Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Birth head circumference |
Is a |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
|
Head circumference centile |
Is a |
False |
Head circumference |
Inferred relationship |
Existential restriction modifier |
|
Fetal microcephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Sporadic fetal brain disruption sequence |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital macrocephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Bannayan syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
8 |
Intellectual disability, seizures, macrocephaly, obesity syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Macrocephaly and developmental delay syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly with spastic paraplegia and dysmorphism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Macrocephaly, short stature, paraplegia syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Macrocephaly, intellectual disability, autism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Malan overgrowth syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Relative macrocephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Atkin type |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Secondary microcephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Deficiency of leukotriene C4 synthase |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, thin corpus callosum, intellectual disability syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Severe neonatal onset encephalopathy with microcephaly |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Head circumference for age z-score |
Is a |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
|
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Lethal hydranencephaly, diaphragmatic hernia syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference centile |
Is a |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual developmental disorder Christianson type |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Seizures, scoliosis, macrocephaly syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Sanjad Sakati syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive cerebello-cerebral atrophy |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Phospholipase A2 activating protein-associated neurodevelopmental disorder |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Fatty acyl-coenzyme A reductase 1 deficiency |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Ubiquitin specific peptidase 18 deficiency |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
7 |
Menke Hennekam syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Head circumference |
Inferred relationship |
Existential restriction modifier |
5 |