| 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 |