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(Q55788803)
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English
short rib dysplasia
human disease
SRP
Short-rib dysplasia (with or without polydactyly)
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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_0019691
rare disease
0 references
class of disease
0 references
subclass of
primary bone dysplasia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
genetic association
DYNLT2B
1 reference
stated in
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
ICD-9-CM
756.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
exact match
http://www.orpha.net/ORDO/Orphanet_93426
0 references
Identifiers
KEGG ID
H02157
0 references
ICD-10-CM
Q77.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
ICD-11 ID (Foundation)
399834960
0 references
ICD-11 ID (MMS)
LD24.B
subject named as
Short rib syndromes
0 references
Mondo ID
MONDO_0019691
0 references
OMIM ID
617405
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
Orphanet ID
93426
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
UMLS CUI
C0432195
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019691
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