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(Q18966097)
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3MC syndrome
Human disease
craniofacial-ulnar-renal syndrome
oculopalatoskeletal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
syndrome
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0060225
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0060225
health specialty
medical genetics
0 references
symptoms and signs
ptosis
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060225
genetic association
COLEC11
1 reference
stated in
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060225
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0060225
http://identifiers.org/doid/DOID:0060225
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_293843
0 references
Identifiers
KEGG ID
H01887
0 references
Disease Ontology ID
DOID:0060225
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0060225
GARD rare disease ID
1118
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017398
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060225
ICD-10-CM
Q87.8
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060225
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017398
Mondo ID
MONDO_0017398
0 references
Orphanet ID
293843
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060225
293843
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017398
UMLS CUI
C0796279
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0017398
C4303860
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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