Disease association ontology term - MONDO:0016073 - syndromic microphthalmia
Term summary
ID
MONDO:0016073
Name
syndromic microphthalmia
Ontology or CV name
Disease association
Definition
A microphthalmia that is part of a larger syndrome.
Parents
is_a
syndromic disease
is_a
hereditary disease
is_a
microphthalmia
Annotation
Disease association
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:0024552
-
linear skin defects with multiple congenital anomalies 1
References:
PB_REF:0000006
Genes:
cyc3 (SPBC26H8.12)
cyt2 (SPAC24C9.02c)
MONDO:0010671
-
microphthalmia, syndromic 1
References:
PB_REF:0000006
Genes:
naa10 (SPAC15E1.08)
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)
