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(Q55345705)
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English
deafness-enamel hypoplasia-nail defects syndrome
medical condition
HMLR1
Heimler syndrome
Heimler Syndrome type 1
HEIMLER SYNDROME 1
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No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
Zellweger spectrum disorder
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009325
genetic association
PEX6
1 reference
stated in
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
PEX1
1 reference
stated in
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
exact match
http://www.orpha.net/ORDO/Orphanet_3220
0 references
Identifiers
MeSH descriptor ID
C535994
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009325
GARD rare disease ID
1687
0 references
Google Knowledge Graph ID
/g/11hdf880wc
0 references
Mondo ID
MONDO_0009325
0 references
Orphanet ID
3220
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009325
WikiProjectMed ID
Heimler syndrome
0 references
Sitelinks
Wikipedia
(2 entries)
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enwiki
Heimler syndrome
trwiki
Heimler sendromu
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