Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Morphological central nervous system abnormality (HP:0002011)help
..Starting node
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Atrophy/Degeneration affecting the central nervous system (HP:0007367)help
Term ID: 7367
Name: Atrophy/Degeneration affecting the central nervous system
Synonym: Atrophy/Degeneration affecting the CNS
Definition:
Comments:
Reference: HP:0007367
Genes and Diseases:
 
       Child Nodes:
........expandNeurodegeneration (HP:0002180) help
................... HP:0040140 Degeneration of the striatum
........expandNeuronal loss in central nervous system (HP:0002529) help
........expandCentral nervous system degeneration (HP:0007009) help
........expandAtrophy/Degeneration involving the spinal cord (HP:0007344) help
................... HP:0006827 Atrophy of the spinal cord
........expandAtrophy/Degeneration affecting the brainstem (HP:0007366) help
........expandAtrophy/Degeneration involving the corticospinal tracts (HP:0007372) help
................... HP:0002314 Degeneration of the lateral corticospinal tracts
................... HP:0007117 Corticospinal tract atrophy
........expandMotor neuron atrophy (HP:0007373) help
................... HP:0002398 Degeneration of anterior horn cells
................... HP:0007354 Amyotrophic lateral sclerosis
........expandIncreased cerebral lipofuscin (HP:0011813) help
................... HP:0002074 Increased neuronal autofluorescent lipopigment
................... HP:0003463 Increased extraneuronal autofluorescent lipopigment
........expandBrain atrophy (HP:0012444) help
................... HP:0002283 Global brain atrophy
................... HP:0007369 Atrophy/Degeneration affecting the cerebrum
................... HP:0007374 Atrophy/Degeneration involving the caudate nucleus
........expandSenile plaques (HP:0100256) help
................... HP:0500028 Cotton wool plaques

 Sister Nodes: 
..expandAbnormal CNS myelination (HP:0011400) help
..expandAbnormal glial cell morphology (HP:0100705) help
..expandAbnormal meningeal morphology (HP:0010651) help
..expandAbnormal neural tube morphology (HP:0410043) help
..expandAbnormal subarachnoid space morphology (HP:0012703) help
..expandAbnormality of brain morphology (HP:0012443) help
..expandAbnormality of neuronal migration (HP:0002269) help
..expandAbnormality of the cerebrospinal fluid (HP:0002921) help
..expandAbnormality of the spinal cord (HP:0002143) help
..expandAlzheimer disease (HP:0002511) help
..expandAplasia/Hypoplasia involving the central nervous system (HP:0002977) help
..expandCentral nervous system cyst (HP:0030724) help
..expandEncephalocele (HP:0002084) help
..expandMorphological abnormality of the pyramidal tract (HP:0002062) help
..expandNeoplasm of the central nervous system (HP:0100006) help
..expandUnusual CNS infection (HP:0011450) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007367HP:0007367Atrophy/Degeneration affecting the central nervous system0 CL E G H
HP:0007367HP:0002529Neuronal loss in central nervous system1 CL E G H
HP:0007367HP:0007372Atrophy/Degeneration involving the corticospinal tracts1 CL E G H
HP:0007367HP:0011813Increased cerebral lipofuscin1 CL E G H
HP:0007367HP:0002180Neurodegeneration1 CL E G H
HP:0007367HP:0012444Brain atrophy1 CL E G H
HP:0007367HP:0007009Central nervous system degeneration1 CL E G H
HP:0007367HP:0007373Motor neuron atrophy1 CL E G H
HP:0007367HP:0100256Senile plaques1 CL E G H
HP:0007367HP:0007366Atrophy/Degeneration affecting the brainstem1 CL E G H
HP:0007367HP:0007344Atrophy/Degeneration involving the spinal cord1 CL E G H
HP:0007367HP:0002283Global brain atrophy2 CL E G H
HP:0007367HP:0040140Degeneration of the striatum2 CL E G H
HP:0007367HP:0007354Amyotrophic lateral sclerosis2 CL E G H
HP:0007367HP:0007369Atrophy/Degeneration affecting the cerebrum2 CL E G H
HP:0007367HP:0002074Increased neuronal autofluorescent lipopigment2 CL E G H
HP:0007367HP:0500028Cotton wool plaques2 CL E G H
HP:0007367HP:0002528Granulovacuolar degeneration2 CL E G H
HP:0007367HP:0006827Atrophy of the spinal cord2 CL E G H
HP:0007367HP:0002314Degeneration of the lateral corticospinal tracts2 CL E G H
HP:0007367HP:0003463Increased extraneuronal autofluorescent lipopigment2 CL E G H
HP:0007367HP:0002398Degeneration of anterior horn cells2 CL E G H
HP:0007367HP:0007117Corticospinal tract atrophy2 CL E G H
HP:0007367HP:0007313Cerebral degeneration3 CL E G H
HP:0007367HP:0002059Cerebral atrophy3 CL E G H
HP:0007367HP:0006964Cerebral cortical neurodegeneration3 CL E G H
HP:0007367HP:0010873Cervical spinal cord atrophy3 CL E G H
HP:0007367HP:0007374Atrophy/Degeneration involving the caudate nucleus3 CL E G H
HP:0007367HP:0012157Subcortical cerebral atrophy3 CL E G H
HP:0007367HP:0007371Corpus callosum atrophy3 CL E G H
HP:0007367HP:0002506Diffuse cerebral atrophy4 CL E G H
HP:0007367HP:0002340Caudate atrophy4 CL E G H
HP:0007367HP:0007058Generalized cerebral atrophy/hypoplasia4 CL E G H
HP:0007367HP:0002120Cerebral cortical atrophy4 CL E G H
HP:0007367HP:0006892Frontotemporal cerebral atrophy4 CL E G H
HP:0007367HP:0007132Pallidal degeneration4 CL E G H
HP:0007367HP:0006913Frontal cortical atrophy5 CL E G H
HP:0007367HP:0100308Cerebral cortical hemiatrophy5 CL E G H
HP:0007367HP:0007112Temporal cortical atrophy5 CL E G H
HP:0007367HP:0012104Parietal cortical atrophy5 CL E G H
HP:0007367HP:0012105Occipital cortical atrophy5 CL E G H
HP:0007367HP:0410170Hippocampal atrophy6 CL E G H
HP:0007367HP:0033715Hippocampal sclerosis7 CL E G H


Genes (584) :AARS AARS2 ABCA7 ABCD1 ABCD4 ABHD5 ACD ACER3 ACO2 ACTB ACTG1 ACY1 ADAR ADAT3 ADGRV1 ADK ADPRHL2 ADSL AGA AIMP1 AIMP2 ALDH18A1 ALDH7A1 ALG1 ALG13 ALG3 ALG9 ALS2 AMPD2 ANG ANXA11 AP1S2 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APOE APP ARV1 ARX ASAH1 ASPA ASXL1 ATAD1 ATL1 ATP13A2 ATP6 ATP6AP2 ATP6V1A ATP8A2 ATRX ATXN1 ATXN2 ATXN3 ATXN7 AUH B3GLCT B4GALNT1 BAZ1B BCAP31 BCS1L BICD2 BMP4 BRAF BRAT1 BSCL2 BTD C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA1E CACNA1G CAD CAMTA1 CARS2 CASK CCDC47 CCNF CCT5 CDC42 CDH23 CDKL5 CEP126 CFAP410 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLTC CNKSR2 CNTNAP1 COASY COG1 COG2 COG4 COG5 COG6 COG7 COL18A1 COL4A1 COQ9 COX1 COX2 COX3 CPA6 CPLANE1 CPLX1 CPT1C CSF1R CTDP1 CTNS CTSD CTSF CYFIP2 CYP27A1 CYP7B1 DAO DCTN1 DDB2 DGUOK DHDDS DHFR DHX30 DKC1 DMPK DNAJC13 DNAJC19 DNAJC3 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DOCK6 DOLK DPYD DSE DYRK1A EEF1A2 EHMT1 EIF4G1 ELN ELOVL4 EMC1 EMX2 EPG5 EPHA4 EPRS ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 FA2H FADD FARS2 FBXL4 FGF12 FGFR1 FGFR3 FH FIG4 FLI1 FMR1 FOLR1 FOXG1 FRMPD4 FRRS1L FTL FUCA1 FUS FXN GABBR2 GABRB2 GABRD GALC GBA GBA2 GFM1 GIGYF2 GJC2 GLB1 GLE1 GLUL GLYCTK GM2A GNAO1 GNAQ GPHN GPKOW GRIA4 GRID2 GRIN1 GRIN2D GRN GTF2I GTF2IRD1 GUF1 GUSB HACE1 HCN1 HDAC8 HECW2 HEPACAM HERC1 HIC1 HIVEP2 HNF1B HNRNPA1 HNRNPA2B1 HRAS HSD17B10 HSD17B4 HTRA2 HTT IBA57 IDS IDUA IFIH1 IGHMBP2 IKBKG IRF2BPL ITPA JPH3 KANK1 KCNA2 KCNAB2 KCNB1 KCNQ2 KCNT1 KCTD7 KDM6A KIDINS220 KIF1A KIF1C KIF7 KLHL7 KMT2A KMT2D KRAS L2HGDH LAGE3 LHX1 LIAS LIMK1 LIPT2 LMNB1 LRRK2 LYRM7 LYST MAF MAG MAN2B1 MAP2K1 MAP2K2 MAPT MARS2 MATR3 MBTPS2 MECP2 MED17 MEF2C MFSD8 MMACHC MMADHC MOCS1 MOCS2 MOGS MPDU1 MPLKIP MTR MTRR MVK MYO5A MYO7A NAA10 NACC1 NADK2 NAGA NALCN NANS NARS2 NAXE NBN ND1 ND4 ND5 ND6 NDP NDUFA11 NDUFA9 NDUFS1 NDUFS2 NDUFV1 NDUFV2 NECAP1 NEFH NEK1 NEXMIF NFIX NIPA1 NIPBL NKX6-2 NOTCH3 NPC1 NR4A2 NTNG1 NTRK2 NUP62 NUS1 OCLN OPHN1 OPTN OSGEP OSTM1 OTUD6B PAFAH1B1 PANK2 PARN PCCA PCCB PCDH15 PCK1 PCLO PCNA PDE8B PDHA1 PDYN PDZD7 PEX16 PEX19 PEX7 PFN1 PGAP1 PGAP2 PHACTR1 PIGA PIGG PIGL PIGN PIGS PIGT PIGV PLA2G6 PLAA PLK4 PLP1 PLPBP PNPLA6 PNPO PODXL POGZ POLG POLR3A POLR3B POMT2 PON1 PON2 PON3 PPARGC1A PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRKAR1B PRKDC PRNP PRPH PRUNE1 PSAP PSEN1 PSEN2 PSPH PUF60 PUS3 PYCR2 QARS RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAP1A RAP1B RARS RARS2 REPS1 RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF216 ROGDI RPS6KA3 RTEL1 RTN2 SACS SAMHD1 SBF1 SC5D SCN1A SCN3A SCN8A SCO2 SEPSECS SERAC1 SERPINI1 SETBP1 SETD5 SETX SHH SHPK SIGMAR1 SIX3 SKI SLC12A5 SLC13A5 SLC17A5 SLC1A2 SLC1A4 SLC25A15 SLC25A22 SLC2A1 SLC2A3 SLC33A1 SLC35A2 SLC35C1 SLC39A14 SLC39A4 SLC39A8 SLC52A2 SLC52A3 SLC9A6 SMC1A SMC3 SMG9 SMN1 SNCA SNCAIP SNX14 SOD1 SON SORL1 SPAST SPECC1L SPG11 SPG21 SPG7 SPTAN1 SQSTM1 SRCAP ST3GAL5 STAG1 STAMBP STUB1 STXBP1 SUCLA2 SUCLG1 SUMF1 SYNGAP1 SYNJ1 SZT2 TAF15 TANGO2 TARDBP TBC1D20 TBC1D24 TBCD TBCK TBK1 TBL2 TBP TCTN3 TDP1 TECPR2 TERT TFG TGFB1 TIMM50 TINF2 TK2 TMCO1 TMEM106B TMEM70 TOE1 TOMM40 TP53RK TPI1 TPP1 TPRKB TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIT1 TRMT5 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNW TSEN15 TSEN2 TSEN54 TTC19 TUBA4A TUBGCP4 TUBGCP6 TWNK TXN2 TYROBP UBA1 UBA5 UBE3A UBQLN2 UBTF UCHL1 UFM1 UNC13A UNC80 USH1C USH1G USH2A VAC14 VAPB VARS VCP VPS13A VPS13C VPS33A VPS35 VPS53 VRK1 WARS2 WASHC5 WDR45 WDR73 WDR81 WFS1 WHRN WWOX XPA XPC YME1L1 YWHAE YWHAG ZBTB20 ZC4H2 ZNF335 ZNF592 ZNHIT3

Diseases (576) :615889 300100 98907 51 615286 803 606889 271900 98755 904 614498 363400 615924 614298 100069 100070 105550 458803 616457 600795 615643 613612 221820 610127 66634 445062 616192 391411 314404 614457 278760 171629 612319 614946 85165 3472 613068 606159 608030 245200 610015 309246 272750 363432 607485 253220 52430 143100 309900 607014 616647 614959 2836 166024 607131 214500 600274 172700 601104 308205 610951 616239 617186 251260 618236 618226 618228 618225 618229 615833 257220 168600 234200 615919 610245 300868 256600 610217 617290 70595 203700 607459 615966 282166 600072 611721 610539 611523 615284 604377 614739 604218 85278 300243 613477 616878 617193 616900 98759 607136 868 617731 617862 192315 616539 615157 271245 478029 617672 615491 608627 617303 300894 83472 617967 617302 259050 329228 260565 260600 447757 324422 608776 205100 300605 611895 617839 159950 182600 644 551500 276244 276241 276238 275872 256840 65684 615911 614696 204200 256731 204300 601780 600143 610003 444099 100986 162350 615515 612577 609060 615426 604320 236792 99027 600 606070 600363 613435 609161 614808 612953 312920 139480 612020 79096 256730 603218 611722 508488 614225 300953 100993 602433 614373 171863 616920 253400 271150 253550 105400 500150 182601 602099 604360 607259 616437 370938 609056 612069 616439 94124 604484 204500 616208 616811 301830 300857 616801 613954 167320 607596 100989 603563 610185 442835 616339 614857 617762 2995 609924 225154 231178 614300 618170 103050 208400 618006 447753 447760 608540 300884 601110 617276 617050 618011 300423 618012 615268 301040 94147 250950 261540 369939 300475 124000 618285 616672 618268 231169 616271 616286 611209 613489 614576 608779 267750 614654 604168 219800 618008 213700 251880 613839 617804 160900 616346 614388 614116 614219 274270 615539 96147 616875 617951 133540 216400 614678 618065 306550 613759 615471 2396 606812 2308 616981 230000 95 230900 352641 320391 614409 608804 230600 230500 615473 617493 615501 614254 617162 464282 616756 617268 613925 616977 261265 218040 261515 617248 617435 615330 615846 618088 612900 439218 263516 611726 617296 614255 397946 301006 614462 169500 615838 601088 616680 248500 616430 2273 252150 252160 606056 609180 250940 236270 610377 33445 276432 300855 617393 616034 609242 616266 610442 618247 602535 527497 617729 259720 606054 261680 608027 312170 614877 614886 615802 614207 616917 280000 614080 615398 616171 616364 254886 98762 617711 309500 614023 615583 617051 615760 201000 600118 617916 610333 610181 212840 226750 607330 607208 614558 613811 269150 440713 616645 269920 617105 616657 609304 612126 614482 300896 617013 616721 35689 617635 614261 412057 612164 612073 245400 272200 220500 615338 2753 258860 320385 615031 618213 617698 609560 614969 617730 618164 369847 615356 225750 617873 616084 612389 251270 609286 221770 617132 617899 615851 617710 329284 251300 222300 616211 314580 615095 1020 3322 614559 3006 606353 615809 1568 280763 613744 2508 97297 306674 314632 513436 617225 363654 847 98756 709 101006 609195 618291 607932 115150 1340 253260 275864 614860 314647 614756 163937 616737 3095 3463 420492 300114 615803 435934 617395 263501 269160 550 617976 48431 615362 910 617070 411602 91131 614104 1493 1466 616081 93256 908 300623 300983 1606 230650 220120 3205 185300 2570 617864 617820 617065 199 617011 531 137920 3071 300438 399 464 98934 2322 617668 314603 611390 778 312750 613668 277400 277410 234050 2169 29 649 85277 136 617082 1229 137831 505237 607236 215100 401820 618298 3474 2059 618143 239300 199351 617527 2518 447896 607694 613156 604326 412066 157941 617481 607822 616420 2510 614222 1387 401830 438114 244310 618004 614922 616260 192 798 238970 266265 37 97229 616354 145410 2822 101001 99013 2044 615663 352596 1394 1194 618201 617669 352530 2770 617026 277470 105830 617802 2388 200150 616840 228384 98 614418
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.