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Diseases

Microphthalmia With Limb Anomalies

microphthalmia with limb anomalies

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Microphthalmia With Limb Anomalies
Standard Disease Name
microphthalmia with limb anomalies
MeSH Tree
No data
ICD-10
Q87.2

Identifiers

DO ID
No data
MeSH ID
C537769
OMIM ID
206920
UMLS ID
C0599973
HPO ID
No data

Description and Extensions

Description
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
cholinergic receptor nicotinic alpha 4 subunit
07
STAT1
signal transducer and activator of transcription 1
signal transducer and activator of transcription 1
08
STAT2
signal transducer and activator of transcription 2
signal transducer and activator of transcription 2