Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive central core disease |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant central core disease (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital deformity of soft tissue |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of right foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of right foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of left foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of left foot (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of right lower leg (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of right lower leg (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of left lower leg |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of left lower leg |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital fiber-type disproportion myopathy due to ZAK mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital fiber-type disproportion myopathy due to SELENON mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital cystic dilatation of common bile duct |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Central basal perimembranous ventricular septal defect (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Macrodactyly of finger of left hand (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Macrodactyly of finger of right hand (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital short left Achilles tendon |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital short right Achilles tendon |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lymphedema, posterior choanal atresia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Fryns Smeets Thiry syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Microcephalic osteodysplastic primordial dwarfism type II |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital fiber-type disproportion myopathy due to TPM3 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Placenta accreta without haemorrhage |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Placenta accreta |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Progressive cerebello-cerebral atrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Distal arthrogryposis type 10 (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
SATB2-associated syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
SATB2-associated syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Short umbilical cord |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of right carpal bones (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital dysplasia of right upper limb (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital abnormal fusion of carpal bones |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital abnormal fusion of carpal bones |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital dysplasia of left upper limb (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of left carpal bones (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Congenital kyphosis of cervicothoracic spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
4H leukodystrophy (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Polymicrogyria due to TUBB2B mutation |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Congenital anomaly of craniovertebral junction (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital kyphosis of cervicothoracic spine (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Cerebral ventriculomegaly, cystic kidney disease |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Mandibulofacial dysostosis with alopecia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Incomplete achromatopsia |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |