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(Q18966114)
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English
Van Maldergem syndrome
Human disease
cerebro-facio-articular syndrome
In more languages
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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_0014242
rare disease
0 references
class of disease
0 references
subclass of
syndrome
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060238
Pashayan syndrome
0 references
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060238
genetic association
FAT4
3 references
stated in
UniProt
UniProt protein ID
Q6V0I7
retrieved
13 August 2019
stated in
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000196159/Orphanet_314679
based on heuristic
inferred from an Open Targets association score over 0.7
DCHS1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000166341/Orphanet_314679
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060238
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060238
http://identifiers.org/doid/DOID:0060238
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_314679
0 references
Identifiers
MeSH descriptor ID
C536530
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060238
KEGG ID
H01393
0 references
Disease Ontology ID
DOID:0060238
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060238
GARD rare disease ID
5456
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060238
Mondo ID
MONDO_0017813
0 references
OMIM ID
601390
2 references
stated in
Disease Ontology
retrieved
7 August 2019
Disease Ontology ID
DOID:0060238
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060238
Orphanet ID
314679
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060238
UMLS CUI
C1832390
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060238
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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