Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Tendinosis of bilateral shoulders (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tendinosis of bilateral shoulders (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acquired hypoganglionosis of large intestine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acquired hypoganglionosis of large intestine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant hereditary spastic paraplegia |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subconjunctival degeneration |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Degeneration of posterior pole of eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Miner's knee |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tendinosis of right knee |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tendinosis of left knee (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degeneration of spine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipodermatosclerosis of lower limb due to varicose veins of lower limb (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic paraplegia, facial cutaneous lesion syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Actinic cheilitis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral osteoarthritis of midtarsal joints of feet |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive spastic paraplegia type 43 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 5A |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 21 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral osteoarthritis of midtarsal joints of feet |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 19 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked spastic paraplegia type 34 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary essential cutis verticis gyrata |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 15 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 48 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 42 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant spastic paraplegia type 12 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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). |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 28 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative rupture of lateral meniscus of bilateral knees (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Degenerative rupture of lateral meniscus of bilateral knees (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 45 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 67 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mixed dementia (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired hypoganglionosis of large intestine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired hypoganglionosis of large intestine |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary hollow viscus myopathy |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant spastic paraplegia type 17 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Band keratopathy of right eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Band keratopathy of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Band keratopathy of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Band keratopathy of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Degenerative progressive high myopia of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative progressive high myopia of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Degenerative progressive high myopia of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral nodular degeneration of corneas |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral nodular degeneration of corneas |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nodular degeneration of left cornea |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myopic macular degeneration of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myopic macular degeneration of right eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Degenerative progressive high myopia of right eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nodular degeneration of right cornea |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 58 |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive spastic paraplegia type 70 (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pinguecula of bilateral eyes (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pinguecula of left eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitreous degeneration of right eye |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitreous degeneration of left eye (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral vitreous degeneration of eyes |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral vitreous degeneration of eyes |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice degeneration of right retina (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice degeneration of right retina (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lattice degeneration of left retina (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lattice degeneration of left retina (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lattice degeneration of bilateral retinas (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lattice degeneration of bilateral retinas (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Schisis of right retina |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Schisis of left retina |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Retinoschisis and retinal cysts |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Schisis of bilateral retinas (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Flat retinoschisis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Aicardi's syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital degeneration of nervous system |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Schisis of bilateral retinas (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia dysmorphism syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spinocerebellar ataxia dysmorphism syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital chorioretinal degeneration (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Van den Bosch syndrome (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Stickler syndrome |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral wrist osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral wrist osteoarthritis |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoarthritis of bilateral shoulders (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoarthritis of bilateral shoulders (disorder) |
Associated morphology |
False |
dégénérescence |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |