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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:hypomyelinating leukodystrophy
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Accession:DOID:0060786 term browser browse the term
Definition:A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. (DO)
Synonyms:exact_synonym: HLD
 primary_id: RDO:9002766
 xref: OMIM:PS312080
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chr 7:38,902,705...38,905,924 JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1C RNA polymerase I and III subunit C ISO OMIM NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IEA
ISO
Neuroaxonal dystrophy, VPS11-related OMIA
OMIM
PMID:3410773 PMID:6698879 PMID:6842267 PMID:11699565 PMID:29945969 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIKESHI heat shock protein nuclear import factor hikeshi ISO OMIM NCBI chr21:13,210,356...13,249,595
Ensembl chr21:13,210,362...13,249,565
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UFM1 ubiquitin fold modifier 1 ISO OMIM NCBI chr25:2,427,521...2,547,449
Ensembl chr25:2,386,609...2,547,311
JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM106B transmembrane protein 106B ISO OMIM NCBI chr14:27,140,692...27,166,652
Ensembl chr14:27,140,687...27,161,333
JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chr 6:11,438,768...11,446,307
Ensembl chr 6:11,438,803...11,446,308
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chr 7:40,147,293...40,152,190
Ensembl chr 7:40,147,505...40,153,085
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A ISO OMIM NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO OMIM NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262
JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO OMIM NCBI chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO OMIM NCBI chr32:27,062,812...27,102,654
Ensembl chr32:27,062,950...27,101,977
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO OMIM NCBI chr37:7,010,421...7,025,912 JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr37:10,315,867...10,350,585 JBrowse link
G FAM126A family with sequence similarity 126 member A ISO OMIM NCBI chr14:36,594,263...36,718,960
Ensembl chr14:36,619,971...36,718,895
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB4A tubulin beta 4A class IVa ISO OMIM NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G POLR3B RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar PMID:25741868 PMID:27029625 NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3B RNA polymerase III subunit B ISO OMIM NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARS1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
JBrowse link
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB1 lamin B1 ISO OMIM NCBI chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
JBrowse link
G PLP1 proteolipid protein 1 ISO
IEA
Tremor, X-linked OMIM
OMIA
PMID:343874 PMID:4652629 PMID:4721939 PMID:9035971 NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 NCBI chr  X:77,228,609...77,238,344
Ensembl chr  X:77,231,441...77,239,001
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12734
    Developmental Diseases 9026
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7894
        genetic disease 7458
          Nervous System Heredodegenerative Disorders 1868
            Hereditary Central Nervous System Demyelinating Diseases 43
              hypomyelinating leukodystrophy 26
                Hypomyelinating Leukodystrophy 15 1
                Hypomyelinating Leukodystrophy 16 1
                Hypomyelinating Leukodystrophy 17 1
                Hypomyelinating Leukodystrophy 18 1
                Hypomyelinating Leukodystrophy 19 1
                Pelizaeus-Merzbacher disease + 4
                hypomyelinating leukodystrophy 10 1
                hypomyelinating leukodystrophy 11 1
                hypomyelinating leukodystrophy 12 1
                hypomyelinating leukodystrophy 13 1
                hypomyelinating leukodystrophy 14 1
                hypomyelinating leukodystrophy 2 2
                hypomyelinating leukodystrophy 20 1
                hypomyelinating leukodystrophy 3 1
                hypomyelinating leukodystrophy 4 2
                hypomyelinating leukodystrophy 5 2
                hypomyelinating leukodystrophy 6 1
                hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
                hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 12734
    disease of anatomical entity 12266
      nervous system disease 10005
        central nervous system disease 8431
          brain disease 7787
            Metabolic Brain Diseases 556
              Metabolic Brain Diseases, Inborn 492
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    Hypomyelinating Leukodystrophy 15 1
                    Hypomyelinating Leukodystrophy 16 1
                    Hypomyelinating Leukodystrophy 17 1
                    Hypomyelinating Leukodystrophy 18 1
                    Hypomyelinating Leukodystrophy 19 1
                    Pelizaeus-Merzbacher disease + 4
                    hypomyelinating leukodystrophy 10 1
                    hypomyelinating leukodystrophy 11 1
                    hypomyelinating leukodystrophy 12 1
                    hypomyelinating leukodystrophy 13 1
                    hypomyelinating leukodystrophy 14 1
                    hypomyelinating leukodystrophy 2 2
                    hypomyelinating leukodystrophy 20 1
                    hypomyelinating leukodystrophy 3 1
                    hypomyelinating leukodystrophy 4 2
                    hypomyelinating leukodystrophy 5 2
                    hypomyelinating leukodystrophy 6 1
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
                    hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1
                    hypomyelinating leukodystrophy 9 1
paths to the root