Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Noncystic peripheral retinal tuft (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Retinal detachment and occipital encephalocele |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Folliculitis cruris pustulosa atrophicans (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of macula lutea |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Zonular traction peripheral retinal tuft (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Atrophic fibrosis of lung |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cogan-Reese syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic atrophic hypothyroidism |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Widespread lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lipoatrophy caused by antiretroviral drug |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipodystrophia centrifugalis abdominalis infantalis |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Semicircular lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare localised lipodystrophy characterised by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin colouration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipoatrophy caused by injected corticosteroid (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary vitreoretinal degeneration |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Wolfram syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Insulin lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Localised lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe systemic illness-induced intestinal villous atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Localised idiopathic lipoatrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipoatrophy and lipodystrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitiligo iridis |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of iris of bilateral eyes (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of iris of bilateral eyes (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral vitreoretinal tuft of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral vitreoretinal tuft of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral vitreoretinal tuft of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral vitreoretinal tuft of eyes |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Bilateral phthisis bulbi |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral phthisis bulbi |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Huntington's chorea |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile onset Huntington's disease |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Late onset Huntington's disease (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Akinetic-rigid form of Huntington's disease |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Atrophic nonflaccid left tympanic membrane |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophic nonflaccid right tympanic membrane (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of bilateral forearms (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of bilateral forearms (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of muscle of right foot |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left foot (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of right forearm (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of left forearm (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of bilateral upper arms (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of bilateral upper arms (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of muscle of bilateral thighs (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle of bilateral thighs (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Traumatic iris atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic atrophy of nail in childhood |
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) |
1 |
Autosomal recessive Charcot-Marie-Tooth disease type 2 |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant Charcot-Marie-Tooth disease type 2W |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined oxidative phosphorylation defect type 29 (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined oxidative phosphorylation defect type 27 (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Charcot-Marie-Tooth disease type 2S |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive isolated optic atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive isolated optic atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscle atrophy of right ankle |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle acting on left ankle joint (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle acting on bilateral ankle joints (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of muscle acting on bilateral ankle joints (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral muscle atrophy of shoulders |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral muscle atrophy of shoulders |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral muscle atrophy of feet |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral muscle atrophy of feet |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Progressive cerebello-cerebral atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Progressive cerebello-cerebral atrophy (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atrophy of multiple endocrine glands (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of adrenal cortex (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of globe of eye |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ophthalmophthisis |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital peripapillary staphyloma |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital peripapillary staphyloma |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Right globe atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Left globe atrophy |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Placenta fenestrata |
Associated morphology |
True |
Atrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |