Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
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Abnormality of muscle size (HP:0030236)help
Term ID: 30236
Name: Abnormality of muscle size
Synonym: Abnormality of muscle size
Definition: Abnormalities of the overall muscle bulk based on clinical observation.
Comments:
Reference: HP:0030236
Genes and Diseases:
 
       Child Nodes:
........expandAplasia/Hypoplasia involving the skeletal musculature (HP:0001460) help
................... HP:0009004 Hypoplasia of the musculature
................... HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities
................... HP:0100854 Aplasia of the musculature
........expandSkeletal muscle atrophy (HP:0003202) help
................... HP:0003693 Distal amyotrophy
................... HP:0003697 Scapuloperoneal amyotrophy
................... HP:0003700 Generalized amyotrophy
................... HP:0003797 Limb-girdle muscle atrophy
................... HP:0007126 Proximal amyotrophy
................... HP:0007210 Lower limb amyotrophy
................... HP:0007269 Spinal muscular atrophy
................... HP:0008964 Nonprogressive muscular atrophy
................... HP:0009049 Peroneal muscle atrophy
................... HP:0009129 Upper limb amyotrophy
................... HP:0012036 Sternocleidomastoid amyotrophy
................... HP:0012037 Pectoralis amyotrophy
........expandSkeletal muscle hypertrophy (HP:0003712) help
................... HP:0000158 Macroglossia
................... HP:0003720 Generalized muscle hypertrophy
................... HP:0008968 Muscle hypertrophy of the lower extremities
................... HP:0009042 Marked muscular hypertrophy
................... HP:0012892 Facial muscle hypertrophy
................... HP:0012893 Neck muscle hypertrophy
................... HP:0012894 Paraspinal muscle hypertrophy
................... HP:0012895 Scapular muscle hypertrophy
................... HP:0040265 Upper limb muscle hypertrophy

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) 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:0030236HP:0030236Abnormality of muscle size0 CL E G H
HP:0030236HP:0001460Aplasia/Hypoplasia involving the skeletal musculature1 CL E G H
HP:0030236HP:0003202Skeletal muscle atrophy1 CL E G H
HP:0030236HP:0003712Skeletal muscle hypertrophy1 CL E G H
HP:0030236HP:0009004Hypoplasia of the musculature2 CL E G H
HP:0030236HP:0012036Sternocleidomastoid amyotrophy2 CL E G H
HP:0030236HP:0012894Paraspinal muscle hypertrophy2 CL E G H
HP:0030236HP:0003700Generalized amyotrophy2 CL E G H
HP:0030236HP:0009128Aplasia/Hypoplasia involving the musculature of the extremities2 CL E G H
HP:0030236HP:0012037Pectoralis amyotrophy2 CL E G H
HP:0030236HP:0007269Spinal muscular atrophy2 CL E G H
HP:0030236HP:0009042Marked muscular hypertrophy2 CL E G H
HP:0030236HP:0009129Upper limb amyotrophy2 CL E G H
HP:0030236HP:0008964Nonprogressive muscular atrophy2 CL E G H
