Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Agenesis of corpus callosum with lipoma |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypoplasia of corpus callosum |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital malformation of corpus callosum |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypoplasia of corpus callosum |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial agenesis of corpus callosum |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Corpus callosum part |
Is a |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
L1 syndrome |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
L1 syndrome |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pai syndrome |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Abscess of corpus callosum (disorder) |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pai syndrome |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Warburg micro syndrome (disorder) |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Finding site |
False |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
MASA syndrome |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked complicated corpus callosum dysgenesis |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Snowball lesion of corpus callosum (finding) |
Finding site |
True |
Corpus callosum structure (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |