Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Birth head circumference equal to or greater than 97th centile |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital microcephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Amish lethal microcephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Achalasia microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
3-phosphoglycerate dehydrogenase deficiency infantile form |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Anonychia with microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Aphalangy and syndactyly with microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Autosomal dominant primary microcephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft palate, large ears, small head syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital intrauterine infection-like syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Cutaneous mastocytosis, short stature, hearing loss syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Autosomal recessive primary microcephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Goldberg Shprintzen megacolon syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
7 |
Filippi syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Hydromicrocephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
8 |
Hall Riggs syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Jawad syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism Alazami type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism Dauber type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Lowry MacLean syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalic osteodysplastic dysplasia Saul Wilson type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus cardiomyopathy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus cleft palate syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism of Toriello type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus co-occurrent with cervical spine fusion anomaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus microcornea syndrome of Seemanova type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus with albinism and digital anomaly syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus with cardiac defect and lung malsegmentation syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly with deafness and intellectual disability syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalus, lymphedema, chorioretinopathy syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly with simplified gyral pattern |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly-capillary malformation syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Neu-Laxova syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Oculocerebrofacial syndrome Kaufman type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Oro-facial digital syndrome type 14 |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
7 |
Oculopalatocerebral syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Prominent glabella with microcephaly and hypogenitalism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Seckel syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
6 |
Pseudoprogeria syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Severe X-linked intellectual disability Gustavson type |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic osteodysplastic primordial dwarfism type II |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
Ring finger protein 13-related severe early-onset epileptic encephalopathy |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
2 |
19p13.3 microduplication syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
4 |
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
3 |
nudE neurodevelopment protein 1-related microhydranencephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Cerebellar-facial-dental syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Existential restriction modifier |
8 |