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Overview/Diagnostic criteria
Clinical record form
Information center for intractable disease
Information center for specific pediatric chronic
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Summary
Overview
Modes of inheritance
Genes
Links
Table
Tree
OMIM
Orphanet
Monarch Initiative
MedGen
KEGG
Descriptions
from
MHLW
from
Orphanet
from
Monarch Initiative
from
MedGen
from
KEGG
Synonyms
JA
EN
Number of Specific Medical Expenses Beneficiary Certificate Holders (in Japan)
Bar
Line
Table
Sub-classes
Tree
Table
References
from
PubMed
Genes
Japan-curated
from
MHLW
Internationally curated
from
MedGen
,
Orphadata
,
GenCC
Glycan-related Genes
from
GlyCosmos
Genetic Testings
from
The Japan Society of Human Genetics
Clinical Features
from
HPO
Facial Features
from
GestaltMatcher
Human Genomic Datasets
from
NBDC Human Database
Bioresources
from
Riken BRC
Cell
Mouse
DNA
Compounds
from
PubChem
Variants
from
TogoVar
,
MGeND
ClinVar
MGeND