Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Stromme syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Witteveen Kolk syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Agenesis of scrotum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Sugarman brachydactyly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Sugarman brachydactyly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Sugarman brachydactyly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Tubulinopathy-associated dysgyria |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Tubulinopathy-associated dysgyria |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Tubulinopathy-associated dysgyria |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Seizures, scoliosis, macrocephaly syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
4 |
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Monocarboxylate transporter 8 deficiency |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital lordosis deformity of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital lordosis and scoliosis deformity of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital lordosis and scoliosis deformity of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Unilateral multicystic renal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Unilateral multicystic renal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Basel Vanagaite Smirin Yosef syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Osteogenesis imperfecta type IIC |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary hemorrhagic telangiectasia of gingiva |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary hemorrhagic telangiectasia of gingiva |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Osteogenesis imperfecta, type IV B |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Melorheostosis with osteopoikilosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis with osteopoikilosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Hallermann Streiff like syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Hallermann Streiff like syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Sanjad Sakati syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Posterior meningocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Posterior meningocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Posterior meningocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Microform holoprosencephaly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal recessive dysgenesis of anterior segment of eye |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Familial cavitary optic disc anomaly |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital portosystemic shunt |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital portosystemic shunt |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Combined immunodeficiency, enteropathy spectrum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
4 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital complete absence of right lower limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital complete absence of left lower limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Dieulafoy lesion of small intestine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Dieulafoy lesion of small intestine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive central core disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant central core disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital deformity of soft tissue |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of right foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of right foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of left foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of left foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of right lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of right lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of left lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of left lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital fiber-type disproportion myopathy due to ZAK mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cystic dilatation of common bile duct |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |