| 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 |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
| Microcephalic osteodysplastic primordial dwarfism type II |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
2 |
| 19p13.3 microduplication syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
3 |
| NDE1-related microhydranencephaly |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
| Cerebellar-facial-dental syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
5 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
8 |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
| Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
9 |
| SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
4 |
| Congenital pontocerebellar hypoplasia type 14 |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
| AMeD syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |
| CIMDAG syndrome |
Interprets |
True |
Birth head circumference |
Inferred relationship |
Some |
6 |