Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic paraplegia type 66 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive nail dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spondylometaphyseal dysplasia Megarbane type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Gemignani syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
2-aminoadipic 2-oxoadipic aciduria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Fatal infantile hypertonic myofibrillar myopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Occipital pachygyria and polymicrogyria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Lipoic acid synthetase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Spondylometaphyseal dysplasia A4 type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Infantile cerebellar and retinal degeneration |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Lethal arteriopathy syndrome due to fibulin-4 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Congenital pontocerebellar hypoplasia type 10 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Distal myopathy with anterior tibial onset |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Karyomegalic interstitial nephritis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Lipoyl transferase 1 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Recessive mitochondrial ataxia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Thoracic dysplasia and hydrocephalus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Richieri Costa-da Silva syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Parkinsonian pyramidal syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Progressive myoclonic epilepsy type 8 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic paraplegia type 14 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Progressive myoclonic epilepsy type 3 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Progressive myoclonic epilepsy type 6 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Recurrent Neisseria infection due to factor D deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Parana hard skin syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Leigh syndrome with nephrotic syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Subaortic stenosis and short stature syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive optic atrophy type 7 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Distal anoctaminopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Holzgreve syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Thoracomelic dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Combined oxidative phosphorylation deficiency type 20 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Junctional epidermolysis bullosa |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Megalocornea, spherophakia, secondary glaucoma syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Oculocutaneous albinism |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Polycystic kidney disease, infantile type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Reunion Island Larsen-like syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Obesity due to centrosomal protein 19 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Erythropoietic uroporphyria associated with myeloid malignancy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Combined oxidative phosphorylation defect type 11 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Phosphoglucomutase 1-related congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Obesity due to SIM bHLH transcription factor 1 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Immunodeficiency with factor I anomaly |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive brachyolmia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic paraplegia type 56 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Navajo neurohepatopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Deficiency of interleukin 36 receptor antagonist |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic ataxia with leukoencephalopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Familial infantile myoclonic epilepsy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Combined immunodeficiency due to interleukin 21 receptor deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Beta-mercaptolactate cysteine disulfiduria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Familial mesial temporal lobe epilepsy with febrile seizures |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Adult-onset autosomal recessive cerebellar ataxia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Multiple congenital anomalies, hypotonia, seizures syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Cobblestone lissencephaly without muscular or ocular involvement |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Infantile-onset autosomal recessive non progressive cerebellar ataxia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive spastic paraplegia type 24 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Obesity due to leptin receptor gene deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Arthrogryposis and ectodermal dysplasia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Congenital muscular dystrophy type 1A |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Short chain acyl-coenzyme A dehydrogenase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Amyotonia congenita |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Pendred's syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Leprechaunism syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Galactosylceramide beta-galactosidase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
Oguchi's disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|