{"Name":"Trichohepatoenteric syndrome","DiseaseID__c":"GARD:0005258","id":5258,"encodedName":"trichohepatoenteric-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trichohepatoenteric syndrome","Xref_IDs__c":"703406006; C1857276; DOID:0111414; MEDGEN:347405; MONDO:0009105; NBK475802; OMIMPS:222470; ORPHA:84064","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009105","Disease_Description__c":"A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.","GARD_Name__c":"Trichohepatoenteric syndrome","GARD_Synonym__c":"fatal infantile diarrhea with trichorrhexis nodosa; intractable diarrhea with phenotypic anomalies; phenotypic diarrhea; phenotypic diarrhea of infancy; phenotypic diarrhoea; sd/the; syndromic diarrhea; syndromic diarrhea/tricho-hepato-enteric syndrome; syndromic diarrhoea; the syndrome; tricho-hepato-enteric syndrome; trichohepatoenteric syndrome type 1","Curated_Disease_Description_Source__c":"GARD:0005258","Curated_Disease_Description__c":"Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life. Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa. Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as 'coarse.' Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition. Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:84064","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009105","ORPHANET_ID__c":"ORPHA:84064","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea sindrómica","Spanish_Description_Source__c":"ORPHA:84064","Spanish_Description__c":"Es una enfermedad gastroenterológica muy poco frecuente que se manifiesta como diarrea intratable en el primer mes de vida, con fallo de medro y asociada a dismorfia facial, anomalías capilares y, en algunos casos, trastornos inmunológicos y retraso del crecimiento intrauterino.","Spanish_Disease_Name__c":"diarrea sindrómica","Spanish_GARD_Synonym__c":"diarrea fenotípica; diarrea sindrómica/síndrome trico-hepato-entérico; sd/the; síndrome trico-hepato-entérico; síndrome tricohepatoentérico","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life. Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa. Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as 'coarse.' Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition. Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.","Curated_Disease_Description_Source__c":"GARD:0005258","GARD_Synonym__c":"fatal infantile diarrhea with trichorrhexis nodosa; intractable diarrhea with phenotypic anomalies; phenotypic diarrhea; phenotypic diarrhea of infancy; phenotypic diarrhoea; sd/the; syndromic diarrhea; syndromic diarrhea/tricho-hepato-enteric syndrome; syndromic diarrhoea; the syndrome; tricho-hepato-enteric syndrome; trichohepatoenteric syndrome type 1","Name":"Trichohepatoenteric syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:84064"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:84064"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:84064"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857276"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK475802","Source__c":"Gene Review","Xref__c":"NBK475802"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS222470","Source__c":"MONDO:0009105","Xref__c":"OMIMPS:222470"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347405","Source__c":"C1857276","Xref__c":"MEDGEN:347405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703406006","Source__c":"C1857276; MONDO:0009105","Xref__c":"703406006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857276","Source__c":"C1857276","Xref__c":"C1857276"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111414","Source__c":"MONDO:0009105","Xref__c":"DOID:0111414"},{"URL__c":"https://www.orpha.net/en/disease/detail/84064","Source__c":"C1857276; MONDO:0009105; ORPHA:84064","Xref__c":"ORPHA:84064"},{"URL__c":"https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome","Source__c":"GARD:0005258","Xref__c":"https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009105","Source__c":"GARD:0005258","Xref__c":"MONDO:0009105"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SKIC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/skic2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SKIC3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/skic3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005263","HPO_Synonym__c":"Stomach inflammation","HPO_Name__c":"Gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003139","HPO_Synonym__c":"Panypogammaglobulinemia","HPO_Name__c":"Panhypogammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Stenosis of a peripheral branch of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004969","HPO_Synonym__c":"Narrowing of peripheral lung artery; peripheral pulmonary stenosis; Peripheral pulmonic stenosis","HPO_Name__c":"Peripheral pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair that is disorderly, stands out from the scalp, and cannot be combed flat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030056","HPO_Synonym__c":"Uncombable hair","HPO_Name__c":"Uncombable hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007513","HPO_Synonym__c":"Fair skin; Pale pigmentation","HPO_Name__c":"Generalized hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Average platelet volume above the upper limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011877","HPO_Synonym__c":"Large platelets","HPO_Name__c":"Increased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Passage of many stools containing blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025085","HPO_Synonym__c":"Bloody bowel movement; Bloody diarrhea","HPO_Name__c":"Bloody diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002884","HPO_Name__c":"Hepatoblastoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000778","HPO_Synonym__c":"Small thymus; Thymic hypoplasia; Thymus hypoplasia","HPO_Name__c":"Hypoplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The enteric villi are atrophic or absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011473","HPO_Synonym__c":"Atrophy of small intestinal villi; Villous degeneration","HPO_Name__c":"Villous atrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any morphological abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011121","HPO_Synonym__c":"Abnormal skin morphology; Abnormal skin structure; Abnormality of skin morphology","HPO_Name__c":"Abnormal skin morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of multiple cysts in both kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000113","HPO_Synonym__c":"Polycystic kidneys","HPO_Name__c":"Polycystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the homeostasis (concentration) of iron cation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011031","HPO_Name__c":"Abnormality of iron homeostasis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009886","HPO_Name__c":"Trichorrhexis nodosa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002041","HPO_Name__c":"Intractable diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025156","HPO_Synonym__c":"Dependency on IV nutrition","HPO_Name__c":"Dependency on intravenous nutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001647","HPO_Synonym__c":"Aortic valve has two leaflets rather than three","HPO_Name__c":"Bicuspid aortic valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000957","HPO_Synonym__c":"Cafe au lait spots; Cafe-au-lait macule; Cafe-au-lait macules","HPO_Name__c":"Cafe-au-lait spot","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:84064","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Rheumatology","Gastroenterology","Pediatrics"]},"synonyms":["fatal infantile diarrhea with trichorrhexis nodosa"," intractable diarrhea with phenotypic anomalies"," phenotypic diarrhea"," phenotypic diarrhea of infancy"," phenotypic diarrhoea"," sd/the"," syndromic diarrhea"," syndromic diarrhea/tricho-hepato-enteric syndrome"," syndromic diarrhoea"," the syndrome"," tricho-hepato-enteric syndrome"," trichohepatoenteric syndrome type 1"]}