Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chorioretinal atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gyrate atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pigmented paravenous retinochoroidal atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pigmented paravenous retinochoroidal atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Helicoid peripapillary chorioretinal degeneration (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Helicoid peripapillary chorioretinal degeneration (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Charcot-Marie-Tooth disease type 2B1 (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Neuralgic amyotrophy of left brachial plexus (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neuralgic amyotrophy of left brachial plexus (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neuralgic amyotrophy of right brachial plexus (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neuralgic amyotrophy of right brachial plexus (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital onychoatrophy (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of ear (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare form of axonal peripheral sensorimotor neuropathy characterised by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of left kidney |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of right kidney |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Senile involution of ovary (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Senile involution of ovary (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired atrophy of uterus |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Senile involution of ovary |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired atrophy of the ovary and fallopian tube (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired atrophy of the ovary and fallopian tube (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired atrophy of fallopian tube (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired cerebral atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Charcot-Marie-Tooth disease type 2B5 (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lattice degeneration of right retina (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lattice degeneration of left retina (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lattice degeneration of bilateral retinas (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice degeneration of bilateral retinas (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic atrophy of left eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic atrophy of right eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral optic atrophy of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral optic atrophy of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe X-linked intellectual disability Gustavson type (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intellectual disability, developmental delay, contracture syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Choroidal atrophy and alopecia syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Syphilitic optic atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 2R (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral atrophy of muscle of lower legs |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral atrophy of muscle of lower legs |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left lower leg (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right hand (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left thigh |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left shoulder (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right lower leg (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left upper arm |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right thigh (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right shoulder (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left hand |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right upper arm |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive cerebral atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital onychoatrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2O |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Post-atrophic hyperplasia |
Is a |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paving stone retinal degeneration of right eye (disorder) |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral paving stone retinal degeneration |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Paving stone retinal degeneration of left eye |
Associated morphology |
False |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Follicular atrophoderma and basal cell epitheliomata |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of iris of right eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of iris of left eye (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial optic atrophy of right eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial optic atrophy of bilateral eyes (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial optic atrophy of bilateral eyes (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Partial optic atrophy of left eye (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ataxia with tapetoretinal degeneration syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lethal congenital contracture syndrome type 2 |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitreoretinal tuft of right eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 2P (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitreoretinal tuft of left eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitreoretinal tuft of right eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Vitreoretinal tuft of left eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Retina - peripheral cystic tufts (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Peripheral retina - white without pressure |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Peripheral retina - white with pressure |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Vitreoretinal degeneration |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Zonular traction peripheral retinal tuft (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Vitreoretinal tuft (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Noncystic peripheral retinal tuft (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |