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Diseases

Congenital Ocular Coloboma (Disorder)

congenital ocular coloboma (disorder)

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
Congenital Ocular Coloboma (Disorder)
Standard Disease Name
congenital ocular coloboma (disorder)
MeSH Tree
No data
ICD-10
Q13.0

Identifiers

DO ID
No data
MeSH ID
D003103
OMIM ID
MTHU012405|MTHU026549|MTHU042339|120200|MTHU026213|606522|606608|MTHU003777|MTHU019860
UMLS ID
C0009363
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:An abnormality in which a part of a structure in one or both eyes is missing.|MSH2017_2016_08_12:Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.|HPO2016_07_04:A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. [HPO:probinson]
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
02
CYP1B1
cytochrome P450 family 1 subfamily B member 1
cytochrome P450 family 1 subfamily B member 1
05
POR
cytochrome p450 oxidoreductase
cytochrome p450 oxidoreductase
06
PTPN11
protein tyrosine phosphatase non-receptor type 11
protein tyrosine phosphatase non-receptor type 11