Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Component of oligomeric golgi complex 2-related congenital disorder of glycosylation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital complete absence of right lower limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital complete absence of left lower limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive central core disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant central core disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital deformity of soft tissue |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of spine |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of spine |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of left foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of left foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of right lower leg |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of right lower leg |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Melorheostosis of left lower leg |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melorheostosis of left lower leg |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital fiber-type disproportion myopathy due to ZAK mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cystic dilatation of common bile duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Central basal perimembranous ventricular septal defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrodactyly of finger of left hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrodactyly of finger of right hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital shortening of left Achilles tendon |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital shortening of right Achilles tendon |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital palsy of trochlear nerve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lymphedema, posterior choanal atresia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Severe oculo-renal-cerebellar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Fryns Smeets Thiry syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic osteodysplastic primordial dwarfism type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Distal arthrogryposis type 10 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple mitochondrial dysfunctions syndrome type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple mitochondrial dysfunctions syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Special AT-rich sequence-binding protein 2-associated syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Special AT-rich sequence-binding protein 2-associated syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant deafness with onychodystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant deafness with onychodystrophy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital autosomal recessive small-platelet thrombocytopenia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple mitochondrial dysfunctions syndrome type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple mitochondrial dysfunctions syndrome type 4 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital abnormal fusion of right carpal bones |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital dysplasia of bilateral upper limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital dysplasia of bilateral upper limbs |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital dysplasia of right upper limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormal fusion of bilateral carpal bones |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormal fusion of bilateral carpal bones |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital dysplasia of left upper limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormal fusion of left carpal bones |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Transmembrane protein 199 congenital disorder of glycosylation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital kyphosis of cervicothoracic spine |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Polymicrogyria due to tubulin beta 2B class IIb mutation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of craniovertebral junction |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Long QT syndrome type 9 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Long QT syndrome type 6 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |