Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dysgenesis of the cerebellum |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital absence of part of brain |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hypoplasia of part of brain |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital choroid plexus cyst |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Anomalies of cerebrum |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chiari malformation |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Agyria |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kundrat's syndrome |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alobar holoprosencephaly |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dysgenesis of the brainstem |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microgyria |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Laminar heterotopia |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nodular heterotopia |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cystic malformation of posterior fossa (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ulegyria |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital anomaly of cerebrum (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Vein of Galen malformation (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cervical spinal meningocele (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cervical myelocele (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spina bifida aperta of cervical spine (disorder) |
Is a |
False |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Duane's syndrome |
Is a |
True |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. |
Is a |
True |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cervical myelocystocele |
Is a |
True |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital deficiency of cochlear nerve |
Is a |
True |
Congenital anomaly of nervous system of head/neck |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|