Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormal reflex (HP:0031826)help
..Starting node
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Abnormal superficial reflex (HP:0031828)help
Term ID: 31828
Name: Abnormal superficial reflex
Synonym:
Definition: An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.
Comments:
Reference: HP:0031828
Genes and Diseases:
 
       Child Nodes:
........expandBabinski sign (HP:0003487) help
........expandAbsent abdominal reflex (HP:0031827) help
........expandAbsent cremaster reflex (HP:0031829) help

 Sister Nodes: 
..expandHyperreflexia (HP:0001347) help
..expandReduced tendon reflexes (HP:0001315) 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:0031828HP:0031828Abnormal superficial reflex0 CL E G H
HP:0031828HP:0031829Absent cremaster reflex1 CL E G H
HP:0031828HP:0031827Absent abdominal reflex1 CL E G H
HP:0031828HP:0003487Babinski sign1 CL E G H


Genes (171) :AAAS ABCB7 ABHD12 ACOX1 ADAR ADGRG1 ADPRHL2 AFG3L2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 ARSA ATL1 ATP13A2 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN3 ATXN7 B4GALNT1 BRAT1 BSCL2 C12ORF65 C19ORF12 C9ORF72 CACNA1A CACNA1G CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CNTNAP1 COL4A1 CPT1C CTDP1 CTSF CWF19L1 CYP2U1 CYP7B1 DARS DARS2 DDC DDHD1 DDHD2 DKK1 DNAJC3 DNMT1 DPM3 DSTYK EEF2 EIF2S3 ERLIN1 ERLIN2 FA2H FAM126A FARS2 FBXO7 FTL FUS FXN GAD1 GAN GBA2 GCH1 GJB1 GJC2 GLRX5 GPT2 GRID2 HADHA HADHB HSPD1 HTRA1 IBA57 KCNA1 KDM5C KIF1A KIF1C KIF5A KY LARGE1 LMNB1 MAG MAN2B1 MCOLN1 MDH2 MECP2 MFN2 MTPAP NDUFS1 NDUFS4 NEFH NEFL NIPA1 NOP56 NT5C2 NUBPL NUP62 OPA1 OPA3 PDYN PGAP1 PIGT PIK3R5 PLA2G6 PLP1 PNPLA6 POLR3A POLR3B PRICKLE1 PRNP PRSS12 PSAP PSEN1 PYCR2 REEP1 REEP2 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SETX SIGMAR1 SLC16A2 SLC19A3 SLC1A4 SLC25A46 SLC2A1 SLC33A1 SLC39A14 SNCA SNX14 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 TAF2 TARDBP TBK1 TFG TGM6 TH TPP1 TRMT5 TRNE TSEN15 TSEN2 TTC19 TYROBP UCHL1 VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27

Diseases (241) :231550 301310 612674 264470 225154 606854 618170 101109 610246 447757 447760 447753 601162 616586 205100 607225 606353 280763 614066 613744 612936 614067 309271 309263 309256 250100 100984 182600 513436 314632 306674 606693 617225 644 320360 363654 300423 300911 164400 98761 276244 276238 276241 109150 94147 164500 101006 609195 614498 100998 270685 320375 615035 289560 320370 614298 615043 275872 98758 458803 616795 488594 616907 606721 139578 256840 615911 614696 600795 618186 175780 444099 616282 604168 615362 453521 320411 615030 100986 270800 615281 611105 608643 101008 609340 615033 268882 445062 616192 314404 263494 270750 101112 300148 615681 209951 611225 171629 612319 610532 617046 171695 260300 606159 95 229300 603513 643 352641 320391 614409 98808 128230 1175 302800 608804 613206 401866 616859 477673 616204 746 100994 612233 605280 600142 468661 616451 160120 300534 101010 614255 610357 397946 611302 604187 496689 608840 169500 459056 616680 248500 252650 617339 300055 99947 609260 254343 613672 618226 252010 616924 617882 100988 600363 276198 614153 320396 613162 618242 210000 258501 101108 610245 401820 615398 64753 610217 99015 312920 139480 612020 447896 607694 612437 282166 249500 611721 249900 607822 616420 610250 615625 616479 608984 100993 604805 617773 98 270550 159550 3208 252011 357043 602433 605726 300523 607483 616657 616505 606777 171863 612539 617013 616354 101000 275900 100985 182601 602099 604360 248900 35689 99013 607259 615599 612069 431329 615658 276193 613908 101150 284324 609270 616539 2596 617026 612389 615157 221770 615491 251282 329475 607317 100989 603563 614322 401840 100996 270700 610244
 

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