Human Phenotype Ontology 
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Abnormality of the spinal cord (HP:0002143)help
Parent Node:
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Atrophy/Degeneration affecting the central nervous system (HP:0007367)help
..Starting node
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Atrophy/Degeneration involving the spinal cord (HP:0007344)help
Term ID: 7344
Name: Atrophy/Degeneration involving the spinal cord
Synonym: Atrophic and degenerative changes in the spinal cord
Definition:
Comments:
Reference: HP:0007344
Genes and Diseases:
 
       Child Nodes:
........expandAtrophy of the spinal cord (HP:0006827) help
................... HP:0010873 Cervical spinal cord atrophy

 Sister Nodes: 
..expandAtrophy/Degeneration affecting the brainstem (HP:0007366) help
..expandAtrophy/Degeneration involving the corticospinal tracts (HP:0007372) help
..expandBrain atrophy (HP:0012444) help
..expandCentral nervous system degeneration (HP:0007009) help
..expandIncreased cerebral lipofuscin (HP:0011813) help
..expandMotor neuron atrophy (HP:0007373) help
..expandNeurodegeneration (HP:0002180) help
..expandNeuronal loss in central nervous system (HP:0002529) help
..expandSenile plaques (HP:0100256) 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:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39103
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0007344HP:0007344Atrophy/Degeneration involving the spinal cord0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0007344HP:0006827Atrophy of the spinal cord1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0007344HP:0006827Atrophy of the spinal cord1ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0007344HP:0006827Atrophy of the spinal cord1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0007344HP:0006827Atrophy of the spinal cord1CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040283 - Occasional57
HP:0007344HP:0006827Atrophy of the spinal cord1DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040282 - Frequent3
HP:0007344HP:0006827Atrophy of the spinal cord1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0007344HP:0006827Atrophy of the spinal cord1FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0007344HP:0006827Atrophy of the spinal cord1GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0007344HP:0006827Atrophy of the spinal cord1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0007344HP:0006827Atrophy of the spinal cord1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0007344HP:0006827Atrophy of the spinal cord1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0007344HP:0006827Atrophy of the spinal cord1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0007344HP:0006827Atrophy of the spinal cord1MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0007344HP:0006827Atrophy of the spinal cord1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0007344HP:0006827Atrophy of the spinal cord1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0007344HP:0006827Atrophy of the spinal cord1PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39HP:0040282 - Frequent103
HP:0007344HP:0006827Atrophy of the spinal cord1PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0007344HP:0006827Atrophy of the spinal cord1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0007344HP:0006827Atrophy of the spinal cord1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0007344HP:0006827Atrophy of the spinal cord1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040283 - Occasional171
HP:0007344HP:0010873Cervical spinal cord atrophy2FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0007344HP:0010873Cervical spinal cord atrophy2GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0007344HP:0010873Cervical spinal cord atrophy2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0007344HP:0010873Cervical spinal cord atrophy2PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0007344HP:0010873Cervical spinal cord atrophy2SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040283 - Occasional171


Genes (21) :ABCD1 ALDH18A1 CCT5 CYP7B1 DNAJC3 FA2H FXN GFAP LMNB1 LYST MMACHC MORC2 MTHFR NEFL PI4KA PNPLA6 POLG SETX SPG11 SPG7 TWNK

Diseases (22) :ORPHA:139399 ORPHA:447757 OMIM:256840 ORPHA:100986 ORPHA:445062 ORPHA:329308 ORPHA:95 ORPHA:363722 ORPHA:99027 ORPHA:167 ORPHA:79282 ORPHA:466768 ORPHA:395 ORPHA:101085 OMIM:619621 ORPHA:139480 OMIM:612020 OMIM:607459 ORPHA:70595 OMIM:602433 ORPHA:2822 ORPHA:35689
 

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