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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 chrNW_004955489:138,600...143,112 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 chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591
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 ISO OMIM NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141
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 chrNW_004955414:6,632,434...6,656,633
Ensembl chrNW_004955414:6,628,216...6,656,633
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 chrNW_004955431:7,860,706...7,872,972 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 chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
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 chrNW_004955432:18,619,418...18,644,876
Ensembl chrNW_004955432:18,619,413...18,639,151
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 chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726
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 chrNW_004955520:1,139,568...1,143,149
Ensembl chrNW_004955520:1,135,563...1,143,192
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 chrNW_004955581:291,537...294,752 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
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 chrNW_004955451:16,115,137...16,119,261
Ensembl chrNW_004955451:16,114,454...16,118,622
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 chrNW_004955496:3,073,480...3,108,012
Ensembl chrNW_004955496:3,072,341...3,108,672
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 chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126 member A ISO OMIM NCBI chrNW_004955410:25,274,360...25,342,112
Ensembl chrNW_004955410:25,227,280...25,342,106
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 chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552
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 chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
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 chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479
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 chrNW_004955437:14,435,822...14,442,662 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 chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479
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 chrNW_004955408:21,536,426...21,574,683 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 chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
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 chrNW_004955581:291,537...294,752 JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
JBrowse link
G Plp1 proteolipid protein 1 ISO OMIM NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
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, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
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 chrNW_004955548:825,208...829,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11866
    Developmental Diseases 8479
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7455
        genetic disease 7047
          Nervous System Heredodegenerative Disorders 1761
            Hereditary Central Nervous System Demyelinating Diseases 40
              hypomyelinating leukodystrophy 24
                Hypomyelinating Leukodystrophy 15 1
                Hypomyelinating Leukodystrophy 16 1
                Hypomyelinating Leukodystrophy 17 1
                Hypomyelinating Leukodystrophy 18 1
                Hypomyelinating Leukodystrophy 19 0
                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 1
                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 11866
    disease of anatomical entity 11420
      nervous system disease 9342
        central nervous system disease 7895
          brain disease 7286
            Metabolic Brain Diseases 522
              Metabolic Brain Diseases, Inborn 458
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    Hypomyelinating Leukodystrophy 15 1
                    Hypomyelinating Leukodystrophy 16 1
                    Hypomyelinating Leukodystrophy 17 1
                    Hypomyelinating Leukodystrophy 18 1
                    Hypomyelinating Leukodystrophy 19 0
                    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 1
                    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