Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Cohen syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Prader-Willi syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behavior problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Prepubertal bleeding from vagina |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Children's vision screening (procedure) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Dental prophylaxis of child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Topical application of fluoride including prophylaxis, child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Childhood nephrotic syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Steroid sensitive nephrotic syndrome of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Steroid resistant nephrotic syndrome of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Childhood-onset Steinert myotonic dystrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of foot |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of right foot |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of left foot (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral feet (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral feet (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |