Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Pontocerebellar_hypoplasia> ?p ?o }
- Pontocerebellar_hypoplasia abstract "Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.".
- Pontocerebellar_hypoplasia thumbnail Pontocerebellar_hypoplasia_Orphanet_1750-1172-7-18-3-l.jpg?width=300.
- Pontocerebellar_hypoplasia wikiPageID "35587668".
- Pontocerebellar_hypoplasia wikiPageLength "10529".
- Pontocerebellar_hypoplasia wikiPageOutDegree "88".
- Pontocerebellar_hypoplasia wikiPageRevisionID "647233624".
- Pontocerebellar_hypoplasia wikiPageWikiLink 2-ketoglutaric_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink AMPD2.
- Pontocerebellar_hypoplasia wikiPageWikiLink AMP_deaminase_2.
- Pontocerebellar_hypoplasia wikiPageWikiLink Adipic_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink Alpha-Ketoglutaric_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink Anatomical_terms_of_location.
- Pontocerebellar_hypoplasia wikiPageWikiLink Anorchia.
- Pontocerebellar_hypoplasia wikiPageWikiLink Anterior_grey_column.
- Pontocerebellar_hypoplasia wikiPageWikiLink Anterior_horn_of_spinal_cord.
- Pontocerebellar_hypoplasia wikiPageWikiLink Apnea.
- Pontocerebellar_hypoplasia wikiPageWikiLink Atrophy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Autosomal.
- Pontocerebellar_hypoplasia wikiPageWikiLink Autosomal_recessive.
- Pontocerebellar_hypoplasia wikiPageWikiLink Autosome.
- Pontocerebellar_hypoplasia wikiPageWikiLink Brain.
- Pontocerebellar_hypoplasia wikiPageWikiLink Brain_hemisphere.
- Pontocerebellar_hypoplasia wikiPageWikiLink Brainstem.
- Pontocerebellar_hypoplasia wikiPageWikiLink CASK.
- Pontocerebellar_hypoplasia wikiPageWikiLink CASK_(gene).
- Pontocerebellar_hypoplasia wikiPageWikiLink CHMP1A.
- Pontocerebellar_hypoplasia wikiPageWikiLink CLAM_(gene).
- Pontocerebellar_hypoplasia wikiPageWikiLink CLP1.
- Pontocerebellar_hypoplasia wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Pontocerebellar_hypoplasia wikiPageWikiLink Category:Neurodegenerative_disorders.
- Pontocerebellar_hypoplasia wikiPageWikiLink Category:Neurogenetic_disorders.
- Pontocerebellar_hypoplasia wikiPageWikiLink Cerebellar_vermis.
- Pontocerebellar_hypoplasia wikiPageWikiLink Cerebellum.
- Pontocerebellar_hypoplasia wikiPageWikiLink Cerebral_hemisphere.
- Pontocerebellar_hypoplasia wikiPageWikiLink Coronal_view.
- Pontocerebellar_hypoplasia wikiPageWikiLink Corpus_callosum.
- Pontocerebellar_hypoplasia wikiPageWikiLink Developmental_delay.
- Pontocerebellar_hypoplasia wikiPageWikiLink Dominance_(genetics).
- Pontocerebellar_hypoplasia wikiPageWikiLink Dysmorphic_feature.
- Pontocerebellar_hypoplasia wikiPageWikiLink EXOSC3.
- Pontocerebellar_hypoplasia wikiPageWikiLink Edema.
- Pontocerebellar_hypoplasia wikiPageWikiLink Encephalopathy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Epilepsy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Epileptic_seizure.
- Pontocerebellar_hypoplasia wikiPageWikiLink Exosome_component_3.
- Pontocerebellar_hypoplasia wikiPageWikiLink Gene.
- Pontocerebellar_hypoplasia wikiPageWikiLink Hypoplasia.
- Pontocerebellar_hypoplasia wikiPageWikiLink Hypotonia.
- Pontocerebellar_hypoplasia wikiPageWikiLink Intellectual_disability.
- Pontocerebellar_hypoplasia wikiPageWikiLink Lactic_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink Locus_(genetics).
