Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Diencephalic mesencephalic junction dysplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Purine rich element binding protein A syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Tall stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Polymicrogyria with optic nerve hypoplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Jawad syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Developmental and speech delay due to SRY-box 5 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
15q overgrowth syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
White Sutton syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Warburg micro syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
RAB18, member RAS oncogene family deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Cyclin-dependent kinase-like 5 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability, craniofacioskeletal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Spondyloepimetaphyseal dysplasia Genevieve type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Zechi Ceide syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
CK syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Roifman syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability with strabismus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Xylosyltransferase 1 congenital disorder of glycosylation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
9q31.1q31.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
14q24.1q24.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
13q12.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Distal Xq28 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Ataxia, photosensitivity, short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Rare non-syndromic intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Piebald trait with neurologic defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Blepharophimosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Diabetes, hypogonadism, deafness, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Goldberg Shprintzen megacolon syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
Biemond syndrome type 2 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Blepharonasofacial malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Achalasia microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked intellectual disability Atkin type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Oro-facial digital syndrome type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Oro-facial digital syndrome type 11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked intellectual disability with ataxia and apraxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked neurodegenerative syndrome Hamel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Fried syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability Seemanova type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Syndromic X-linked intellectual disability type 11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Shrimpton type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Siderius type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Stevenson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability Stocco Dos Santos type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Stoll type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Turner type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Van Esch type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability Wilson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Schimke type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Pai type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Miles Carpenter type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Cilliers type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability Cantagrel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Armfield type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Abidi type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Pallister W syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
12q14 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Shprintzen Goldberg craniosynostosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Branchioskeletogenital syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital cataract with ataxia and deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
X-linked intellectual disability with cerebellar hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Syndromic X-linked intellectual disability type 7 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Spondyloepiphyseal dysplasia tarda Kohn type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |