333".
- Hypophosphatasia diseasesdb "6516".
- Hypophosphatasia emedicinesubj "ped".
- Hypophosphatasia emedicinetopic "1126".
- Hypophosphatasia hasPhotoCollection Hypophosphatasia.
- Hypophosphatasia icd "275.3".
- Hypophosphatasia icd "E83.3".
- Hypophosphatasia meshid "D007014".
- Hypophosphatasia name "Hypophosphatasia".
- Hypophosphatasia omim "146300".
- Hypophosphatasia wordnet_type synset-disease-noun-1.
- Hypophosphatasia subject Category:Enzyme_defects.
- Hypophosphatasia subject Category:Rare_diseases.
- Hypophosphatasia type Abstraction100002137.
- Hypophosphatasia type Attribute100024264.
- Hypophosphatasia type Condition113920835.
- Hypophosphatasia type Defect114464005.
- Hypophosphatasia type Disease114070360.
- Hypophosphatasia type EnzymeDefects.
- Hypophosphatasia type IllHealth114052046.
- Hypophosphatasia type Illness114061805.
- Hypophosphatasia type Imperfection114462666.
- Hypophosphatasia type PathologicalState114051917.
- Hypophosphatasia type PhysicalCondition114034177.
- Hypophosphatasia type State100024720.
- Hypophosphatasia type Disease.
- Hypophosphatasia type AilmentCondition.
- Hypophosphatasia type Situation.
- Hypophosphatasia comment "Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia.".
- Hypophosphatasia label "Hipofosfatazja".
- Hypophosphatasia label "Hypophosphatasia".
- Hypophosphatasia label "Hypophosphatasie".
- Hypophosphatasia label "Hypophosphatasie".
- Hypophosphatasia label "Гипофосфатазия".
- Hypophosphatasia label "低磷酸酯脢症".
- Hypophosphatasia sameAs Hypophosphatasie.
- Hypophosphatasia sameAs Hypophosphatasie.
- Hypophosphatasia sameAs Hipofosfatazja.
- Hypophosphatasia sameAs m.07q5fv.
- Hypophosphatasia sameAs Q1313510.
- Hypophosphatasia sameAs Q1313510.
- Hypophosphatasia sameAs 588.
- Hypophosphatasia sameAs Hypophosphatasia.
- Hypophosphatasia wasDerivedFrom Hypophosphatasia?oldid=606316333.
- Hypophosphatasia isPrimaryTopicOf Hypophosphatasia.
- Hypophosphatasia name "Hypophosphatasia".