Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Infantile idiopathic scoliosis of cervical spine (disorder) |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile breast hypertrophy (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Refractory infantile spasms (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Refractory infantile spasms (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fibrous hamartoma of infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cradle cap |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Generalized seborrheic dermatitis of infants |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile onset spinocerebellar ataxia (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile onset spinocerebellar ataxia (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pelizaeus-Merzbacher disease, classic form |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pelizaeus-Merzbacher disease, classic form |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile eczema |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excessive crying of infant (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked acrogigantism due to Xq26 microduplication |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Idiopathic hepatitis in infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sclerema neonatorum |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acropustulosis of infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Reactive attachment disorder of infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Miliaria crystallina, infantile (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Miliaria crystallina, infantile (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Underactive infant |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
The spontaneous self-limiting hygroma of infancy. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile pustular psoriasis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile pustular psoriasis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
STING-associated vasculopathy with onset in infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Warts of perianal region in infancy caused by human papillomavirus (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Salt-wasting syndrome of infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile esotropia (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Esotropia with dissociated vertical deviation |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Esotropia with nystagmus |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Esotropia with nystagmus block (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral infantile esotropia of eyes |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral infantile esotropia of eyes |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile esotropia of right eye |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile esotropia of left eye |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile hemangioma of subglottis (disorder) |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic infantile bilateral striatal necrosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Segmental infantile hemangioma |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Propriospinal myoclonus at sleep onset in infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Erythroderma in infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aggressive infantile fibromatosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile digital fibromatosis |
Occurrence |
False |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Miliaria rubra, infantile (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic arterial calcification of infancy (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anemia due to increased requirement in infancy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infant behavior alteration (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile fucosidosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile glycine encephalopathy (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile polyposis of infancy (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile posthaemorrhagic hydrocephalus |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Maternally inherited Leigh syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Interleukin 21 related infantile inflammatory bowel disease (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile pyknocytosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Functional constipation of infant (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial infantile bilateral striatal necrosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fever-associated acute infantile liver failure syndrome (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
LAMA5-related multisystemic syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Self-limited familial neonatal-infantile epilepsy |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Limb girdle muscular dystrophy due to POMK deficiency |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Toilet trained |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Finding of infant milestone |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Impairment of infant development (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Impairment of newborn development |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile pedal papules |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile impetiginized atopic dermatitis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Apparent life-threatening event in infant (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alexander disease type I (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alexander disease type I (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alexander disease type I (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute constipation in infancy (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atypical Krabbe disease due to saposin A deficiency (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atypical Krabbe disease due to saposin A deficiency (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atypical Krabbe disease due to saposin A deficiency (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chronic pneumonitis of infancy (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile digital fibromatosis |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile botulism (disorder) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Victim of infant neglect (finding) |
Occurrence |
True |
Infancy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |