Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Combined immunodeficiency, enteropathy spectrum |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Steel syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Steel syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Steel syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Steel syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Amelia of right lower limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Amelia of left lower limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dieulafoy lesion of small intestine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dieulafoy lesion of small intestine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Autosomal recessive central core disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant central core disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital deformity of soft tissue |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of right foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of right foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of left foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of left foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of right lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of right lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Melorheostosis of left lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Melorheostosis of left lower leg |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital fibre-type disproportion myopathy due to ZAK mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to SELENON mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
MIRAGE syndrome |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1095582865 |
MIRAGE syndrome |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
539252 |
MIRAGE syndrome |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
469367688 |
Congenital cystic dilatation of common bile duct |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Central basal perimembranous ventricular septal defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Macrodactyly of left finger |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Macrodactyly of right finger |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital short left Achilles tendon |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital short right Achilles tendon |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lymphoedema, posterior choanal atresia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Dysraphism, cleft lip and palate, limb reduction defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Severe oculo-renal-cerebellar syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Fryns Smeets Thiry syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital hydrocephalus, low insertion of umbilicus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Microcephalic osteodysplastic primordial dwarfism type II |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital fibre-type disproportion myopathy due to TPM3 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Placenta accreta without haemorrhage |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Placenta accreta |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Progressive cerebello-cerebral atrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Distal arthrogryposis type 10 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
SATB2-associated syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
SATB2-associated syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Autosomal dominant deafness with onychodystrophy syndrome |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Short umbilical cord |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of right carpal bones |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital dysplasia of right upper limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital abnormal fusion of carpal bones |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bilateral congenital abnormal fusion of carpal bones |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital dysplasia of left upper limb |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormal fusion of left carpal bones |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |