| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Cerebroretinal vasculopathy |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cerebrooculonasal syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos syndrome vascular-like type |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Angel-shaped phalangoepiphyseal dysplasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aniridia, ptosis, intellectual disability, familial obesity syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Holt-Oram syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Heart-hand syndrome Slovenian type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Short fifth metacarpal insulin resistance syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, pituitary and cerebellar defect and small sella turcica syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Short tarsus with absence of lower eyelashes syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dacryocystitis and osteopoikilosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dermo-odonto dysplasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Developmental malformation, deafness, dystonia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Diffuse palmoplantar keratoderma and acrocyanosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial Alzheimer-like prion disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aplasia of fibula and ectrodactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Coloboma of macula with brachydactyly type B syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary sensory and autonomic neuropathy type 1B |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Blepharocheilodontic syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Blepharoptosis, myopia, ectopia lentis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Branchiogenic deafness syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary vascular retinopathy |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hip dysplasia Beukes type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial developmental dysphasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hunter McAlpine craniosynostosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Huntington disease-like 2 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperinsulinism due to insulin receptor deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperinsulinism due to uncoupling protein 2 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microphthalmia with brain and digit anomaly |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Scalp, ear, nipple syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Schilbach Rott syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Rombo syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Blindness, scoliosis, arachnodactyly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperuricemia, anemia, renal failure syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Limb mammary syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lowry MacLean syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lymphedema and cerebral arteriovenous anomaly syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Karsch Neugebauer syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Median nodule of upper lip |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Johnson neuroectodermal syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Isolated autosomal dominant hypomagnesemia Glaudemans type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculootoradial syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Odonto-tricho-ungual-digito-palmar syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Book syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ballard syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Juvenile cataract, microcornea, renal glucosuria syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Osteocraniostenosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Osteosclerosis, developmental delay, craniosynostosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant beta2-microglobulinic amyloidosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dyschondrosteosis and nephritis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Gingival fibromatosis with progressive deafness syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Thickened earlobe with conductive deafness syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial caudal dysgenesis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Palmoplantar keratoderma with deafness syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Parastremmatic dwarfism |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| PTEN hamartoma tumor syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Paraganglioma and gastric stromal sarcoma syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glomerulopathy with fibronectin deposits 2 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial acute necrotizing encephalopathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial multiple fibrofolliculoma |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Kozlowski spondylometaphyseal dysplasia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ramos Arroyo syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Stern Lubinsky Durrie syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Muscular dystrophy Selcen type |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multinodular goiter, cystic kidney, polydactyly syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Nasopalpebral lipoma coloboma syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Non-progressive cerebellar ataxia with intellectual disability |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Noonan syndrome-like disorder with loose anagen hair |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polydactyly of index finger |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polyvalvular heart disease syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Peripheral neuropathy with sensorineural hearing impairment syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ring dermoid of cornea |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Reticular dystrophy of retinal pigment epithelium |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Thoracolaryngopelvic dysplasia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Subepithelial mucinous corneal dystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sensorineural hearing loss, early graying, essential tremor syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 36 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant spastic paraplegia type 4 |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Grant syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Sensorineural deafness with dilated cardiomyopathy syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Patterson Stevenson Fontaine syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pyogenic arthritis, pyoderma gangrenosum, acne syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR