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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:scoliosis
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Accession:DOID:0060249 term browser browse the term
Definition:A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)
Synonyms:exact_synonym: Scolioses
 narrow_synonym: CONGENITAL SCOLIOSIS
 primary_id: MESH:D012600
 xref: ICD10CM:M41.9;   NCI:C78603
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:31680349 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Scoliosis
ClinVar Annotator: match by term: Congenital scoliosis
DNA:missense mutations:exon:multiple
ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30311386 PMID:30675029 PMID:30739908, PMID:24833718 RGD:12910484 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISS MouseDO NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 2:27,000,303...27,030,646
Ensembl chr 2:27,000,327...27,030,754
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24091937 PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:21291453 PMID:25741868 PMID:26392352 PMID:26794302 PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tph1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple
RGD PMID:18794762, PMID:21308753, PMID:21192222 RGD:5686347, RGD:5686349, RGD:5686348 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32860008 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
ClinVar
OMIM
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
idiopathic scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23666238 NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:29240829 NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 susceptibility ISO ClinVar Annotator: match by term: Scoliosis, idiopathic 3 ClinVar
OMIM
PMID:17436250 PMID:23883829 PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr10:47,768,592...47,775,130
Ensembl chr10:47,766,680...47,775,055
Ensembl chr10:47,766,680...47,775,055
JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
G Hoxc10 homeo box C10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 7:144,577,578...144,582,802
Ensembl chr 7:144,577,465...144,582,622
JBrowse link
G Hoxd10 homeo box D10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
JBrowse link
G Hoxd11 homeobox D11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:61,604,256...61,606,874
Ensembl chr 3:61,604,672...61,606,400
JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis
ClinVar Annotator: match by OMIM:613075
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:28492532 PMID:30769224 NCBI chr 3:139,871,330...140,087,679
Ensembl chr 3:139,894,331...140,087,678
JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar
PMID:4056805 PMID:8179305 PMID:14755468 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26467025 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
Progressive Congenital Myopathy with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis
ClinVar
OMIM
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:158,211,001...158,313,510
Ensembl chr 5:158,214,616...158,313,426
JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:27854218 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21674524 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26633545 PMID:28492532 PMID:30611313 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar Annotator: match by OMIM:602771
ClinVar
OMIM
PMID:1219264 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17365175 PMID:17576681 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19285539 PMID:19557870 PMID:19763152 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25635128 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28492532 PMID:28558865 PMID:28688748 PMID:30921636 PMID:32860008, PMID:11528383 RGD:1599352 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome ClinVar
OMIM
PMID:9326317 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16283885 PMID:17041877 PMID:19344451 PMID:23439489 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30288735 PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM
ClinVar
PMID:29878199 PMID:30082715 NCBI chr19:32,857,984...33,081,359
Ensembl chr19:32,855,343...33,080,998
JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:272460
OMIM
ClinVar
CTD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:29566257, PMID:17635842 RGD:12791028 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:25741868 PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:81,057,507...81,453,682
Ensembl chr18:81,057,519...81,428,971
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        bone disease 2997
          spinal disease 875
            Spinal Curvatures 56
              scoliosis 43
                Acrodysplasia Scoliosis 0
                Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                Coffin Syndrome 1 0
                Daish Hardman Lamont Syndrome 0
                Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                Iida Kannari Syndrome 0
                Kyphoscoliosis + 5
                Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                Omphalocele Exstrophy Imperforate Anus 0
                Pilotto Syndrome 0
                Prata Libéral Gonçalves Syndrome 0
                Progressive Congenital Myopathy with Scoliosis 1
                Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
                SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                Scoliosis, Arachnodactyly, and Blindness 0
                Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                Shprintzen Omphalocele Syndrome 0
                Tsukahara Syndrome 1
                Waaler Aarskog Syndrome 0
                idiopathic scoliosis 5
                parastremmatic dwarfism 1
                rigid spine muscular dystrophy 1 4
                spondylocarpotarsal synostosis syndrome 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            spinal disease 875
              bone structure disease 85
                Spinal Curvatures 56
                  scoliosis 43
                    Acrodysplasia Scoliosis 0
                    Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                    Coffin Syndrome 1 0
                    Daish Hardman Lamont Syndrome 0
                    Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                    Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                    Iida Kannari Syndrome 0
                    Kyphoscoliosis + 5
                    Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                    Omphalocele Exstrophy Imperforate Anus 0
                    Pilotto Syndrome 0
                    Prata Libéral Gonçalves Syndrome 0
                    Progressive Congenital Myopathy with Scoliosis 1
                    Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
                    SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                    Scoliosis, Arachnodactyly, and Blindness 0
                    Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                    Shprintzen Omphalocele Syndrome 0
                    Tsukahara Syndrome 1
                    Waaler Aarskog Syndrome 0
                    idiopathic scoliosis 5
                    parastremmatic dwarfism 1
                    rigid spine muscular dystrophy 1 4
                    spondylocarpotarsal synostosis syndrome 2
paths to the root