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, progressive (HP:0006887)help
Term ID: 6887
Name: Intellectual disability, progressive
Synonym: Intellectual disability, progressive; Mental retardation, progressive; Progressive mental retardation
Definition: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Comments:
Reference: HP:0006887
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, mild (HP:0001256) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, severe (HP:0010864) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006887HP:0006887Intellectual disability, progressive0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0006887HP:0006887Intellectual disability, progressive0AHSG CL E G H197203650Alopecia mental retardation syndrome 1203650C1859878OMIM1657349138680
HP:0006887HP:0006887Intellectual disability, progressive0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0006887HP:0006887Intellectual disability, progressive0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM12327714561300429
HP:0006887HP:0006887Intellectual disability, progressive0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0006887HP:0006887Intellectual disability, progressive0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0006887HP:0006887Intellectual disability, progressive0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM1714630237610055
HP:0006887HP:0006887Intellectual disability, progressive0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0006887HP:0006887Intellectual disability, progressive0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0006887HP:0006887Intellectual disability, progressive0DMPK CL E G H1760273ORPHA182332933605377
HP:0006887HP:0006887Intellectual disability, progressive0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0006887HP:0006887Intellectual disability, progressive0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0006887HP:0006887Intellectual disability, progressive0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0006887HP:0006887Intellectual disability, progressive0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0006887HP:0006887Intellectual disability, progressive0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0006887HP:0006887Intellectual disability, progressive0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0006887HP:0006887Intellectual disability, progressive0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0006887HP:0006887Intellectual disability, progressive0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0006887HP:0006887Intellectual disability, progressive0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0006887HP:0006887Intellectual disability, progressive0L2HGDH CL E G H7994479314ORPHA1818720499609584
HP:0006887HP:0006887Intellectual disability, progressive0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM1818720499609584
HP:0006887HP:0006887Intellectual disability, progressive0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0006887HP:0006887Intellectual disability, progressive0MGAT2 CL E G H424779329ORPHA151077045602616
HP:0006887HP:0006887Intellectual disability, progressive0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0006887HP:0006887Intellectual disability, progressive0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1363287473602568
HP:0006887HP:0006887Intellectual disability, progressive0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM1363287473602568
HP:0006887HP:0006887Intellectual disability, progressive0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0006887HP:0006887Intellectual disability, progressive0NDP CL E G H4693649ORPHA11672077678300658
HP:0006887HP:0006887Intellectual disability, progressive0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0006887HP:0006887Intellectual disability, progressive0NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM11122152488600584
HP:0006887HP:0006887Intellectual disability, progressive0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0006887HP:0006887Intellectual disability, progressive0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0006887HP:0006887Intellectual disability, progressive0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0006887HP:0006887Intellectual disability, progressive0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0006887HP:0006887Intellectual disability, progressive0SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0006887HP:0006887Intellectual disability, progressive0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0006887HP:0006887Intellectual disability, progressive0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM1716320197605881
HP:0006887HP:0006887Intellectual disability, progressive0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0006887HP:0006887Intellectual disability, progressive0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0006887HP:0006887Intellectual disability, progressive0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0006887HP:0006887Intellectual disability, progressive0SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0006887HP:0006887Intellectual disability, progressive0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0006887HP:0006887Intellectual disability, progressive0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0006887HP:0006887Intellectual disability, progressive0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM16020611831188250
HP:0006887HP:0006887Intellectual disability, progressive0TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM1142512372188540
HP:0006887HP:0006887Intellectual disability, progressive0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0006887HP:0006887Intellectual disability, progressive0UROC1 CL E G H131669276880Urocanate hydratase deficiency276880C0268514OMIM136826444613012
HP:0006887HP:0006887Intellectual disability, progressive0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0006887HP:0006887Intellectual disability, progressive0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0006887HP:0006887Intellectual disability, progressive0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006887HP:0006887Intellectual disability, progressive0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM01518120207610308
HP:0006887HP:0006887Intellectual disability, progressive0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM051642291300885
HP:0006887HP:0006887Intellectual disability, progressive0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM0142014837300056
HP:0006887HP:0006887Intellectual disability, progressive0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM013916250603305
HP:0006887HP:0006887Intellectual disability, progressive0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM0616320372300403


Genes (47) :ACOX1 AHSG AP4M1 ARHGEF9 ARX ATRX B3GLCT CC2D1A COX7B CTSD DDB2 DMPK ERCC2 ERCC3 ERCC4 ERCC5 GCH1 HCCS KAT6B KCNH1 KDM5C L2HGDH MECP2 MGAT2 MTRR NDE1 NDP NDUFB11 NKX2-5 OFD1 PEX1 PTS RAB3GAP2 SLC16A2 SLC35C1 SLC9A6 SNAP29 SRD5A3 SUCLA2 TCF4 TK2 TSHB UBE3A UROC1 WDR81 XPA XPC

Diseases (47) :264470 203650 612936 300607 300004 309580 261540 608443 309801 610127 910 273 160900 233910 606170 611816 135500 300534 79314 236792 300673 79329 212066 2169 236270 605013 649 310600 225250 300209 214100 261640 212720 59 300523 266265 300243 609528 612713 1933 612073 610954 609560 275100 105830 276880 610185
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.