Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of facial soft tissue (HP:0011799)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Abnormality of facial musculature (HP:0000301)help
Term ID: 301
Name: Abnormality of facial musculature
Synonym: Abnormality of facial muscles; Facial muscle issue
Definition: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0000301
Genes and Diseases:
 
       Child Nodes:
........expandFacial hypotonia (HP:0000297) help
........expandFacial myokymia (HP:0000317) help
........expandHypomimic face (HP:0000338) help
........expandSpasticity of facial muscles (HP:0002491) help
........expandHypoplasia of facial musculature (HP:0004660) help
........expandFacial muscle hypertrophy (HP:0012892) help
........expandWeakness of facial musculature (HP:0030319) help
................... HP:0007209 Facial paralysis
................... HP:0010628 Facial palsy
................... HP:0012507 Weakness of orbicularis oculi muscle
........expandAbnormality of jaw muscles (HP:0045037) help
................... HP:0012392 Jaw hyporeflexia
................... HP:0410011 Abnormality of masticatory muscle
........expandAbnormality of nasal musculature (HP:0430018) help
................... HP:3000009 Abnormality of nasalis muscle
................... HP:3000014 Abnormality of procerus muscle
........expandAbnormality of muscle of facial expression (HP:0430019) help
................... HP:0430020 Abnormality of levator labii superioris alaeque nasi muscle
................... HP:3000007 Abnormality of mentalis muscle
................... HP:3000010 Abnormality of orbicularis oris muscle
................... HP:3000015 Abnormality of risorius muscle
................... HP:3000018 Abnormality of zygomaticus major muscle
................... HP:3000020 Abnormality of zygomaticus minor muscle
................... HP:3000028 Abnormality of depressor anguli oris muscle
................... HP:3000029 Abnormality of depressor labii inferioris
................... HP:3000070 Abnormality of levator anguli oris
................... HP:3000071 Abnormality of levator labii superioris
........expandAbnormality of mylohyoid muscle (HP:3000008) help
........expandAbnormality of platysma (HP:3000013) help

 Sister Nodes: 
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal muscle morphology (HP:0011805) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormality of axial muscles (HP:0040286) help
..expandAbnormality of hyoglossus muscle (HP:3000051) help
..expandAbnormality of musculature of pharynx (HP:0430015) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of skeletal muscles (HP:0040290) help
..expandAbnormality of the abdominal musculature (HP:0010991) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the chest musculature (HP:0410167) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the neck (HP:0011006) help
..expandAbnormality of the musculature of the pelvis (HP:0001469) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the shoulder musculature (HP:0410169) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle haemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) 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:0000301HP:0000301Abnormality of facial musculature0 CL E G H
HP:0000301HP:0000301Abnormality of facial musculature1 CL E G H
HP:0000301HP:0000301Abnormality of facial musculature2 CL E G H
HP:0000301HP:0000301Abnormality of facial musculature3 CL E G H
HP:0000301HP:0000301Abnormality of facial musculature4 CL E G H


Genes (210) :ABCA1 ACADS ACTA1 ADA2 ADCY5 ADCY6 ADSSL1 AGRN AK9 ALG14 ALG2 ALS2 AMER1 AMPD2 ANKH ANO5 AP4B1 AP4E1 AP4M1 AP4S1 ASAH1 ATP13A2 ATP1A3 ATP6AP2 ATXN1 BAG3 BIN1 BMS1 BTNL2 C12ORF65 CACNA1S CAPN3 CC2D1A CFL2 CHAMP1 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCF1 CLCN7 CNTNAP1 COL12A1 COL13A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ CRLF1 CRPPA CRYAB DCTN1 DES DLL4 DMPK DNA2 DNAJB6 DNAJC13 DNAJC6 DNM2 DOK7 DPAGT1 DSE EIF4G1 ERLIN2 EYA1 FBXO7 FKRP FKTN FRG1 FTL GAN GBA GFPT1 GIGYF2 GJA1 GJC2 GMPPB GNE HLA-DRB1 HOXB1 KBTBD13 KDM5C KLHL40 KLHL41 KY LAMA2 LAMB2 LARGE1 LMOD3 LRP4 LRP5 LRRK2 MECP2 MEGF10 MGME1 MSTO1 MTM1 MTMR2 MUSK MYH7 MYMK MYO9A MYOT MYPN NARS2 NEB NEFL NF2 NGLY1 NOD2 PABPN1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PLA2G6 PLAA PLEC PLXND1 PODXL POGZ POLG POLG2 POMT1 POMT2 PPP2R1A PPP2R2B PPP2R5D PRKCG PTDSS1 PYROXD1 RAB11B RAPSN REV3L RNASEH1 RRM2B RYR1 SALL4 SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SIX1 SIX5 SLC12A6 SLC18A2 SLC18A3 SLC25A1 SLC25A4 SLC30A10 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SMCHD1 SNAP25 SNCA SNX10 SOST SPEG SPR SPTBN2 SPTBN4 SQSTM1 STRADA SUCLA2 SYNJ1 SYT2 TBCD TCIRG1 TECPR2 TGFB1 TK2 TNFSF11 TPM2 TPM3 TRIM32 TRNE TRPV4 TTN TUBB3 TWNK TXNL4A UBA1 UNC80 VAMP1 VCP VPS13B VPS35 XYLT2 YME1L1 ZC4H2

Diseases (218) :324588 606703 205100 606353 615809 280763 613744 614067 513436 306674 71517 128235 300423 608443 616579 457050 411602 391411 615539 209951 171695 260300 606159 300534 300260 300055 352447 502423 324604 181430 266 399103 615273 199351 617527 616364 254892 616362 604326 616355 605361 617807 329336 684 352649 309854 238455 70594 600224 611087 617193 320385 615031 254875 608572 616801 216550 85194 201470 97240 255310 616852 161800 182410 617030 98913 615120 353327 2780 300373 1522 123000 206549 611307 159950 98755 612954 255200 1114 797 253600 616209 138 214800 602541 608930 616313 616322 616323 616324 608931 610313 53 166600 611490 616470 616720 175780 254090 255600 98915 272430 607641 601419 273 615156 603511 160150 254300 52429 113650 107 606612 158900 643 256850 610542 218400 608804 602 614744 615348 617114 258 608840 616165 3152 614305 2790 178377 3416 614399 615084 310400 601382 616325 59135 437572 160500 1358 254940 171881 617336 616239 256030 607684 637 90340 164300 772 570 254886 157640 258450 610131 613155 613156 2658 617258 178145 255320 607323 602771 219 601596 617239 609283 144755 97229 614707 211530 617143 158901 615085 269500 615959 617519 617158 259700 1328 617069 259710 254110 2596 181405 611705 600638 301830 167320 314580 31150 205400 171433 171430 171439 171436 616287 98914 169186 613559 423 618186 616286 370980 399058 160900 254361 98905 521411 218000 211500 122860 612073 609560 609285 609284 329478 617302
 

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