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- Nezelof_syndrome abstract "Nezelof syndrome (also known as "Thymic dysplasia with normal immunoglobulins") is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. An association with CD44 has been proposed.The defect is an inactive purine nucleoside phosphorylase. This results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Thus, DNA replication is inhibited and cells cannot replicate.".
- Nezelof_syndrome diseasesdb "29571".
- Nezelof_syndrome icd10 "D81.4".
- Nezelof_syndrome icd9 "279.13".
- Nezelof_syndrome omim "242700".
- Nezelof_syndrome wikiPageID "5624081".
- Nezelof_syndrome wikiPageRevisionID "601147872".
- Nezelof_syndrome diseasesdb "29571".
- Nezelof_syndrome hasPhotoCollection Nezelof_syndrome.
- Nezelof_syndrome icd "279.13".
- Nezelof_syndrome icd "D81.4".
- Nezelof_syndrome name "Nezelof syndrome".
- Nezelof_syndrome omim "242700".
- Nezelof_syndrome wordnet_type synset-disease-noun-1.
- Nezelof_syndrome subject Category:Autosomal_recessive_disorders.
- Nezelof_syndrome subject Category:Immunodeficiency.
- Nezelof_syndrome subject Category:Noninfectious_immunodeficiency-related_cutaneous_conditions.
- Nezelof_syndrome subject Category:Syndromes.
- Nezelof_syndrome type Abstraction100002137.
- Nezelof_syndrome type Attribute100024264.
- Nezelof_syndrome type AutosomalRecessiveDisorders.
- Nezelof_syndrome type Cognition100023271.
- Nezelof_syndrome type Complex105870365.
- Nezelof_syndrome type Concept105835747.
- Nezelof_syndrome type Condition113920835.
- Nezelof_syndrome type Content105809192.
- Nezelof_syndrome type Disease114070360.
- Nezelof_syndrome type Disorder114052403.
- Nezelof_syndrome type Idea105833840.
- Nezelof_syndrome type IllHealth114052046.
- Nezelof_syndrome type Illness114061805.
- Nezelof_syndrome type NoninfectiousImmunodeficiency-relatedCutaneousConditions.
- Nezelof_syndrome type PathologicalState114051917.
- Nezelof_syndrome type PhysicalCondition114034177.
- Nezelof_syndrome type PsychologicalFeature100023100.
- Nezelof_syndrome type State100024720.
- Nezelof_syndrome type Syndrome105870790.
- Nezelof_syndrome type Syndromes.
- Nezelof_syndrome type Whole105869584.
- Nezelof_syndrome type Disease.
- Nezelof_syndrome type AilmentCondition.
- Nezelof_syndrome type Situation.
- Nezelof_syndrome comment "Nezelof syndrome (also known as "Thymic dysplasia with normal immunoglobulins") is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. An association with CD44 has been proposed.The defect is an inactive purine nucleoside phosphorylase. This results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides.".
- Nezelof_syndrome label "Nezelof syndrome".
- Nezelof_syndrome label "Syndrome de Nezelof".
- Nezelof_syndrome label "Síndrome de Nezelof".
- Nezelof_syndrome label "Zespół Nezelofa".
- Nezelof_syndrome sameAs Síndrome_de_Nezelof.
- Nezelof_syndrome sameAs Syndrome_de_Nezelof.
- Nezelof_syndrome sameAs Zespół_Nezelofa.
- Nezelof_syndrome sameAs m.0dwxrv.
- Nezelof_syndrome sameAs Q3508681.
- Nezelof_syndrome sameAs Q3508681.
- Nezelof_syndrome sameAs Nezelof_syndrome.
- Nezelof_syndrome wasDerivedFrom Nezelof_syndrome?oldid=601147872.
- Nezelof_syndrome isPrimaryTopicOf Nezelof_syndrome.
- Nezelof_syndrome name "Nezelof syndrome".