Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Atypical Norrie disease due to monosomy Xp11.3 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
16p11.2p12.2 microdeletion syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital anomaly of blood vessel of spine |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Combined deficiency of sialidase AND beta galactosidase |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Four X syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
PELVIS syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Proteus like syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Fibrolipoma of filum terminale |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Carrier of Becker muscular dystrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of congenital cardiovascular deformity |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of clubfoot |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of congenital deformity of hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Intra-articular soft tissue procedure for congenital dislocation of the hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Extra-articular soft tissue procedure for congenital dislocation of the hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Osteotomy of ilium for correction of congenital deformity of hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Femoral osteotomy for correction of congenital deformity of hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Pelvic osteotomy for congenital deformity of hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Salter osteotomy for congenital deformity of hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Chiari osteotomy for congenital deformity of hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Colonna osteotomy for congenital deformity of hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Shelf procedure for congenital dislocation of the hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Excision of anlage of fibula |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Excision of anlage of tibia |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Centralization tarsus correction |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Reversal rotation-plasty of ankle |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Gruca tibial bifurcation procedure |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Creation of tibiofibular synostosis |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Correction of upper limb congenital ring constriction band |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Soft tissue procedure for congenital dislocation of the hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Excision of limbus for congenital dislocation of the hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Adductor tenotomy for congenital dislocation of hip |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Triple pelvic osteotomy for congenital dislocation of the hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of tibial pseudoarthrosis by excision and bone lengthening |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Correction of tibial pseudoarthrosis by free fibula graft |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Correction of obstetric palsy |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Primary osteotomy of pelvis for correction of congenital deformity of hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Secondary arthroplasty of hip for correction of congenital deformity |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Proximal femoral osteotomy for correction of congenital dislocation of the hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Pelvic osteotomy for congenital dislocation of the hip |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Repair of congenital pseudoarthrosis of tibia |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Correction of congenital deformity of upper limb |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of congenital deformity of shoulder or upper arm |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
L'Episcopo operation for obstetric palsy |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Zachary operation for obstetric palsy |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Reduction of developmental hip dysplasia by traction |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Correction of congenital deformity of lower limb |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of congenital deformity of hand |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Correction of mirror hand |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Repositioning of thumb for cleft hand |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Excision of epiphyseal bar |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Excision of epiphyseal bar with autogenous soft tissue graft |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Percutaneous transluminal ablation of congenital heart malformation |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Mild androgen insensitivity syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Mild androgen insensitivity syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Infertile male syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Infertile male syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Familial caudal dysgenesis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Realignment of congenital ulnar drift |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast |
Indirect morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Developmental immaturity |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Exstrophy |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Hypomyelination |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Embryonal rest AND/OR persistent embryonic structure |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Ovotestis |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Correction of congenital clubfoot |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
X-linked intellectual disability hypotonic face syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of tarsus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Angelman syndrome due to maternal monosomy 15q11q13 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Angelman syndrome due to maternal monosomy 15q11q13 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
2p15p16.1 microdeletion syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Taurodontia with absent teeth and sparse hair syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Repair of bat ear |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Split spinal cord malformation type I |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
XK aprosencephaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Malformation of teeth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Hydrocephalus with anomaly of aqueduct of Sylvius |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Chondrodysplasia punctata, X-linked dominant type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Syndromic X-linked intellectual disability due to JARID1C mutation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
N syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
MARCH syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Tall stature, intellectual disability, renal anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Overgrowth syndrome with 2q37 translocation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Childhood-onset benign chorea with striatal involvement |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
RERE-related neurodevelopmental syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
TELO2-related intellectual disability, neurodevelopmental disorder |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
TBCK-related intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |