Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Birth head circumference equal to or greater than 97th centile (finding) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Congenital microcephaly (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Amish lethal microcephaly (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Achalasia microcephaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Stimmler syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Anonychia with microcephaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Autosomal dominant primary microcephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Cleft palate, large ears, small head syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Congenital intrauterine infection-like syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
Autosomal recessive primary microcephaly (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
7 |
Filippi syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Hydromicrocephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
8 |
Hall Riggs syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Jawad syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Alazami type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Dauber type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Lowry MacLean syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalus cardiomyopathy syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Microcephalus cleft palate syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalic primordial dwarfism of Toriello type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Hadziselimovic syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalus microcornea syndrome of Seemanova type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
1 |
Microcephalus with albinism and digital anomaly syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephaly with deafness and intellectual disability syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Microcephalus, lymphedema, chorioretinopathy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
Microcephaly with simplified gyral pattern |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
1 |
Microcephaly-capillary malformation syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Neu-Laxova syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Nijmegen breakage syndrome-like disorder (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Oculocerebrofacial syndrome Kaufman type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Oro-facial digital syndrome type 14 |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
7 |
Oculopalatocerebral syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Seckel syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
Pseudoprogeria syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Severe X-linked intellectual disability Gustavson type (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |