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(Q55784818)
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English
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
No description defined
PTBHS
PORETTI-BOLTSHAUSER SYNDROME
PORETTI-BOLTSHAUSER SYNDROME; PTBHS
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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_0014419
rare disease
0 references
class of disease
0 references
subclass of
rare genetic developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
syndrome with a cerebellar malformation as major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
oculomotor apraxia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
genetic association
LAMA1
4 references
stated in
UniProt
UniProt protein ID
P25391
retrieved
13 August 2019
stated in
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000101680/MONDO_0014419
based on heuristic
inferred from an Open Targets association score over 0.7
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000101680/Orphanet_370022
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_370022
0 references
Identifiers
ICD-10-CM
G11.1
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
Mondo ID
MONDO_0014419
0 references
OMIM ID
615960
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
Orphanet ID
370022
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
UMLS CUI
C4014821
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014419
UniProt disease ID
DI-04197
0 references
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Multilingual sites
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