Human Phenotype Ontology 
Grandparent Node:
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Distal amyotrophy (HP:0003693)help
Grandparent Node:
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Lower limb amyotrophy (HP:0007210)help
Parent Node:
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Distal lower limb amyotrophy (HP:0008944)help
..Starting node
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Tibialis anterior muscle atrophy (HP:0011399)help
Term ID: 11399
Name: Tibialis anterior muscle atrophy
Synonym: Sharp shin sign; Tibialis anterior amyotrophy; Tibialis muscle degeneration
Definition: Wasting of the tibialis anterior muscle.
Comments:
Reference: HP:0011399
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011399HP:0011399Tibialis anterior muscle atrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0011399HP:0011399Tibialis anterior muscle atrophy0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0011399HP:0011399Tibialis anterior muscle atrophy0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0011399HP:0011399Tibialis anterior muscle atrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200


Genes (4) :DYSF MTRFR MYH7 RYR1

Diseases (4) :ORPHA:45448 OMIM:615035 OMIM:160500 ORPHA:98905
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.