HP:0030236HP:0003697Scapuloperoneal amyotrophy2 CL E G H
HP:0030236HP:0000158Macroglossia2 CL E G H
HP:0030236HP:0100854Aplasia of the musculature2 CL E G H
HP:0030236HP:0003693Distal amyotrophy2 CL E G H
HP:0030236HP:0003720Generalized muscle hypertrophy2 CL E G H
HP:0030236HP:0007210Lower limb amyotrophy2 CL E G H
HP:0030236HP:0008968Muscle hypertrophy of the lower extremities2 CL E G H
HP:0030236HP:0007126Proximal amyotrophy2 CL E G H
HP:0030236HP:0012892Facial muscle hypertrophy2 CL E G H
HP:0030236HP:0012893Neck muscle hypertrophy2 CL E G H
HP:0030236HP:0009049Peroneal muscle atrophy2 CL E G H
HP:0030236HP:0012895Scapular muscle hypertrophy2 CL E G H
HP:0030236HP:0040265Upper limb muscle hypertrophy2 CL E G H
HP:0030236HP:0003797Limb-girdle muscle atrophy2 CL E G H
HP:0030236HP:0008952Shoulder muscle hypoplasia3 CL E G H
HP:0030236HP:0003724Shoulder girdle muscle atrophy3 CL E G H
HP:0030236HP:0007280Acute infantile spinal muscular atrophy3 CL E G H
HP:0030236HP:0009751Aplasia of the pectoralis major muscle3 CL E G H
HP:0030236HP:0030284Triangular tongue3 CL E G H
HP:0030236HP:0009783Biceps aplasia3 CL E G H
HP:0030236HP:0008962Calf muscle hypoplasia3 CL E G H
HP:0030236HP:0007149Distal upper limb amyotrophy3 CL E G H
HP:0030236HP:0009788Quadriceps aplasia3 CL E G H
HP:0030236HP:0008946Pelvic girdle amyotrophy3 CL E G H
HP:0030236HP:0100875Hemimacroglossia3 CL E G H
HP:0030236HP:0003634Amyoplasia3 CL E G H
HP:0030236HP:0009037Segmental spinal muscular atrophy3 CL E G H
HP:0030236HP:0009016Upper limb muscle hypoplasia3 CL E G H
HP:0030236HP:0008981Calf muscle hypertrophy3 CL E G H
HP:0030236HP:0008944Distal lower limb amyotrophy3 CL E G H
HP:0030236HP:0008955Progressive distal muscular atrophy3 CL E G H
HP:0030236HP:0040266Proximal upper limb muscle hypertrophy3 CL E G H
HP:0030236HP:0003733Thigh hypertrophy3 CL E G H
HP:0030236HP:0006959Proximal spinal muscular atrophy3 CL E G H
HP:0030236HP:0001467Aplasia/Hypoplasia involving the musculature of the upper limbs3 CL E G H
HP:0030236HP:0008984Neck muscle hypoplasia3 CL E G H
HP:0030236HP:0009786Aplasia/Hypoplasia of the musculature of the thigh3 CL E G H
HP:0030236HP:0040267Distal upper limb muscle hypertrophy3 CL E G H
HP:0030236HP:0008956Proximal lower limb amyotrophy3 CL E G H
HP:0030236HP:0006785Limb-girdle muscular dystrophy3 CL E G H
HP:0030236HP:0009067Progressive spinal muscular atrophy3 CL E G H
HP:0030236HP:0008998Pectoralis hypoplasia3 CL E G H
HP:0030236HP:0007181Interosseus muscle atrophy3 CL E G H
HP:0030236HP:0009785Triceps aplasia3 CL E G H
HP:0030236HP:0009055Generalized limb muscle atrophy3 CL E G H
HP:0030236HP:0008948Proximal upper limb amyotrophy3 CL E G H
HP:0030236HP:0009016Upper limb muscle hypoplasia4 CL E G H
HP:0030236HP:0011399Tibialis atrophy4 CL E G H
HP:0030236HP:0009130Hand muscle atrophy4 CL E G H
HP:0030236HP:0009787Aplasia/Hypoplasia of the quadriceps4 CL E G H
HP:0030236HP:0009050Quadriceps muscle atrophy4 CL E G H
HP:0030236HP:0030241Hypoplasia of deltoid muscle4 CL E G H
HP:0030236HP:0001468Aplasia/Hypoplasia involving the musculature of the upper arm4 CL E G H
HP:0030236HP:0003426First dorsal interossei muscle atrophy4 CL E G H
HP:0030236HP:0001464Aplasia/Hypoplasia involving the shoulder musculature4 CL E G H
HP:0030236HP:0030239Hypoplasia of the upper arm musculature4 CL E G H
HP:0030236HP:0008954Intrinsic hand muscle atrophy5 CL E G H
HP:0030236HP:0009784Aplasia/Hypoplasia of the triceps5 CL E G H
HP:0030236HP:0040191Rectus femoris muscle atrophy5 CL E G H
HP:0030236HP:0009782Aplasia/Hypoplasia of the biceps5 CL E G H
HP:0030236HP:0100855Triceps hypoplasia5 CL E G H
HP:0030236HP:0500023Shoulder muscle aplasia5 CL E G H
HP:0030236HP:0009007Biceps hypoplasia5 CL E G H
HP:0030236HP:0030239Hypoplasia of the upper arm musculature5 CL E G H
HP:0030236HP:0008952Shoulder muscle hypoplasia5 CL E G H
HP:0030236HP:0003393Thenar muscle atrophy5 CL E G H
HP:0030236HP:0009788Quadriceps aplasia5 CL E G H
HP:0030236HP:0100855Triceps hypoplasia6 CL E G H
HP:0030236HP:0030241Hypoplasia of deltoid muscle6 CL E G H
HP:0030236HP:0009007Biceps hypoplasia6 CL E G H
HP:0030236HP:0009785Triceps aplasia6 CL E G H
HP:0030236HP:0009783Biceps aplasia6 CL E G H


Genes (569) :AARS ABCA1 ABCC9 ABHD12 ACADSB ACTA1 ACTB ADK ADSL ADSSL1 AFG3L2 AGA AGL AGPAT2 AGRN AGTPBP1 AIFM1 AIP AK9 AKT1 ALDH18A1 ALS2 AMPD2 ANG ANO5 ANTXR2 ANXA11 AP1S2 APTX AR ARID1A ARL6 ARSB ARSI ASAH1 ASCC1 ATAD3A ATL1 ATM ATP6V0A2 ATP6V1B2 ATP7A ATP8 ATP8A2 ATRX ATXN1 ATXN2 ATXN3 B3GALNT2 B3GALT6 B4GALNT1 B4GALT7 B4GAT1 BAG3 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BICD2 BIN1 BMP1 BSCL2 C12ORF65 C19ORF12 C8ORF37 C9ORF72 CA8 CAPN1 CAPN3 CAV1 CAV3 CAVIN1 CCDC115 CCDC47 CCNF CCT5 CD28 CD59 CDCA7 CDKN1C CEP126 CEP290 CFAP410 CHAT CHCHD10 CHMP2B CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CIDEC CIZ1 CLCN1 CLIP2 CNTNAP1 COASY COG7 COL12A1 COL13A1 COL25A1 COL2A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COLQ COX1 COX2 COX3 CPLANE1 CPT1A CPT1C CRPPA CTLA4 CTNS CUL4B CYP7B1 DAG1 DAO DARS2 DCAF8 DCTN1 DES DGUOK DHH DHTKD1 DMD DMPK DNA2 DNAJB2 DNAJC19 DNM2 DNMT3B DOK7 DPM3 DUOX2 DUOXA2 DUX4 DVL1 DVL3 DYNC1H1 DYSF EGR2 EHMT1 ELN EMD ENTPD1 EPHA4 ERBB3 ERBB4 ERGIC1 ERLIN1 ERLIN2 EXOSC3 EXOSC8 FAM111B FAM126A FARS2 FBLN5 FBN2 FBXL4 FBXO38 FDX2 FGD4 FHL1 FIBP FIG4 FKBP14 FKRP FKTN FLNA FLNC FLRT1 FLVCR1 FOS FOXE1 FOXG1 FRG1 FTO FUCA1 FUS FXN GAA GAN GARS GATA1 GBA2 GBE1 GDAP1 GFPT1 GJB1 GLB1 GLE1 GMPPB GNAS GNE GNPTAB GPC3 GPC4 GPR101 GPR35 GTF2I GTF2IRD1 GYG1 H19 H19-ICR HACD1 HARS HELLS HEXB HINT1 HMGA2 HNRNPA1 HNRNPA2B1 HNRNPDL HRAS HSPB1 HSPB3 HSPB8 HSPG2 HYMAI IBA57 IDS IDUA IFRD1 IFT140 IFT172 IFT27 IGF2 IGHMBP2 INF2 INPP5E INPP5K INSR ITGA7 IYD JPH1 KBTBD13 KCNA1 KCNH1 KCNQ1 KCNQ1OT1 KDM5C KIF1A KIF1B KIF1C KLC2 KLHL40 KLHL41 KLHL9 KLLN KY LAMA2 LAMB2 LAMP2 LARGE1 LEMD3 LIMK1 LIMS2 LIPE LITAF LMNA LMNB2 LMOD3 LMX1B LRP4 LRSAM1 LTBP4 LZTFL1 MAFB MAG MAN2B1 MAP3K20 MAP3K7 MATR3 MCCC2 MDH2 MECP2 MED13L MED25 MFN2 