| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Early childhood caries |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
| Toddler |
Is a |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
|
| Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| Early childhood developmental disability (disorder) |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. |
Occurrence |
False |
Early childhood (qualifier value) |
Inferred relationship |
Some |
3 |
| A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
| Reactive attachment disorder of early childhood |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
| Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
| Frequent night waking in early childhood (finding) |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
FHIR