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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:Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Comment:This term should be used for children who are at least five years old. For younger children, consider using 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: 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 74025
        Phenotypic abnormality 73720
          Abnormality of the nervous system 28570
            Abnormal nervous system physiology 26598
              Neurodevelopmental abnormality 4900
                Intellectual disability 3778
                  Intellectual disability, borderline 25
                  Intellectual disability, mild 465
                  Intellectual disability, moderate 184
                  Intellectual disability, profound 115
                  Intellectual disability, progressive 40
                  Intellectual disability, severe 445
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