MGME1 MKKS MKS1 MME MPZ MRE11 MST1 MSTN MSTO1 MTAP MTM1 MTMR14 MTMR2 MUSK MYBPC1 MYF6 MYH14 MYH7 MYL2 MYMK MYO9A MYOD1 MYOT MYPN NAGA NALCN NARS2 NBN ND1 ND4 ND5 ND6 NDE1 NDRG1 NDUFA12 NDUFA9 NDUFAF6 NDUFS4 NEB NEFH NEFL NEK1 NEU1 NGLY1 NIPA1 NKX2-1 NKX2-5 NOP56 NPHP1 OGDH OPA1 OPTN PAX8 PDE11A PDE8B PEX1 PEX10 PEX5 PEX6 PEX7 PFKM PFN1 PGAP1 PHF6 PHGDH PHKA1 PHYH PIEZO2 PIGS PIGW PIK3CA PIK3R2 PIP5K1C PLAGL1 PLEC PLEKHG5 PLIN1 PLOD3 PLP1 PLXND1 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 POLG POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 POP1 POU1F1 PPARG PPARGC1A PQBP1 PRKACA PRKAG2 PRKAR1A PRPH PRPS1 PRUNE1 PRX PSAT1 PSMB8 PTEN PUS1 PYCR2 PYROXD1 RAB7A RAPSN RBM28 RBM8A REEP1 RETREG1 REV3L RFC2 RNASEH1 RNF125 ROR2 RPS6KA3 RRM2B RTN2 RXYLT1 RYR1 SACS SALL4 SBF2 SCN4A SCN9A SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SELENON SEPTIN9 SETBP1 SETX SFXN4 SGCA SGCB SGCD SGCG SH3TC2 SHOX SIGMAR1 SIL1 SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC25A19 SLC25A4 SLC26A4 SLC33A1 SLC39A13 SLC46A1 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC7A7 SLC9A6 SMAD4 SMARCA4 SMARCB1 SMCHD1 SMN1 SNAP25 SNIP1 SNX14 SOD1 SOX10 SPART SPAST SPEG SPG11 SPRTN SPTBN4 SPTLC1 SQSTM1 SRY STAC3 STIM1 STUB1 SUCLA2 SUCLG1 SURF1 SYNE1 SYNE2 SYT2 TAF15 TARDBP TBC1D23 TBCD TBCE TBCK TBK1 TBL2 TBX3 TBX5 TCAP TCF4 TDP1 TFG TG TGFB1 THRA THRB TIA1 TK2 TMEM43 TNFRSF1B TNNT1 TNXB TPI1 TPM2 TPM3 TPO TRAF3IP2 TRAPPC11 TREM2 TRHR TRIM32 TRIP4 TRMU TRNE TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV4 TSHB TSHR TTC19 TTC8 TTN TTPA TUBB2B TYMP UBA1 UBE3A UBQLN2 UNC13A USP8 VAMP1 VAPB VCP VLDLR VMA21 VPS13A VPS13D VPS33A VRK1 WARS2 WASHC5 WDPCP WDR81 WNK1 WNT5A WRN YARS YARS2 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZFYVE26

Diseases (629) :613287 97244 171430 171433 614300 103050 614487 528 98913 618276 101078 238329 300816 219090 447760 616586 247604 401805 615686 803 2028 85329 85335 481 110 100 480 1766 98755 164400 899 75496 101006 618291 614856 320375 613559 105550 488594 616907 606072 613327 616828 3162 612300 615048 614696 233 616313 608931 2990 160800 255700 616286 608779 2380 158810 255600 98915 550 156 616282 352479 219800 611105 617070 168563 615025 98896 98895 273 614881 160150 269 615683 607598 1143 401785 615681 611225 614678 615704 615471 300695 612577 300179 614557 253800 611588 305620 609033 232500 230650 1486 611890 253310 219080 616199 268800 137200 94063 615422 613376 800 255800 98771 559 508 246200 613204 970 617114 616827 2348 157973 79474 151660 616165 617760 210210 617339 312750 101082 618184 614160 112250 596 614915 1358 254940 615419 616239 647 605013 618244 618239 252010 812 256550 100988 276198 614153 31 616896 189439 773 371 614808 127 2671 300559 2461 603387 611369 254361 613723 613877 312920 570 101081 613402 614932 157640 613157 613158 99014 617481 614895 2615 256040 109 616420 612079 610250 329336 616479 192 117000 255320 682 99736 99734 168300 608390 162100 357043 615578 253700 