Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital chalasia of oesophagus |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital diverticulitis of small intestine (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Median nodule of upper lip (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Carney Stratakis syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness, small bowel diverticulosis, neuropathy syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Boder syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic diarrhea due to glucoamylase deficiency (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperinsulinism due to HNF4A deficiency |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperinsulinism due to deficiency of glucokinase |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperinsulinism and hyperammonaemia syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mottled teeth, congenital |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hutchinson's teeth |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mitochondrial DNA depletion syndrome hepatocerebrorenal form |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Navajo neurohepatopathy |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aberrant retro-esophageal subclavian artery causing dysphagia |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital teratoma of nasopharynx (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Moon's molar teeth |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mulberry molar teeth |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary hemorrhagic telangiectasia of gingiva |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal tubulopathy with encephalopathy and liver failure syndrome |
Is a |
True |
Disorder of digestive system specific to fetus OR newborn |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|