Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Intellectual disability (HP:0001249)help
..Starting node
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Intellectual disability, borderline (HP:0006889)help
Term ID: 6889
Name: Intellectual disability, borderline
Synonym: Intellectual disability, borderline; Mental retardation, borderline
Definition: Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
Comments:
Reference: HP:0006889
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, mild (HP:0001256) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, progressive (HP:0006887) help
..expandIntellectual disability, severe (HP:0010864) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006889HP:0006889Intellectual disability, borderline0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0006889HP:0006889Intellectual disability, borderline0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0006889HP:0006889Intellectual disability, borderline0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0006889HP:0006889Intellectual disability, borderline0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0006889HP:0006889Intellectual disability, borderline0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0006889HP:0006889Intellectual disability, borderline0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0006889HP:0006889Intellectual disability, borderline0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0006889HP:0006889Intellectual disability, borderline0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0006889HP:0006889Intellectual disability, borderline0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0006889HP:0006889Intellectual disability, borderline0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0006889HP:0006889Intellectual disability, borderline0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0006889HP:0006889Intellectual disability, borderline0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0006889HP:0006889Intellectual disability, borderline0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0006889HP:0006889Intellectual disability, borderline0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0006889HP:0006889Intellectual disability, borderline0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0006889HP:0006889Intellectual disability, borderline0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0006889HP:0006889Intellectual disability, borderline0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0006889HP:0006889Intellectual disability, borderline0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0006889HP:0006889Intellectual disability, borderline0NUDT2 CL E G H3188049OMIM:619844
HP:0006889HP:0006889Intellectual disability, borderline0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0006889HP:0006889Intellectual disability, borderline0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0006889HP:0006889Intellectual disability, borderline0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0006889HP:0006889Intellectual disability, borderline0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0006889HP:0006889Intellectual disability, borderline0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0006889HP:0006889Intellectual disability, borderline0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0006889HP:0006889Intellectual disability, borderline0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0006889HP:0006889Intellectual disability, borderline0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0006889HP:0006889Intellectual disability, borderline0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0006889HP:0006889Intellectual disability, borderline0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0006889HP:0006889Intellectual disability, borderline0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0006889HP:0006889Intellectual disability, borderline0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0006889HP:0006889Intellectual disability, borderline0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0006889HP:0006889Intellectual disability, borderline0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0006889HP:0006889Intellectual disability, borderline0YY1AP1 CL E G H5524930935ORPHA:79094Grange syndromeHP:0040281 - Very frequent5


Genes (25) :AASS ALOX12B ALOXE3 CLDN11 CPLX1 ENTPD1 GABRG2 GRIN2A IFT172 KCNMA1 MAGEL2 NDN NRAS NUDT2 OCA2 POMK SCN3A SCN8A SNRPN SRPX2 TBC1D24 TONSL TRAPPC11 TRIO YY1AP1

Diseases (21) :ORPHA:2203 OMIM:242100 OMIM:619328 ORPHA:352582 ORPHA:401810 ORPHA:1945 OMIM:619471 ORPHA:79137 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:613224 OMIM:619844 OMIM:616094 OMIM:617935 OMIM:614306 ORPHA:93357 ORPHA:369840 ORPHA:476126 ORPHA:79094
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.