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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:autosomal dominant intellectual developmental disorder 31
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Accession:DOID:0070061 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)
Synonyms:exact_synonym: GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME;   MRD31;   NEDRIHF;   PURA SYNDROME;   PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION;   autosomal dominant mental retardation 31;   autosomal dominant non-syndromic intellectual disability 31;   neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
 primary_id: OMIM:616158

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autosomal dominant intellectual developmental disorder 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:118,577...126,021
Ensembl chrNW_004955418:120,119...125,711 		JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,232,853...2,275,812
Ensembl chrNW_004955418:2,232,842...2,275,875 		JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224 		JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,194,937...2,221,928
Ensembl chrNW_004955418:2,194,689...2,221,928 		JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,114,053...2,138,513 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689 		JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:932,198...965,894
Ensembl chrNW_004955418:929,444...965,894 		JBrowse link
G Cystm1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:415,703...475,796
Ensembl chrNW_004955418:415,703...475,796 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955415:12,156,152...12,272,961
Ensembl chrNW_004955415:12,156,152...12,272,961 		JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,119,699...1,149,891
Ensembl chrNW_004955418:1,124,616...1,149,891 		JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:30,795...33,394
Ensembl chrNW_004955418:30,893...32,936 		JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,108,805...1,116,338
Ensembl chrNW_004955418:1,109,092...1,115,997 		JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007 		JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,943,233...1,974,241 JBrowse link
G Fam13b family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,378,423...2,454,959
Ensembl chrNW_004955418:2,378,423...2,454,959 		JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,152,887...2,162,883
Ensembl chrNW_004955418:2,143,169...2,163,286 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:12,550...19,282
Ensembl chrNW_004955418:12,550...19,282 		JBrowse link
G Hbegf heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387 		JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955408:32,718,736...32,719,409 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017 		JBrowse link
G Igip IgA inducing protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:527,380...536,136 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:39,695...52,862
Ensembl chrNW_004955418:39,695...52,862 		JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,026,254...2,098,223
Ensembl chrNW_004955418:2,026,254...2,098,223 		JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,222,398...2,232,775
Ensembl chrNW_004955418:2,222,398...2,232,775 		JBrowse link
G Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955408:32,596,497...32,719,967
Ensembl chrNW_004955408:32,596,497...32,721,059 		JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,636,906...1,643,430
Ensembl chrNW_004955418:1,636,828...1,643,588 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,213,503...1,269,755
Ensembl chrNW_004955418:1,213,503...1,269,746 		JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955408:32,816,133...32,835,230
Ensembl chrNW_004955408:32,790,095...32,838,258 		JBrowse link
G Mzb1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,170,365...1,172,581
Ensembl chrNW_004955418:1,170,365...1,172,581 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:52,952...55,060
Ensembl chrNW_004955418:52,952...55,060 		JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,282,721...2,301,997
Ensembl chrNW_004955418:2,282,574...2,302,106 		JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:548,624...793,861 JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,189,822...1,208,559
Ensembl chrNW_004955418:1,189,822...1,208,559 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955611:363,566...396,184 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955611:229,711...242,740 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955611:104,824...131,744
Ensembl chrNW_004955611:104,824...131,744 		JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:351,078...414,292 JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,443,557...2,488,860
Ensembl chrNW_004955418:2,439,773...2,488,916 		JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,163,993...1,169,968 JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:793,960...848,550
Ensembl chrNW_004955418:795,825...849,088 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation OMIM
ClinVar		 PMID:9461080 PMID:12818205 PMID:19846792 PMID:23950017 PMID:24033266 More... NCBI chrNW_004955418:538,883...548,605 JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,018,891...2,024,545
Ensembl chrNW_004955418:2,018,891...2,024,456 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,322,644...1,583,352
Ensembl chrNW_004955418:1,392,985...1,583,376 		JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,176,390...1,192,270
Ensembl chrNW_004955418:1,176,000...1,186,940 		JBrowse link
G Slc35a4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:114,916...116,878
Ensembl chrNW_004955418:115,895...116,863 		JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:273,383...288,675
Ensembl chrNW_004955418:269,598...288,145 		JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,157,089...1,163,897
Ensembl chrNW_004955418:1,157,089...1,165,636 		JBrowse link
G Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955408:31,954,622...32,465,463
Ensembl chrNW_004955408:31,957,882...32,465,461 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:126,111...133,498
Ensembl chrNW_004955418:126,726...133,316 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448 		JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955415:12,453,655...12,456,070
Ensembl chrNW_004955415:12,453,655...12,456,070 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:55,110...61,670
Ensembl chrNW_004955418:55,110...61,705 		JBrowse link
G Ube2d2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:990,124...1,043,544
Ensembl chrNW_004955418:989,802...1,006,262 		JBrowse link
G Wdr55 WD repeat domain 55 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:33,237...37,676
Ensembl chrNW_004955418:33,648...37,556 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:2,332,636...2,338,099
Ensembl chrNW_004955418:2,332,636...2,338,085 		JBrowse link
G Zmat2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004955418:4,335...10,844
Ensembl chrNW_004955418:1,633...10,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      Neurodevelopmental Disorders 6202
        intellectual disability 3927
          autosomal dominant intellectual developmental disorder 398
            autosomal dominant intellectual developmental disorder 31 57
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        central nervous system disease 10886
          brain disease 10219
            disease of mental health 7344
              developmental disorder of mental health 4985
                specific developmental disorder 4113
                  intellectual disability 3927
                    autosomal dominant intellectual developmental disorder 398
                      autosomal dominant intellectual developmental disorder 31 57
paths to the root