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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.

show annotations for term's descendants           Sort by:
 
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase family, member 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 OMIM
ClinVar		 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 NCBI chr 1:180,904,274...180,908,088
Ensembl chr 1:180,904,293...180,908,088 		JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 OMIM
ClinVar		 PMID:610060 PMID:11013442 PMID:21131976 PMID:25741868 PMID:26151409 PMID:28327206 PMID:29567474 NCBI chr17:46,243,920...46,248,045
Ensembl chr17:46,243,920...46,248,054 		JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:32316234 NCBI chr 9:44,347,749...44,361,673
Ensembl chr 9:44,347,749...44,361,670 		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 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13 ClinVar
OMIM		 PMID:26545878 NCBI chr 7:89,918,685...89,941,223
Ensembl chr 7:89,917,529...89,941,204 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14 ClinVar
OMIM		 PMID:25741868 PMID:28931644 PMID:29868776 PMID:30311386 PMID:32860008 NCBI chr 3:53,853,376...53,863,807
Ensembl chr 3:53,853,376...53,863,830 		JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM		 PMID:25741868 PMID:29576217 NCBI chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16 ClinVar
OMIM		 PMID:25741868 PMID:29186371 PMID:29444210 NCBI chr 6:13,069,759...13,089,269
Ensembl chr 6:13,069,759...13,089,269 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17 ClinVar
OMIM		 PMID:29215095 NCBI chr 5:143,902,704...143,909,839
Ensembl chr 5:143,902,704...143,909,847 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar		 PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr 1:182,275,964...182,282,854
Ensembl chr 1:182,275,772...182,282,804 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM
ClinVar		 PMID:25741868 PMID:31587869 NCBI chr 1:180,942,286...180,975,106
Ensembl chr 1:180,942,344...180,975,112 		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
IEA
IMP		 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
OMIM:608804
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608804
ClinVar Annotator: match by null		 OMIM
ClinVar
MouseDO
CTD		 PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080, PMID:15192806 RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213 		JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr16:17,406,000...17,430,826
Ensembl chr16:17,405,986...17,430,827 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 20 OMIM
ClinVar		 PMID:32128616 NCBI chr11:100,574,909...100,591,875
Ensembl chr11:100,574,904...100,591,729 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by OMIM:260600		 OMIM
ClinVar		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 NCBI chr 3:132,660,498...132,684,390
Ensembl chr 3:132,660,481...132,684,370 		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 1 (chaperonin) ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18571143 PMID:25741868 PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058 		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 ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532		 OMIM
ClinVar		 PMID:16951682 PMID:17928815 PMID:21911699 PMID:25741868 PMID:28492532 NCBI chr 5:23,915,276...24,030,696
Ensembl chr 5:23,915,276...24,030,690 		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
IEA		 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
OMIM:612438		 ClinVar
MouseDO
OMIM		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:28492532 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362 NCBI chr17:57,080,061...57,087,600
Ensembl chr17:57,080,066...57,087,782 		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 chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694		 OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 PMID:22036171 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27521716 PMID:27535217 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7		 ClinVar PMID:25741868 PMID:27029625 NCBI chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959 		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 Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 PMID:23960188 PMID:24390236 PMID:25186627 PMID:25231023 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26787654 PMID:27153395 PMID:27443514 PMID:27595995 PMID:27878467 PMID:28492532 PMID:28553140 PMID:28828701 PMID:29335925 PMID:30851065 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by OMIM:614381		 OMIM
ClinVar		 PMID:18851904 PMID:22036171 PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013 PMID:28492532 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178 		JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars arginyl-tRNA synthetase ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9
ClinVar Annotator: match by OMIM:616140		 OMIM
ClinVar		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30311386 PMID:30791064 NCBI chr11:35,808,381...35,834,528
Ensembl chr11:35,808,381...35,834,506 		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
IEA		 DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
OMIM:169500		 ClinVar
MouseDO
OMIM		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424 		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 chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424 		JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO
IEA		 ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
OMIM:312080
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 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:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896, PMID:10425042 RGD:1358559 NCBI chr  X:136,820,148...136,838,582
Ensembl chr  X:136,822,671...136,839,733 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
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 chr  X:136,858,147...136,868,556
Ensembl chr  X:136,858,147...136,868,755 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13461
    Developmental Diseases 9471
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8289
        genetic disease 7836
          Nervous System Heredodegenerative Disorders 1980
            Hereditary Central Nervous System Demyelinating Diseases 44
              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 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 2
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 13461
    disease of anatomical entity 12946
      nervous system disease 10511
        central nervous system disease 8882
          brain disease 8224
            Metabolic Brain Diseases 591
              Metabolic Brain Diseases, Inborn 522
                Hereditary Central Nervous System Demyelinating Diseases 44
                  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 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 2
                    hypomyelinating leukodystrophy 9 1
paths to the root