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: Kohlschutter-Tonz syndrome
Accession: DOID:0111668
browse the term
Definition: A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)
Synonyms: exact_synonym: KTZS; Kohlschutter syndrome; Kohlschutter's syndrome; amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy, dementia, and amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome
primary_id: MESH:C537213
alt_id: OMIM:226750
xref: GARD:3128 ; ORDO:1946
For additional species annotation, visit the
Alliance of Genome Resources .
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Adcy9
adenylate cyclase 9
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Cdip1
cell death-inducing p53 target 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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Coro7
coronin 7
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dnaaf8
dynein axonemal assembly factor 8
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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Dnaja3
DnaJ heat shock protein family (Hsp40) member A3
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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Glis2
GLIS family zinc finger 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Hmox2
heme oxygenase 2
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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LOC100361104
CG10869-like
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,707,529...10,750,893
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Mgrn1
mahogunin ring finger 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Nmral1
NmrA like redox sensor 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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Nudt16l1
nudix hydrolase 16 like 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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Pam16
presequence translocase associated motor 16
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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Rogdi
rogdi atypical leucine zipper
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
OMIM ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 PMID:16411202 PMID:17576681 PMID:22424600 PMID:22482807 PMID:23086778 PMID:24630287 PMID:25565929 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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Septin12
septin 12
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
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Smim22
small integral membrane protein 22
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,572,146...10,574,339
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Srl
sarcalumenin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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Tfap4
transcription factor AP-4
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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Ubald1
UBA-like domain containing 1
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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Vasn
vasorin
ISO
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome
ClinVar
PMID:28492532
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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