Disease association ontology term - MONDO:0021129 - microphthalmia
Term summary
ID
MONDO:0021129
Name
microphthalmia
Ontology or CV name
Disease association
Definition
Congenital or developmental anomaly in which the eyeballs are abnormally small.
Parents
is_a
ocular growth disorder
Annotation
Disease association
MONDO:0021129
-
microphthalmia
References:
PB_REF:0000003
Genes:
cmb1 (SPAC4G9.11c)
cyc3 (SPBC26H8.12)
MONDO:0008955
-
cerebrooculofacioskeletal syndrome 1
References:
PB_REF:0000006
Genes:
rhp26 (SPCP25A2.02c)
MONDO:0012553
-
cerebrooculofacioskeletal syndrome 2
References:
PB_REF:0000006
Genes:
rad15 (SPAC1D4.12)
MONDO:0014696
-
cerebrooculofacioskeletal syndrome 3
References:
PB_REF:0000006
Genes:
rad13 (SPBC3E7.08c)
MONDO:0012554
-
cerebrooculofacioskeletal syndrome 4
References:
PB_REF:0000006
Genes:
swi10 (SPBC4F6.15c)
MONDO:0014050
-
isolated microphthalmia 8
References:
PB_REF:0000006
Genes:
atd1 (SPAC9E9.09c)
atd2 (SPAC922.07c)
MONDO:0024552
-
linear skin defects with multiple congenital anomalies 1
References:
PB_REF:0000006
Genes:
cyc3 (SPBC26H8.12)
cyt2 (SPAC24C9.02c)
MONDO:0013783
-
microphthalmia, isolated, with coloboma 7
References:
PB_REF:0000006
Genes:
hmt1 (SPCC737.09c)
MONDO:0010671
-
microphthalmia, syndromic 1
References:
PB_REF:0000006
Genes:
naa10 (SPAC15E1.08)
MONDO:0975809
-
microphthalmia/coloboma 13
References:
PB_REF:0000006
Genes:
xlf1 (SPCC24B10.14c)
MONDO:0014296
-
Warburg micro syndrome 4
References:
PB_REF:0000006
Genes:
gyp10 (SPBC651.03c)
MONDO:0010485
-
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
References:
PB_REF:0000006
Genes:
nhp6 (SPAC57A10.09c)
MONDO:0010216
-
xeroderma pigmentosum group G
References:
PB_REF:0000006
Genes:
rad13 (SPBC3E7.08c)