| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Porphobilinogen synthase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ethanolaminosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Werdnig-Hoffmann disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Fucosidosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sarcosine dehydrogenase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sitosterolemia with xanthomatosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mannosidosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cytochrome-c oxidase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aminomethyltransferase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Histidine ammonia-lyase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Maroteaux-Lamy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Proline dipeptidase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| I-cell disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary adrenal unresponsiveness to corticotropin |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hydroxymethylglutaryl-CoA lyase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Isolated xanthine oxidase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mucopolysaccharidosis type I |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial renal iminoglycinuria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Classical phenylketonuria |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dihydropyrimidine dehydrogenase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sucrase-isomaltase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Gamma-glutamyl transpeptidase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive ocular albinism |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pancreatic triacylglycerol lipase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hypokalemic alkalosis, Gullner type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Wolman's disease |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Trehalase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pyruvate carboxylase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Isovaleryl-coenzyme A dehydrogenase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Biotinidase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sanfilippo syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Zellweger syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Wilson's disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Crigler-Najjar syndrome, type I |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Muscle adenosine monophosphate deaminase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pseudohypoaldosteronism, type 1, recessive form |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cystinosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive severe combined immunodeficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pseudocholinesterase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive hypophosphatemic bone disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Transcobalamin II deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial chronic mucocutaneous candidiasis - recessive type |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Geroderma osteodysplastica |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Propionyl-CoA carboxylase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Childhood hypophosphatasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alpha-1-antitrypsin deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hepatic fructokinase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glucocorticoid deficiency with achalasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Infantile hypophosphatasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bovine hereditary syndactyly |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Jervell and Lange-Nielsen syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloenchondromatosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Giacci familial neurogenic acroosteolysis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Jervell and Lange-Nielson syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Propionic acidemia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acetyl-CoA: acyltransferase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Porcine stress syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial acantholysis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deficiency of hydroxymethylglutaryl-CoA lyase |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deficiency of histidine ammonia-lyase |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deficiency of methylmalonyl-coenzyme A mutase |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Homogentisate 1,2-dioxygenase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deficiency of proline dipeptidase |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Tyrosinemia type III |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Neonatal pseudo-hydrocephalic progeroid syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ichthyosis linearis circumflexa |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ataxia-telangiectasia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Laron-type isolated somatotropin defect |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Job's syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive severe combined immunodeficiency disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glycogen storage disease, type I |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lipoprotein glomerulopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Peters plus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Arterial tortuosity syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Essential pentosuria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ultraviolet sensitive syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| 21-hydroxylase deficiency |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| 2-hydroxyglutaric aciduria |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| North American Indian childhood cirrhosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Myopathy with deficiency of iron-sulfur cluster assembly enzyme |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Neutral lipid storage disease with myopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Myoclonic epilepsy myopathy sensory ataxia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Progressive bulbar palsy with sensorineural deafness |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Interleukin-1 receptor-associated kinase 4 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperphosphatasemia with intellectual disability |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive idiopathic familial dystonia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital leptin deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alpha-methylacyl-CoA racemase deficiency disorder |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sensorineural deafness and male infertility |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Tetra-amelia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Progressive myoclonus epilepsy with ataxia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dolichospondylic dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Early onset myopathy with fatal cardiomyopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondylocarpotarsal synostosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Persistent Müllerian duct syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital deafness with labyrinthine aplasia, microtia and microdontia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cold-induced sweating syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Chylomicron retention disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR