| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Zellweger-like syndrome without peroxisomal anomaly |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| DK phocomelia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Partial agenesis of pancreas |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Brittle cornea syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital cataract with ataxia and deafness syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive spastic paraplegia type 39 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia Shohat type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepiphyseal dysplasia tarda Kohn type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia aggrecan type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia matrilin-3 type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pyknoachondrogenesis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Progressive cavitating leukoencephalopathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lathosterolosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Pelviscapular dysplasia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus with albinism and digital anomaly syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus with cardiac defect and lung malsegmentation syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus cardiomyopathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lethal faciocardiomelic dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lethal recessive chondrodysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lethal omphalocele with cleft palate syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Lethal Larsen-like syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Ectodermal dysplasia with acanthosis nigricans syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Late-onset junctional epidermolysis bullosa |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Deficiency of dimethylglycine dehydrogenase |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital bile acid synthesis defect type 3 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cone dystrophy with supernormal rod response |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cleft palate with stapes fixation and oligodontia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| 2p21 microdeletion syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Gingival fibromatosis with facial dysmorphism syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Multiple epiphyseal dysplasia Al-Gazali type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Vici syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia Irapa type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Absent thumb with short stature and immunodeficiency syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Renal dysplasia with limb defect syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital hypoplasia of ulna and intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Van den Ende-Gupta syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Trichomegaly with retina pigmentary degeneration and dwarfism syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Taurodontia with absent teeth and sparse hair syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Tel Hashomer camptodactyly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Haim Munk syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Hemochromatosis type 3 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Charcot-Marie-Tooth disease type 2B2 |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Alport syndrome autosomal recessive |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bartter syndrome type 4a |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Microphthalmia with brain atrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrofrontofacionasal dysostosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrootoocular syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrorenal mandibular syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrocapitofemoral dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrocephalopolydactyly |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrocraniofacial dysostosis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Campomelia Cumming type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Camptodactyly syndrome Guadalajara type 1 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Camptodactyly syndrome Guadalajara type 2 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cardiomyopathy with cataract and hip spine disease syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrofacial dysostosis Kennedy Teebi type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acrofacial dysostosis Rodriguez type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Adducted thumbs and arthrogryposis syndrome Christian type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Adult-onset autosomal recessive sideroblastic anemia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Adult-onset dystonia parkinsonism |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Anonychia with microcephaly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Anophthalmia plus syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aplasia cutis with myopia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aplasia cutis congenita with intestinal lymphangiectasia syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Arthrogryposis multiplex congenita and whistling face syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Athabaskan brainstem dysgenesis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Attenuated Chédiak-Higashi syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Bosley Salih Alorainy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Braddock syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Brain calcification Rajab type |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Syndactyly type 7 |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cerebro-facio-thoracic dysplasia |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Charcot-Marie-Tooth disease type 2H |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Epidermodysplasia verruciformis |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cystic fibrosis with gastritis and megaloblastic anemia syndrome |
Is a |
False |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Spinocerebellar degeneration and corneal dystrophy syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Cranioosteoarthropathy |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Craniofacial dyssynostosis syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
| Craniofacial ulnar renal syndrome |
Is a |
True |
Autosomal recessive hereditary disorder |
Inferred relationship |
Existential restriction modifier |
|
FHIR