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(Q32136454)
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English
autosomal recessive pseudohypoaldosteronism type 1
human disease
autosomal recessive PHA 1
PHA1B
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Statements
instance of
class of disease
0 references
subclass of
pseudohypoaldosteronism
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060854
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060854
health specialty
urology
0 references
genetic association
SCNN1A
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000111319/Orphanet_171876
based on heuristic
inferred from an Open Targets association score over 0.7
SCNN1B
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000168447/Orphanet_171876
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C123251
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
exact match
http://purl.obolibrary.org/obo/DOID_0060854
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060854
http://identifiers.org/doid/DOID:0060854
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
PatientsLikeMe condition ID
pseudohypoaldosteronism-type-1-autosomal-recessive
0 references
Disease Ontology ID
DOID:0060854
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060854
GARD rare disease ID
4552
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
OMIM ID
264350
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
Orphanet ID
171876
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
756
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
UMLS CUI
C0268436
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060854
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Multilingual sites
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