Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Benign scapuloperoneal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe scapuloperoneal muscular dystrophy with cardiomyopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Robinow syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Benign congenital muscular dystrophy with finger flexion contractures |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Distal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hip dysplasia Beukes type (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital muscular dystrophy without intellectual disability (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital muscular dystrophy with cerebellar involvement |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2F |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Transient infantile osteopetrosis (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
dystrophie musculaire des ceintures autosomique dominante type 1B |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Leri-Weill dyschondrosteosis |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-Alzheimer's progressive dysphasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive aphasia in Alzheimer's disease (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Semantic dementia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Myopic macular degeneration of bilateral eyes (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Myopic macular degeneration of right eye (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myopic macular degeneration of left eye (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive aphasia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Essential iris atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive cone dystrophy (without rod involvement) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple progressive haemangiomata |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Secondary pigmentary retinal degeneration |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative progressive high myopia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myopic macular degeneration |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative progressive high myopia of right eye |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative progressive high myopia of left eye (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Degenerative progressive high myopia of bilateral eyes (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Post poliomyelitis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progression of fetal right ventricular outflow tract obstruction |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progression of fetal left ventricular outflow tract obstruction (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
North American Indian childhood cirrhosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive external ophthalmoplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive spastic paraplegia type 55 (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 57 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia, characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Logopenic progressive aphasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Alexander's disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
SPOAN and SPOAN-related disorder |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive cone-rod dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive muscular atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive multiple sclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary progressive multiple sclerosis (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Primary progressive multiple sclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive relapsing multiple sclerosis (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive focal cortical atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benign monomelic amyotrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive progressive external ophthalmoplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked progressive cerebellar ataxia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary cerebral amyloid angiopathy, Dutch type |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary cerebral hemorrhage with amyloidosis (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary cerebral amyloid angiopathy, Icelandic type |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive pigmentary dermatosis of Schamberg |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Keratosis lichenoides chronica (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Van Bogaert's sclerosing leukoencephalitis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Granulomatosis disciformis et progressiva |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chronic progressive coccidioidal pneumonia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rett syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cirrhosis of liver due to and following cardiac procedure |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Boucher Neuhäuser syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive external ophthalmoplegia of bilateral eyes (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Progressive cribriform and zosteriform hyperpigmentation |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive peripheral pterygium of right eye |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive peripheral pterygium of left eye (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive peripheral pterygium of bilateral eyes (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Peripheral pterygium, progressive (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Necrobiotic xanthogranuloma (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Necrobiotic xanthogranuloma with paraproteinemia (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant Robinow syndrome (disorder) |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive Robinow syndrome |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral Madelung deformity |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Congenital muscular dystrophy type 1D large gene mutation (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive avascular necrosis of bilateral lunate bones (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Liver cirrhosis due to classical cystic fibrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mesomelic dysplasia of upper limb (disorder) |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive nodular fibrosis of skin |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Porokeratosis of Mibelli |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Giant porokeratosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
épilepsie progressive partielle chronique continue de l'enfance |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
épilepsie partielle continue progressive chronique |
Clinical course |
False |
Progressive |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |