| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Pseudocholinesterase deficiency |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hypodontia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dentin dysplasia, type II |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acute intermittent porphyria |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cutis laxa, autosomal dominant |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pfeiffer's disease |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pseudo von Willebrand disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary stomatocytosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial amyloid nephropathy with urticaria AND deafness |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Marfan's syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dominant hereditary optic atrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant variant form of albumin |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary gastrogenic lactose intolerance |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Maturity onset diabetes mellitus in young |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Polycystic kidney disease, adult type |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Melnick-Fraser syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alpha-1-antitrypsin deficiency |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary hemochromatosis |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyaline dystrophy of Bruch's membrane |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial amyloid polyneuropathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary oculoleptomeningeal amyloid angiopathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary cerebral amyloid angiopathy, Icelandic type |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cherubism |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Peutz-Jeghers syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary cerebral amyloid angiopathy, Dutch type |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital myotonia, autosomal dominant form |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary elliptocytosis due to deficiency of protein 4.1 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant epidermolysis bullosa simplex |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary nephrogenic diabetes insipidus |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Franceschetti-Klein syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant analbuminemia |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant excess of transthyretin |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary pancreatitis |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary benign intraepithelial dyskeratosis |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Gorlin syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial multiple polyposis syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary elliptocytosis due to beta spectrin defect in self-association |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary elliptocytosis due to abnormal protein 4.1 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Benign autosomal dominant osteopetrosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant oculocutaneous albinism |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary angioedema |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| White sponge nevus of mucosa |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pseudohypoaldosteronism, type 1, dominant form |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dominant autosomal hereditary disorder, complete penetrance |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dominant autosomal hereditary disorder, incomplete penetrance |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary elliptocytosis due to alpha spectrin defect |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Vitelliform dystrophy |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Neurofibromatosis type 1 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hemiplegic migraine |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant deficiency of plasminogen |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant late onset basal ganglia degeneration |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant idiopathic familial dystonia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant sensory neuropathy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant retinitis pigmentosa |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Amelogenesis imperfecta - hypoplastic autosomal dominant - rough |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant hypophosphatemic bone disease |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant muscular dystrophy not predominantly limb girdle |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial chronic mucocutaneous candidiasis - dominant type |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant ichthyosis vulgaris |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant lamellar ichthyosis |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant cystoid macular edema |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrodysostosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrocephalosyndactyly type V |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant mutilating keratoderma |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Reis-Bucklers' corneal dystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| White sponge nevus of mucosa |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Whyte Hemingway carpal tarsal phalangeal osteolyses |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Freeman-Sheldon syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal dominant epidermolysis bullosa simplex |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary benign intraepithelial dyskeratosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multiple endocrine neoplasia, type 3 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Noonan's syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multiple congenital exostosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hawkinsinuria |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Currarino triad |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Benign neonatal familial convulsions |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Reticulate acropigmentation of Kitamura |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multiple lentigines syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cleidocranial dysostosis |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Neurofibromatosis type 2 |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Thiel-Behnke corneal dystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| May Hegglin syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Roussy-Levy syndrome |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Schnyder crystalline cornea dystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Andersen Tawil syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Episodic ataxia |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary angioedema with normal C1 esterase inhibitor activity |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Steatocystoma multiplex |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Li-Fraumeni syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrocephalosyndactyly type I |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glucose transporter protein type 1 deficiency syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Loeys-Dietz syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Adult onset autosomal dominant leukodystrophy |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Heritable pulmonary arterial hypertension due to bone morphogenetic protein receptor type II mutation |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| SOX2 anophthalmia syndrome |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Paroxysmal extreme pain disorder |
Is a |
True |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| WNT4 Müllerian aplasia and ovarian dysfunction |
Is a |
False |
Autosomal dominant hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR