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(Q28065640)
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English
isolated microphthalmia 4
microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22
MCOP4
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
microphthalmia
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060836
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060836
monogenic disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060836
isolated microphthalmia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060836
health specialty
medical genetics
0 references
genetic association
GDF6
1 reference
stated in
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060836
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060836
http://identifiers.org/doid/DOID:0060836
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0060836
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060836
ICD-10-CM
Q11.0
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060836
Mondo ID
MONDO_0013130
0 references
OMIM ID
613094
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060836
Orphanet ID
2542
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060836
UniProt disease ID
DI-02535
0 references
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