Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Tall stature, scoliosis, macrodactyly of great toe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Tall stature, scoliosis, macrodactyly of great toe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Sinoatrial node dysfunction and deafness |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Sinoatrial node dysfunction and deafness |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
2p13.2 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
2p13.2 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
2p13.2 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spastic paraplegia type 70 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spastic paraplegia type 70 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
11p15.4 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
11p15.4 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
11p15.4 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
3q27.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
3q27.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
3q27.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
16q24.1 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
16q24.1 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
16q24.1 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital Horner syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital Horner syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital Horner syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Familial omphalocele syndrome with facial dysmorphism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Familial omphalocele syndrome with facial dysmorphism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Familial omphalocele syndrome with facial dysmorphism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Kagami Ogata syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal 7q11.23 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Distal 7q11.23 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metaphyseal chondrodysplasia Kaitila type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 12p |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 12p |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
49,XXXYY syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
49,XXXYY syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrichosis cubiti |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrichosis cubiti |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hypertrichosis cubiti |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Tetramelic monodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tetramelic monodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Leptomyelolipoma |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Leptomyelolipoma |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dentin dysplasia, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Inherited cutaneous hyperpigmentation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Familial omphalocele syndrome with facial dysmorphism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked reticulate pigmentary disorder with systemic manifestation syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Isolated arhinencephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Isolated arhinencephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dentin dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dyschromatosis universalis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cortical dysplasia with focal epilepsy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Rhizomelic syndrome Urbach type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pilotto syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pilotto syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Terminal osseous dysplasia and pigmentary defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dentin dysplasia with sclerotic bone syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dentin dysplasia with sclerotic bone syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant severe congenital neutropenia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Holoprosencephaly with caudal dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Holoprosencephaly with caudal dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Holoprosencephaly with caudal dysgenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Postaxial tetramelic oligodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Postaxial tetramelic oligodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Imperforate oropharynx, costovertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Imperforate oropharynx, costovertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Imperforate oropharynx, costovertebral anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectrodactyly polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ectrodactyly polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectrodactyly polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
9q22.3 deletion syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dermatopathia pigmentosa reticularis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Naegeli-Franceschetti-Jadassohn syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital panfollicular nevus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Monosomy 9p |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Monosomy 9p |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Edinburgh malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, short stature, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, short stature, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hallux varus, preaxial polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hallux varus, preaxial polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Hallux varus, preaxial polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hallux varus, preaxial polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Oculootodental syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |