Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive spastic paraplegia type 63 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 61 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spastic paraplegia with Paget disease of bone syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 18 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 25 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 10 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 6 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spastic paraplegia with precocious puberty syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal dominant spastic paraplegia type 29 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Spastic paraplegia, nephritis, deafness syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Autosomal recessive spastic paraplegia type 11 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spastic paraplegia type 7 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Severe intellectual disability and progressive spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal recessive spastic paraplegia type 27 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 3 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 69 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 71 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal spastic paraplegia type 72 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 60 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 66 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 14 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Autosomal dominant spastic paraplegia type 38 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked spastic paraplegia type 16 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 13 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 56 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive spastic paraplegia type 24 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked complex hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked pure hereditary spastic paraplegia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Autosomal recessive spastic paraplegia type 78 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Autosomal dominant spastic paraplegia type 9A |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 9B |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 9B |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant spastic paraplegia type 73 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 75 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 77 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Childhood-onset nemaline myopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Intermediate nemaline myopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
6 |
Proximal myopathy with focal depletion of mitochondria |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Amyotrophic lateral sclerosis type 1 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Juvenile amyotrophic lateral sclerosis type 2 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Juvenile amyotrophic lateral sclerosis (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis type 3 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Juvenile amyotrophic lateral sclerosis type 5 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Amyotrophic lateral sclerosis type 6 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis type 7 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis type 8 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis type 9 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Amyotrophic lateral sclerosis type 10 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Familial infantile bilateral striatal necrosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Progressive cerebello-cerebral atrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Spinocerebellar ataxia type 42 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 41 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 43 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Multiple mitochondrial dysfunctions syndrome type 4 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Toxic maculopathy of bilateral eyes caused by antimalarial drug |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Odontoleukodystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Progressive myoclonic epilepsy type 7 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Progressive congenital rubella encephalomyelitis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperostosis cranialis interna (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Progressive scapulohumeroperoneal distal myopathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Severe myopia, generalized joint laxity, short stature syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal dominant mitochondrial myopathy with exercise intolerance |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Polyglucosan body myopathy type 2 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive myoclonic epilepsy type 9 |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Stanescu type |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
PCNA-related progressive neurodegenerative photosensitivity syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Leukocyte chemotactic factor-2 amyloidosis (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Corticobasal syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Megaconial congenital muscular dystrophy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Distal hereditary motor neuropathy type 2 (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
1 |
Goldmann-Favre syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Smoldering systemic mastocytosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Limb girdle muscular dystrophy due to POMK deficiency |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Progressive macular hypomelanosis |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
3 |
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
5 |
Osteosclerotic metaphyseal dysplasia |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
4 |
Sorsby pseudoinflammatory fundus dystrophy (disorder) |
Clinical course |
True |
Progressive (qualifier value) |
Inferred relationship |
Some |
2 |