314795 127300 248800 218000 59 613710 615418 612539 90045 97229 222700 300243 2588 139210 105400 616200 162400 617158 616437 255995 1933 245400 616684 616040 612069 617695 617193 616439 1328 131300 617069 230839 868 615512 609285 615157 178464 96 608627 435387 613954 310440 200150 617710 902 205400 965 612674 610006 79107 617030 313772 93 208400 232400 98914 963 201 601162 205100 615809 611895 206549 399096 208920 614607 253200 401815 159950 616867 496790 617183 613708 278250 3473 616455 300489 847 301040 309580 183090 109150 609195 612954 904 615290 169186 255200 600794 320370 614298 615043 275872 267 253600 618129 618268 139578 256840 2268 130650 435651 420492 615643 75840 610 254090 265050 370980 616052 300354 100986 610100 607641 181400 329314 615156 66634 606482 242860 994 254300 208150 95716 180700 158600 254130 606768 607678 605253 145900 96147 610253 616081 610532 617046 608895 615575 251900 300280 617107 606612 607155 1826 95713 261144 612938 230000 608030 232300 256850 601472 190685 352641 607831 607706 608340 214400 610542 302800 602 605820 252500 373 312870 171 324442 52430 3071 218040 99940 606595 608673 96191 468661 309900 93473 266920 604320 213300 101010 610357 118210 397946 611302 609541 496689 258 300257 608840 435660 601098 280365 264 181350 605588 613205 616540 614436 248500 616789 605589 609260 601152 352447 615084 497764 617018 3115 607791 607677 607736 118200 180800 604391 617675 601382 614369 324604 437572 255160 608358 98911 609200 182920 171881 79279 609241 601455 618247 399103 616924 607684 607734 95712 95720 218700 214100 614871 616716 95433 401820 618143 616025 611067 118300 118220 215470 612020 275400 258450 603041 86812 613155 613150 613156 617396 613038 79083 93947 261740 311070 65285 617258 600882 614751 616260 268310 100993 98905 98 270550 604563 684 99735 3208 602771 798 269150 606002 608099 604286 601287 353 601596 605726 300523 171863 614707 274400 158580 614609 614608 253400 271150 253550 253300 614501 616354 609136 101000 275900 100985 602099 617519 1772 160565 412057 612998 612999 496756 617207 616900 94124 607250 604484 97927 614450 604454 254875 609560 614302 98902 605355 606408 615527 99832 616866 254864 2596 1216 600175 181405 90674 275100 90673 609 301830 105830 182980 167320 607317 617303 607596 100989 608323 613561 259050 3454 314580 235730 100996 270700 2020 171439 97240 64755 611307 613319 313200 2590 100984 182600 276241 276244 276238 363454 169189 488650 614321 65684 253290 444099 263494 98863 121050 609311 34515 614065 320406 158900 101075 1175 615351 615424 609115 614455 37612 300534 618138 1306 98853 98855 161200 459056 600 99947 280356 98908 139480 618135 2598 600462 274000 101011 607323 521411 466794 119 219 618197 3138 142900 601954 431329 609284 369840 369847 615356 254110 606071 611705 2388 616852 100998 139536 270685 95 99944 147750 211530 178400 488333 399081 615273 612394 178145 157965 612350 604360 329478
 

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