| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Autosomal recessive spastic paraplegia type 63 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 61 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia with Paget disease of bone syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 18 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 25 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 10 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 6 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia with precocious puberty syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant spastic paraplegia type 29 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Spastic paraplegia, nephritis, deafness syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Autosomal recessive spastic paraplegia type 11 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia type 7 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrocephaly with spastic paraplegia and dysmorphism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Spastic paraplegia, glaucoma, intellectual disability syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe intellectual disability and progressive spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal recessive spastic paraplegia type 27 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 69 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 71 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal spastic paraplegia type 72 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 60 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 66 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 14 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal dominant spastic paraplegia type 38 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked spastic paraplegia type 16 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 13 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 56 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive spastic paraplegia type 24 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked complex hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked pure hereditary spastic paraplegia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal recessive spastic paraplegia type 78 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant spastic paraplegia type 9A |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant spastic paraplegia type 9B |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 9B |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant spastic paraplegia type 73 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 75 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive spastic paraplegia type 77 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Childhood-onset nemaline myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Intermediate nemaline myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal dominant amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
6 |
| Proximal myopathy with focal depletion of mitochondria |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Juvenile amyotrophic lateral sclerosis type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Juvenile amyotrophic lateral sclerosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Amyotrophic lateral sclerosis type 3 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Juvenile amyotrophic lateral sclerosis type 5 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Amyotrophic lateral sclerosis type 6 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Amyotrophic lateral sclerosis type 7 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Amyotrophic lateral sclerosis type 8 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Amyotrophic lateral sclerosis type 9 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe oculo-renal-cerebellar syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Amyotrophic lateral sclerosis type 10 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Familial infantile bilateral striatal necrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive cerebello-cerebral atrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Spinocerebellar ataxia type 42 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spinocerebellar ataxia type 41 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Spinocerebellar ataxia type 43 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Multiple mitochondrial dysfunctions syndrome type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Toxic maculopathy of bilateral eyes caused by antimalarial drug |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Odontoleukodystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive myoclonic epilepsy type 7 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Progressive congenital rubella encephalomyelitis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Hyperostosis cranialis interna |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Progressive scapulohumeroperoneal distal myopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Cerebellar ataxia with oculomotor apraxia type 4 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe myopia, generalized joint laxity, short stature syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal dominant mitochondrial myopathy with exercise intolerance |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Early-onset calcifying leukoencephalopathy, skeletal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Polyglucosan body myopathy type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive myoclonic epilepsy type 9 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloepiphyseal dysplasia Stanescu type |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Leukocyte chemotactic factor-2 amyloidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Corticobasal syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Megaconial congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Distal hereditary motor neuropathy type 2 |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
1 |
| Goldmann-Favre syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Smoldering systemic mastocytosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Progressive macular hypomelanosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Night blindness, skeletal anomalies, dysmorphism syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
5 |
| Osteosclerotic metaphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
4 |
| Sorsby pseudoinflammatory fundus dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Existential restriction modifier |
2 |