Ogden syndrome

Preferred Label : Ogden syndrome;

Symbol : OGDNS;

CISMeF acronym : NATD; OGDNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NATD; N-terminal acetyltransferase deficiency;

Inheritance : X-linked recessive; X-linked dominant;

Molecular basis : Caused by mutation in the NatA catalytic subunit N-alpha-acetyltransferase-10 gene (NAA10, 300013.0001);

Prefixed ID : #300855;

Details

Origin ID

300855;

UMLS CUI

C3275447;

Currated CISMeF NLP mapping
- Ogden Syndrome [NCIt concept]
- Ogden syndrome [DO Concept]
- Ogden syndrome [MedDRA Preferred Term]
- Ogden syndrome [ORDO Disease]
- Ogden syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Ogden syndrome [DO Concept]
Genes related to phenotype
- N-alpha-acetyltransferase 10, nata catalytic subunit [OMIM gene]
HPO term(s)
- Abnormal eyelid morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nares [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Broad hallux [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Deep philtrum [HPO term]
- Delayed cranial suture closure [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted upper lip vermilion [HPO term]
- Facial wrinkling [HPO term]
- Fine hair [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertonia [HPO term]
- Inguinal hernia [HPO term]
- Long eyelashes [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Minimal subcutaneous fat [HPO term]
- Palpebral thickening [HPO term]
- Postnatal growth retardation [HPO term]
- Premature ventricular contraction [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Pulmonary artery stenosis [HPO term]
- Recurrent infections [HPO term]
- Redundant skin [HPO term]
- Scoliosis [HPO term]
- Short columella [HPO term]
- Short stature [HPO term]
- Sparse and thin eyebrow [HPO term]
- Supraventricular tachycardia [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Torsade de pointes [HPO term]
- Underdeveloped nasal alae [HPO term]
- Variable expressivity [HPO term]
- Ventricular septal defect [HPO term]
- Ventricular tachycardia [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Ogden syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ogden Syndrome [NCIt concept]
- Ogden syndrome [ORDO Disease]
- Ogden syndrome [DO Concept]
- Ogden syndrome [MedDRA Preferred Term]
- Ogden syndrome (disorder) [SNOMED CT concept]

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