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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Intellectual disability
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Accession:HP:0001249 term browser browse the term
Definition:Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Comment:This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).
Synonyms:exact_synonym: Mental deficiency;   Mental retardation;   Mental retardation, nonspecific;   Nonprogressive intellectual disability;   Nonprogressive mental retardation
 related_synonym: Dull intelligence;   Low intelligence;   Poor school performance
 alt_id: HP:0000730;   HP:0001267;   HP:0001286;   HP:0002122;   HP:0002192;   HP:0002316;   HP:0002382;   HP:0002386;   HP:0002402;   HP:0002458;   HP:0002482;   HP:0002499;   HP:0002543;   HP:0003767;   HP:0006833;   HP:0006877;   HP:0007154;   HP:0007176;   HP:0007180
 xref: MSH:D008607;   SNOMEDCT_US:228156007;   SNOMEDCT_US:247578003;   SNOMEDCT_US:91138005;   UMLS:C0025362;   UMLS:C0423903;   UMLS:C0917816;   UMLS:C1843367;   UMLS:C3714756;   UMLS:C4020876


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      Human phenotype 13427
        Phenotypic abnormality 13423
          Abnormality of the nervous system 8678
            Abnormal nervous system physiology 7754
              Neurodevelopmental abnormality 4054
                Intellectual disability 3238
                  Intellectual disability, borderline 19
                  Intellectual disability, mild 448
                  Intellectual disability, moderate 250
                  Intellectual disability, profound 164
                  Intellectual disability, progressive 51
                  Intellectual disability, severe 477
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