Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Oligohydramnios sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Oligohydramnios sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital negative ulnar variant of wrist |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopia lentis et pupillae |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopia lentis et pupillae |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cataract |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Simple syndactyly of toes of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Simple syndactyly of toes of left foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Peripheral congenital arteriovenous aneurysm |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Acheiropodia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Acheiropodia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Acheiropodia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Acheiropodia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital abnormal fusion of femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cubitus valgus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital rearfoot valgus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital forefoot valgus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cubitus varus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metatarsus primus varus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Genu recurvatum and long leg bone bowing |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cleft of posterior cricoid cartilage |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cleft thyroid cartilage |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Triphalangeal thumbs with onychodystrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital onychauxis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Nail dystrophy due to Darier's disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Fronto-frontal dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cherubism with gingival fibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spastic paraplegia type 69 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive spastic paraplegia type 69 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal trisomy 18q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal trisomy 18q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked osteoporosis with fractures |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intermandibular dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Oculodento-osseous dysplasia - mild type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Oculodento-osseous dysplasia - severe type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 4q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 4q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive spastic paraplegia type 60 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spastic paraplegia type 60 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Xp22.13p22.2 duplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Xp22.13p22.2 duplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital inguinal hernia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Oculoauriculofrontonasal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Oculoauriculofrontonasal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brachydactyly, short stature, retinitis pigmentosa syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital pseudoarthrosis of limb |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Internasal dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive spastic paraplegia type 71 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Chondrodysplasia with joint dislocations gPAPP type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Maxillo-zygomatic dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysplasia of eye |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
10q22.3q23.3 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
10q22.3q23.3 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Familial congenital palsy of trochlear nerve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hajdu-Cheney syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Male emopamil-binding protein disorder with neurological defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Male emopamil-binding protein disorder with neurological defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive spastic paraplegia type 66 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive spastic paraplegia type 66 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spondylometaphyseal dysplasia Megarbane type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital atresia of ostium of coronary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Non-distal monosomy 12q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Non-distal monosomy 12q |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral congenital primary hydronephrosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Regional odontodysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepimetaphyseal dysplasia Isidor type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal spastic paraplegia type 72 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Shell teeth |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Familial x-linked hypophosphatemic vitamin D refractory rickets |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 7p syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Distal monosomy 7p syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebellar cortical dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant spastic paraplegia type 3 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant spastic paraplegia type 3 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Inherited congenital spastic tetraplegia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Inherited congenital spastic tetraplegia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Occipital pachygyria and polymicrogyria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Occipital pachygyria and polymicrogyria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |