Charge syndrome

Preferred Label : Charge syndrome;

CISMeF acronym : HHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; HHS; Hall-hittner syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 7 gene (CHD7, 608892.0001);

Laboratory abnormalities : Hypocalcemia;

Prefixed ID : #214800;

Details

Origin ID

214800;

UMLS CUI

C0265354;

Automatic exact mappings (from CISMeF team)
- Department of Health and Human Services [NCIt concept]
- Diethylstilbestrol syndrome [ORDO Disease]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- LE syndrome [MedDRA LLT]
- Milles' syndrome [MedDRA LLT]
- Syndrome [NCIt concept]
- branchio-oto-renal syndrome [MeSH Descriptor]
- cluster headache [SNOMED Notion]
- disease, nos [SNOMED Notion]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- hypotrichosis 1 [DO Concept]
- polypeptide N-acetylgalactosaminyltransferase 3 [ORDO Gene]
- syndrome [MeSH Descriptor]
- syndrome [MeSH concept]
Currated CISMeF NLP mapping
- CHARGE Syndrome [NCIt concept]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [Disease (Nov.)]
- CHARGE syndrome [ICD-11 More detail]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [MeSH Descriptor]
- CHARGE syndrome [MeSH concept]
- CHARGE syndrome [ORDO Disease]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]
DO Cross reference
- CHARGE syndrome [DO Concept]
Genes related to phenotype
- Chromodomain helicase dna-binding protein 7 [OMIM gene]
HPO term(s)
- Abnormal palmar dermatoglyphics [HPO term]
- Abnormal rib morphology [HPO term]
- Absent radius [HPO term]
- Absent tibia [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Anosmia [HPO term]
- Aplasia of the semicircular canal [HPO term]
- Aplasia/Hypoplasia of the thymus [HPO term]
- Arrhinencephaly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid femur [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Cataract [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Deafness [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Double outlet right ventricle [HPO term]
- Down-sloping shoulders [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duodenal atresia [HPO term]
- Dysphagia [HPO term]
- Dysplastic tricuspid valve [HPO term]
- Esophageal atresia [HPO term]
- External genital hypoplasia [HPO term]
- Facial asymmetry [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Gonadotropin deficiency [HPO term]
- Gonadotropin deficiency [HPO term]
- Hand monodactyly [HPO term]
- Hand polydactyly [HPO term]
- Hemivertebrae [HPO term]
- Holoprosencephaly [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypocalcemia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoparathyroidism [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Hypoplastic male genitalia [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Isolated cases [HPO term]
- Labial hypoplasia [HPO term]
- Lop ear [HPO term]
- Low-set ears [HPO term]
- Lymphopenia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Mixed hearing impairment [HPO term]
- Motor delay [HPO term]
- Omphalocele [HPO term]
- Overriding aorta [HPO term]
- Parathyroid hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Posterior choanal atresia [HPO term]
- Postnatal growth retardation [HPO term]
- Ptosis [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonic stenosis [HPO term]
- Radial head subluxation [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Retinal coloboma [HPO term]
- Right aortic arch [HPO term]
- Scoliosis [HPO term]
- Secundum atrial septal defect [HPO term]
- Self-mutilation [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short thumb [HPO term]
- Sloping shoulders [HPO term]
- Sporadic [HPO term]
- Square face [HPO term]
- Tetralogy of Fallot [HPO term]
- Tracheoesophageal fistula [HPO term]
- Umbilical hernia [HPO term]
- Unilateral microphthalmos [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- CHARGE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHARGE Syndrome [NCIt concept]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- CHARGE syndrome [MeSH Descriptor]
- CHARGE syndrome [MeSH concept]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [Disease (Nov.)]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients