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(Q55784994)
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English
cardiac anomalies-developmental delay-facial dysmorphism syndrome
human disease
MRFACD
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
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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_0014773
rare disease
0 references
class of disease
0 references
subclass of
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
genetic cardiac anomaly
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
rare syndrome with cardiac malformations
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
genetic association
MED13L
4 references
stated in
UniProt
UniProt protein ID
Q71F56
retrieved
13 August 2019
stated in
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000123066/MONDO_0014773
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/ENSG00000123066/Orphanet_369891
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_369891
0 references
Identifiers
ICD-10-CM
Q87.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
Mondo ID
MONDO_0014773
0 references
OMIM ID
616789
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
Orphanet ID
369891
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
UMLS CUI
C4225208
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014773
C5192431
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-04642
0 references
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