- Pontocerebellar_hypoplasia wikiPageWikiLink Magnetic_resonance_imaging.
- Pontocerebellar_hypoplasia wikiPageWikiLink Maxilla.
- Pontocerebellar_hypoplasia wikiPageWikiLink Mental_retardation.
- Pontocerebellar_hypoplasia wikiPageWikiLink Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia.
- Pontocerebellar_hypoplasia wikiPageWikiLink Microcephaly.
- Pontocerebellar_hypoplasia wikiPageWikiLink Mitochondrial_disease.
- Pontocerebellar_hypoplasia wikiPageWikiLink Mitochondriopathy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Muscle_atrophy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Muscle_contracture.
- Pontocerebellar_hypoplasia wikiPageWikiLink Mutation.
- Pontocerebellar_hypoplasia wikiPageWikiLink Myelin.
- Pontocerebellar_hypoplasia wikiPageWikiLink Myelination.
- Pontocerebellar_hypoplasia wikiPageWikiLink Myoclonus.
- Pontocerebellar_hypoplasia wikiPageWikiLink Neurodegeneration.
- Pontocerebellar_hypoplasia wikiPageWikiLink Neuron.
- Pontocerebellar_hypoplasia wikiPageWikiLink Neurons.
- Pontocerebellar_hypoplasia wikiPageWikiLink OMIM.
- Pontocerebellar_hypoplasia wikiPageWikiLink Online_Mendelian_Inheritance_in_Man.
- Pontocerebellar_hypoplasia wikiPageWikiLink Optic_atrophy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Optic_neuropathy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Polyhydramnios.
- Pontocerebellar_hypoplasia wikiPageWikiLink Pons.
- Pontocerebellar_hypoplasia wikiPageWikiLink Pyruvate.
- Pontocerebellar_hypoplasia wikiPageWikiLink Pyruvic_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink RARS2.
- Pontocerebellar_hypoplasia wikiPageWikiLink RNA.
- Pontocerebellar_hypoplasia wikiPageWikiLink Recessive.
- Pontocerebellar_hypoplasia wikiPageWikiLink Respiratory_failure.
- Pontocerebellar_hypoplasia wikiPageWikiLink Respiratory_insufficiency.
- Pontocerebellar_hypoplasia wikiPageWikiLink SEPSECS.
- Pontocerebellar_hypoplasia wikiPageWikiLink Sagittal.
- Pontocerebellar_hypoplasia wikiPageWikiLink Sagittal_plane.
- Pontocerebellar_hypoplasia wikiPageWikiLink Seizure.
- Pontocerebellar_hypoplasia wikiPageWikiLink Short_stature.
- Pontocerebellar_hypoplasia wikiPageWikiLink Specific_developmental_disorder.
- Pontocerebellar_hypoplasia wikiPageWikiLink Spinal_motor_neuron.
- Pontocerebellar_hypoplasia wikiPageWikiLink Spinal_muscular_atrophies.
- Pontocerebellar_hypoplasia wikiPageWikiLink Spinal_muscular_atrophy.
- Pontocerebellar_hypoplasia wikiPageWikiLink Suberic_acid.
- Pontocerebellar_hypoplasia wikiPageWikiLink TSEN2.
- Pontocerebellar_hypoplasia wikiPageWikiLink TSEN34.
- Pontocerebellar_hypoplasia wikiPageWikiLink TSEN54.
- Pontocerebellar_hypoplasia wikiPageWikiLink VPS53.
- Pontocerebellar_hypoplasia wikiPageWikiLink VRK1.
- Pontocerebellar_hypoplasia wikiPageWikiLink Vanishing_testis.
- Pontocerebellar_hypoplasia wikiPageWikiLink Vermis.
- Pontocerebellar_hypoplasia wikiPageWikiLink X-linked_intellectual_disability.
- Pontocerebellar_hypoplasia wikiPageWikiLink X-linked_mental_retardation.
- Pontocerebellar_hypoplasia wikiPageWikiLinkText "Pontocerebellar hypoplasia".