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syndromic genetic deafness
human disease
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No label defined
No description defined
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Statements
instance of
head and neck disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
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_0019589
rare deafness
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
genetic deafness
0 references
genetic association
GJB2
2 references
stated in
ClinGen
retrieved
8 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/9d7b8505-4def-4b99-a8a2-853c07e9969e--2018-06-26T16:00:00
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d7b8505-4def-4b99-a8a2-853c07e9969e-2018-06-26T160000.000Z
exact match
http://www.orpha.net/ORDO/Orphanet_90642
0 references
Identifiers
ICD-10-CM
H90.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
ICD-11 ID (Foundation)
186534168
0 references
ICD-11 ID (MMS)
LD2H
subject named as
Syndromic genetic deafness
0 references
KBpedia ID
SyndromicGeneticDeafness
1 reference
stated in
KBpedia
retrieved
9 July 2020
Mondo ID
MONDO_0019589
0 references
Orphanet ID
90642
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019589
UMLS CUI
C0395976
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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