| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Craniofacial ulnar renal syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Craniosynostosis, anal anomaly, porokeratosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Craniosynostosis and intracranial calcification syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cutaneous photosensitivity and lethal colitis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cystic leukoencephalopathy without megalencephaly |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Chondrodysplasia with disorder of sex development syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cervical hypertrichosis and peripheral neuropathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos syndrome cardiac valvular type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos syndrome musculocontractural type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Eiken syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Encephalopathy due to prosaposin deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Asparagine-linked glycosylation 1 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Filippi syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deafness with skeletal dysplasia and lip granuloma syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Frank-Ter Haar syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Asparagine-linked glycosylation 3 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Asparagine-linked glycosylation 8 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Asparagine-linked glycosylation 9 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alopecia, contracture, dwarfism, intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Amaurosis hypertrichosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cloverleaf skull with multiple congenital anomalies syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cerebro-oculo-dento-auriculo-skeletal syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ehlers-Danlos syndrome progeroid type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Fine Lubinsky syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hair defect with photosensitivity and intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hall Riggs syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Heart defect and limb shortening syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Postaxial polydactyly and intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deaf blind hypopigmentation syndrome Yemenite type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deafness, enamel hypoplasia, nail defect syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Diaphanospondylodysostosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Diaphragmatic defect, limb deficiency, skull defect syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hydrolethalus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Short stature due to primary acid labile subunit deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Siegler Brewer Carey syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dermatoosteolysis Kirghizian type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Component of oligomeric golgi complex 7 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Component of oligomeric golgi complex 8 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Goldberg Shprintzen megacolon syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary sensory and autonomic neuropathy with deafness and global delay |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hereditary sensory and autonomic neuropathy with spastic paraplegia |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hydrocephalus, cardiac malformation, dense bone syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bifid nose, anorectal anomaly, renal anomaly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Brain dopamine-serotonin vesicular transport disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, epilepsy, bulbous nose syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hidrotic ectodermal dysplasia Halal type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypotonia cystinuria syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hirschsprung disease with deafness and polydactyly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hirschsprung disease with nail hypoplasia and dysmorphism |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Homocystinuria without methylmalonic aciduria |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hypertryptophanemia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypomandibular faciocranial dysostosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Puerto Rican infant hypotonia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Robinow-like syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bilateral microtia with deafness and cleft palate syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypergonadotropic hypogonadism with cataract syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lipodystrophy, intellectual disability, deafness syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lung agenesis with heart defect and thumb anomaly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lymphedema, atrial septal defect, facial changes syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deafness and myopia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Chronic atrial and intestinal dysrhythmia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multiple mitochondrial dysfunctions syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hepatic lipase deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Adult polyglucosan body disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Component of oligomeric golgi complex 5 congenital disorder of glycosylation |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Combined immunodeficiency due to calcium release activated calcium channel dysfunction |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Juvenile primary lateral sclerosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hypertelorism with microtia and facial clefting syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability with cataract and kyphosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Iron-refractory iron deficiency anemia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Kapur Toriello syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Kallman syndrome with heart disease |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Obesity due to prohormone convertase I deficiency |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculopalatocerebral syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculocerebrofacial syndrome Kaufman type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculocutaneous albinism type 5 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculocutaneous albinism type 6 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculocutaneous albinism type 7 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculoosteocutaneous syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Oculotrichodysplasia |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Odontoleukodystrophy |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autoimmune lymphoproliferative syndrome with recurrent viral infection |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bamforth Lazarus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive popliteal pterygium syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR