Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Emberger syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Hereditary lymphedema type I |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary lymphedema type II |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary lymphedema and yellow nails |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Cholestasis-edema syndrome, Norwegian type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distichiasis-lymphedema syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Male sexual precocity with adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Psychosocial short stature |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Male pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Female pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudohermaphroditism due to congenital adrenal hyperplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital elevation of bilateral scapulae |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Hyperostosis cranialis interna |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperostosis cranialis interna |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive scapulohumeroperoneal distal myopathy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Virilization of female due to adrenal hyperfunction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lymphedema with systemic and visceral involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lymphedema with systemic involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lymphedema with visceral involvement |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Primary lymphedema due to syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Phospholipase A2 activating protein-associated neurodevelopmental disorder |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Severe myopia, generalized joint laxity, short stature syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Severe myopia, generalized joint laxity, short stature syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
4 |
Diaphragmatic hernia, short bowel, asplenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
8 |
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fibrosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital fibrosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Vertical retraction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Vertical retraction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital fibrosis of inferior rectus muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital fibrosis of inferior rectus muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital kyphoscoliosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Ehlers-Danlos syndrome, hydroxylysine-deficient |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
7 |
Ehlers-Danlos syndrome kyphoscoliotic type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
7 |
Congenital membrane of lacrimal punctum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital corneal leukoma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital distortion of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital expansion of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Ocular motor apraxia Cogan type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital colobomatous cyst of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital colobomatous cyst of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital absence of eye with orbital implant |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Fetal encasement syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital combined bony and soft tissue deformity of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital combined bony and soft tissue deformity of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital complete absence of nasolacrimal drainage system |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital contraction of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Keppen Lubinsky syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Pierpont syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital anomaly of retina of left eye |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of retina of right eye |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of left lacrimal drainage system |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of right lacrimal drainage system |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of bilateral lacrimal drainage systems |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of bilateral lacrimal drainage systems |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital malformation of blood vessel of left orbit proper |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of blood vessel of right orbit proper |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of blood vessel of bilateral orbits proper |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Paraspadias |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Perineal hypospadias |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Prune exopolyphosphatase 1-related neurological syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Ring finger protein 13-related severe early-onset epileptic encephalopathy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Pancreatic agenesis, holoprosencephaly syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Pancreatic agenesis, holoprosencephaly syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Early-onset calcifying leukoencephalopathy, skeletal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Single umbilical cord artery type II |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Single umbilical cord artery type I |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Single umbilical cord artery type III |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Single umbilical cord artery type IV |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Ephrin receptor B4-related lymphatic-related hydrops fetalis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital primary lymphedema of Gordon |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Gap junction protein gamma 2-related late-onset primary lymphedema |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |