| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Helicoid peripapillary chorioretinal degeneration |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary cerebral hemorrhage with amyloidosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial platelet syndrome with predisposition to acute myelogenous leukemia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial partial lipodystrophy Kobberling type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microspherophakia with metaphyseal dysplasia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| 8q13 microdeletion syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Laminopathy type Decaudain Vigouroux |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Kleefstra syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Palmoplantar keratoderma with clinodactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypoparathyroidism, deafness, renal disease syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypertelorism Teebi type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial scaphocephaly syndrome McGillivray type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant osteopetrosis type 2 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cryptomicrotia brachydactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital short costocoracoid ligament |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Temple Baraitser syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Atrial septal defect, atrioventricular conduction defect syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant omodysplasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial male-limited precocious puberty |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant striatal neurodegeneration |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant primary hypomagnesemia with hypocalciuria |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polydactyly of biphalangeal thumb |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial Scheuermann disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Butterfly-shaped pigmentary macular dystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant myoglobinuria |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Genochondromatosis type 2 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Infundibulopelvic stenosis multicystic kidney syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary hypercarotenemia and vitamin A deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Isolated optic nerve hypoplasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant tubulointerstitial kidney disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ptosis, strabismus, ectopic pupil syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spastic paraplegia with Paget disease of bone syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Scalp defect postaxial polydactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial isolated congenital asplenia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Splenogonadal fusion, limb defect, micrognathia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Short stature locking fingers syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cyprus facial neuromusculoskeletal syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 10 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 6 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Symphalangism with multiple anomalies of hands and feet syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Brachydactyly and distal symphalangism syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Brachydactyly and preaxial hallux varus syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spastic paraplegia with precocious puberty syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 29 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Camptobrachydactyly |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hemifacial hyperplasia strabismus syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Myoclonus, cerebellar ataxia, deafness syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Banki syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Triphalangeal thumb and dislocation of patella syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Camptodactyly taurinuria syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos and osteogenesis imperfecta syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Distal myopathy with posterior leg and anterior hand involvement |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Distal myopathy with early respiratory muscle involvement |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Carney complex |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Prion protein systemic amyloidosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Long thumb brachydactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polydactyly myopia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spastic paraplegia, nephritis, deafness syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Thumb stiffness, brachydactyly, intellectual disability syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus, lymphedema, chorioretinopathy syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ectodermal dysplasia trichoodontoonychial type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spinocerebellar ataxia type 40 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spinocerebellar ataxia type 38 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Wolfram-like syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant hereditary spastic paraplegia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Floating-Harbor syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Renal coloboma syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant tubulointerstitial disease |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Darier disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial dyskeratotic comedones |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant congenital benign spinal muscular atrophy |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cleft palate, large ears, small head syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial dyskinesia and facial myokymia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial progressive hyperpigmentation and hypopigmentation of skin |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 37 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spastic paraplegia, neuropathy, poikiloderma syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hot water reflex epilepsy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Velofacioskeletal syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spastic ataxia with congenital miosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Curly hair, acral keratoderma, caries syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hyperprolactinemia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial vesicoureteral reflux |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Finnish upper limb onset distal myopathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Isolated congenital adermatoglyphia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dislocation of hip and facial dysmorphism syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Erythema palmare hereditarium |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial myoclonus of cerebral cortex |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Kelch like family member 9 related early-onset distal myopathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR