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(Q55784819)
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English
acid-labile subunit deficiency
hereditary disease of the endocrine system
ACLSD
short stature due to primary acid-labile subunit deficiency
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
growth hormone insensitivity syndrome
0 references
genetic association
IGFALS
3 references
stated in
UniProt
retrieved
13 August 2019
UniProt protein ID
P35858
stated in
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000099769/MONDO_0014420
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_140941
0 references
Identifiers
KEGG ID
H01907
0 references
ICD-10-CM
E34.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014420
Mondo ID
MONDO_0014420
0 references
OMIM ID
615961
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014420
Orphanet ID
140941
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014420
UMLS CUI
C3900122
mapping relation type
exact match
0 references
C4303612
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-04198
0 references
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Multilingual sites
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