RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Neurologic Gait Disorders
Accession: DOID:9006230
browse the term
Definition: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.
Synonyms: exact_synonym: Broadened Gait; Charcot Gait; Charcot Gaits; Charcot's Gait; Charcots Gait; Drop Foot Gait; Duck Gait; Festinating Gait; Frontal Gait; Hemiplegic Gait; Hysterical Gait; Marche a Petit Pas; Neurologic Ambulation Disorder; Neurologic Ambulation Disorders; Neurologic Gait Disorder; Neurologic Gait Dysfunction; Neurologic Gait Dysfunctions; Neurologic Locomotion Disorder; Neurologic Locomotion Disorders; Rapid Fatigue of Gait; Reeling Gait; Rigid Gait; Scissors Gait; Sensorimotor Gait Disorder; Sensorimotor Gait Disorders; Shuffling Gait; Shuffling Gaits; Spastic Gait; Stumbling Gait; Unsteady Gait; athetotic gait; widebased gait
primary_id: MESH:D020233
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Spastic gait
ClinVar
PMID:8535452 PMID:9242200 PMID:9846054 PMID:21966424 PMID:22479560 PMID:25741868 PMID:26454440 PMID:28481932 PMID:28492532 PMID:31104286 More...
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spastic gait
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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L1cam
L1 cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7920660
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Msl3
MSL complex subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30224647
NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21867702
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Ttc19
tetratricopeptide repeat domain 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21278747
NCBI chr10:46,969,723...46,997,607
Ensembl chr10:46,969,727...46,997,789
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Atxn7
ataxin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25664129
NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106
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Chat
choline O-acetyltransferase
ISO
ClinVar Annotator: match by term: Gait ataxia
ClinVar
PMID:25741868
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Gait ataxia
ClinVar
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Gch1
GTP cyclohydrolase 1
ISO
ClinVar Annotator: match by term: Gait ataxia
ClinVar
PMID:25741868
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Gait ataxia
ClinVar
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Wwox
WW domain-containing oxidoreductase
IAGP
compared to wild type and heterozygotes
RGD
PMID:17803050
RGD:150429978
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:17803050
RGD:150429978
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Tceal1
transcription elongation factor A like 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
OMIM ClinVar
PMID:25741868
NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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Nars1
asparaginyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32738225 PMID:32788587 PMID:33001864
NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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Nars1
asparaginyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32738225
NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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Dhps
deoxyhypusine synthase
ISO
ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment
OMIM ClinVar
PMID:25741868 PMID:30661771
NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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Wdr83
WD repeat domain 83
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment
ClinVar
PMID:25741868 PMID:30250217
NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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Wdr83os
WD repeat domain 83 opposite strand
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment
ClinVar
PMID:25741868 PMID:30250217
NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
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