Human Phenotype Ontology 
Grandparent Node:
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Skeletal muscle atrophy (HP:0003202)help
Parent Node:
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Distal amyotrophy (HP:0003693)help
..Starting node
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Interosseus muscle atrophy (HP:0007181)help
Term ID: 7181
Name: Interosseus muscle atrophy
Synonym: Interosseous muscular atrophy
Definition: Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.
Comments:
Reference: HP:0007181
Genes and Diseases:
 
       Child Nodes:
........expandFirst dorsal interossei muscle atrophy (HP:0003426) help

 Sister Nodes: 
..expandDistal lower limb amyotrophy (HP:0008944) help
..expandDistal upper limb amyotrophy (HP:0007149) help
..expandProgressive distal muscular atrophy (HP:0008955) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007181HP:0007181Interosseus muscle atrophy0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0007181HP:0007181Interosseus muscle atrophy0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0007181HP:0007181Interosseus muscle atrophy0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0007181HP:0007181Interosseus muscle atrophy0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0007181HP:0007181Interosseus muscle atrophy0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0007181HP:0007181Interosseus muscle atrophy0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0007181HP:0007181Interosseus muscle atrophy0SLC5A6 CL E G H888411041OMIM:619903
HP:0007181HP:0007181Interosseus muscle atrophy0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0007181HP:0003426First dorsal interossei muscle atrophy1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0007181HP:0003426First dorsal interossei muscle atrophy1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0007181HP:0003426First dorsal interossei muscle atrophy1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0007181HP:0003426First dorsal interossei muscle atrophy1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0007181HP:0003426First dorsal interossei muscle atrophy1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0007181HP:0003426First dorsal interossei muscle atrophy1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87


Genes (5) :BSCL2 GARS1 REEP1 SLC5A6 TOR1AIP1

Diseases (6) :ORPHA:139536 OMIM:270685 OMIM:601472 OMIM:600794 OMIM:619903 OMIM:617072
 

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