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(Q5652132)
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English
Hapnes Boman Skeie syndrome
human disease
Hapnes-Boman-Skeie syndrome
TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF
Extensor tendons of finger anomalies
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No label defined
No description defined
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
class of disease
0 references
subclass of
hand disease
0 references
syndrome with limb malformations as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
rare genetic developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
exact match
http://www.orpha.net/ORDO/Orphanet_3294
0 references
Identifiers
MeSH descriptor ID
C536960
0 references
GARD rare disease ID
2597
0 references
ICD-10 ID
Q74.0
1 reference
imported from Wikimedia project
English Wikipedia
ICD-9 ID
no value
1 reference
imported from Wikimedia project
English Wikipedia
Mondo ID
MONDO_0008540
0 references
OMIM ID
187390
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
Orphanet ID
3294
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
UMLS CUI
C1861237
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
C2931376
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008540
Sitelinks
Wikipedia
(1 entry)
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enwiki
Hapnes Boman Skeie syndrome
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Wiktionary
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