Hardikar syndrome

Preferred Label : Hardikar syndrome;

Symbol : HDKR;

Type : Phenotype, molecular basis known;

Prefixed ID : #301068;

Details

Origin ID

301068;

UMLS CUI

C0795969;

Currated CISMeF NLP mapping
- Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) [SNOMED CT concept]
- Cholestasis-pigmentary retinopathy-cleft palate syndrome [ORDO Disease]
- Hardikar syndrome [MeSH concept]
- Hardikar syndrome [Disease (Nov.)]
- hardikar syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Mediator complex subunit 12 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Atrial septal defect [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Bile duct proliferation [HPO term]
- Bladder exstrophy [HPO term]
- Celiac disease [HPO term]
- Cholangitis [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Cleft soft palate [HPO term]
- Coarctation of aorta [HPO term]
- Convergence excess esotropia [HPO term]
- Decreased liver function [HPO term]
- Decreased serum insulin-like growth factor 1 [HPO term]
- Elevated hepatic transaminase [HPO term]
- Esophageal varix [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastric varix [HPO term]
- Growth delay [HPO term]
- Hematemesis [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypersplenism [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the bladder [HPO term]
- Impaired growth-hormone response to glucagon stimulation test [HPO term]
- Intestinal malrotation [HPO term]
- Intrahepatic bile duct cysts [HPO term]
- Intrahepatic bile duct dilatation [HPO term]
- Irritability [HPO term]
- Jaundice [HPO term]
- Lacrimal duct stenosis [HPO term]
- Mild hearing impairment [HPO term]
- Osteoporosis [HPO term]
- Partial anomalous pulmonary venous return [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pigmentary retinopathy [HPO term]
- Portal hypertension [HPO term]
- Portal inflammation [HPO term]
- Preauricular pit [HPO term]
- Premature rupture of membranes [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Pruritus [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pyelonephritis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Thrombocytopenia [HPO term]
- Umbilical hernia [HPO term]
- Unilateral cleft lip [HPO term]
- Unilateral cleft palate [HPO term]
- Ventricular septal defect [HPO term]
- Vertigo [HPO term]
- Vesicoureteral reflux [HPO term]
- Vomiting [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Cholestasis-pigmentary retinopathy-cleft palate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) [SNOMED CT concept]
- Hardikar syndrome [MeSH concept]
- Hardikar syndrome [Disease (Nov.)]
- hardikar syndrome [MeSH Supplementary Concept]

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