Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of limbs (HP:0040064)help
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Abnormality of the lower limb (HP:0002814)help
Parent Node:
expand
Abnormality of the musculature of the limbs (HP:0009127)help
..Starting node
..expand
Abnormality of the musculature of the lower limbs (HP:0001437)help
Term ID: 1437
Name: Abnormality of the musculature of the lower limbs
Synonym:
Definition:
Comments:
Reference: HP:0001437
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the calf musculature (HP:0001430) help
................... HP:0003707 Calf muscle pseudohypertrophy
................... HP:0008962 Calf muscle hypoplasia
................... HP:0008981 Calf muscle hypertrophy
................... HP:0009049 Peroneal muscle atrophy
................... HP:0009054 Scapuloperoneal myopathy
........expandAbnormality of the foot musculature (HP:0001436) help
................... HP:0008116 Flexion limitation of toes
................... HP:0009027 Foot dorsiflexor weakness
................... HP:0009031 Amyotrophy of ankle musculature
................... HP:0011916 Toe extensor amyotrophy
........expandAbnormality of the musculature of the thigh (HP:0001441) help
................... HP:0008956 Proximal lower limb amyotrophy
................... HP:0009786 Aplasia/Hypoplasia of the musculature of the thigh
........expandLower limb hypertonia (HP:0006895) help
........expandMuscle hypertrophy of the lower extremities (HP:0008968) help
................... HP:0003733 Thigh hypertrophy
................... HP:0008981 Calf muscle hypertrophy
........expandLeg muscle stiffness (HP:0008969) help
........expandProximal muscle weakness in lower limbs (HP:0008994) help
................... HP:0003731 Quadriceps muscle weakness

 Sister Nodes: 
..expandAbnormality of the musculature of the upper limbs (HP:0001446) help
..expandAplasia/Hypoplasia involving the musculature of the extremities (HP:0009128) help
..expandAsymmetric limb muscle stiffness (HP:0007156) help
..expandGeneralized weakness of limb muscles (HP:0009028) help
..expandLimb hypertonia (HP:0002509) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandProximal limb muscle stiffness (HP:0007066) 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:0001437HP:0001437Abnormality of the musculature of the lower limbs0DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008968Muscle hypertrophy of the lower extremities1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008969Leg muscle stiffness1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0001436Abnormality of the foot musculature1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0001441Abnormality of the musculature of the thigh1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0410260Asymmetrical gluteal crease1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0001430Abnormality of the calf musculature1DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0003707Calf muscle pseudohypertrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009031Amyotrophy of ankle musculature2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009786Aplasia/Hypoplasia of the musculature of the thigh2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008956Proximal lower limb amyotrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008962Calf muscle hypoplasia2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008981Calf muscle hypertrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009054Scapuloperoneal myopathy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0011916Toe extensor amyotrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0003733Thigh hypertrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009049Peroneal muscle atrophy2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0008116Flexion limitation of toes2DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009050Quadriceps muscle atrophy3DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009787Aplasia/Hypoplasia of the quadriceps3DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0009788Quadriceps aplasia4DKK1 CL E G H22943268882ORPHA0242891605189
HP:0001437HP:0040191Rectus femoris muscle atrophy4DKK1 CL E G H22943268882ORPHA0242891605189


Genes (78) :AAAS ACTA1 ANO10 ANO5 AR ATP13A2 ATP6 BIN1 CAPN3 CAV3 CHCHD10 CIDEC CLCN1 CRPPA DES DKK1 DMD DNAJC6 DNM2 DPM3 DYNC1H1 EMD FBN2 FHL1 FKRP FKTN FLNC FRG1 GMPPA HACD1 HINT1 HNRNPDL ITGA7 KCNA1 KIF1A KLHL9 LAMA2 LIMS2 LMNA LMX1B LTBP4 MAP3K20 MATR3 MTMR14 MYF6 MYH7 MYL2 PLEC PLIN1 PMP22 PODXL POMGNT2 POMT1 PPARG REEP1 RYR1 SELENON SGCA SGCB SGCD SGCG SLC25A1 SPAST SRY SYNE1 SYNE2 SYNJ1 TCAP TMEM43 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN VAMP1 WASHC5 ZFYVE26

Diseases (86) :268882 869 284289 306674 320360 169189 255700 391411 614065 101010 399081 280365 600 59135 100985 1772 251282 108600 100996 2020 206549 399096 611307 613319 313200 267 488650 614321 615048 435651 352479 616052 181400 98896 300376 310200 263494 158600 98863 121050 300695 34515 606612 607155 253800 158900 324442 609115 37612 618138 616827 79474 98855 98853 181350 617760 437572 160500 608358 181430 254361 280356 101081 618135 86812 79083 101011 62 608099 119 604286 219 601287 353 253700 618197 601954 254110 600175 181405 178464 609 611705 100989 161200 98905
 

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