Kagami-ogata syndrome

Preferred Label : Kagami-ogata syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Uniparental disomy, paternal, chromosome 14;

Inheritance : Autosomal dominant (loss of maternal allele);

Molecular basis : Caused by chromosome 14 paternal uniparental disomy;

Prefixed ID : #608149;

Détails

Origin ID

608149;

UMLS CUI

C5779872;

Automatic exact mappings (from CISMeF team)
- Kagami-Ogata syndrome [ORDO Disease]
- Kagami-Ogata syndrome [DO Concept]
Currated CISMeF NLP mapping
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 [ORDO Disease]
- Paternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Uniparental disomy of paternal origin of chromosome 14 (disorder) [SNOMED CT concept]
- Uniparental disomy, paternal, chromosome 14 [MeSH concept]
- uniparental disomy, paternal, chromosome 14 [MeSH Supplementary Concept]
DO Cross reference
- Kagami-Ogata syndrome [DO Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Blepharophimosis [HPO term]
- Coxa valga [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Frontal hirsutism [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Kyphoscoliosis [HPO term]
- Laryngomalacia [HPO term]
- Limb undergrowth [HPO term]
- Long clavicles [HPO term]
- Long fingers [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pulmonic stenosis [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short palpebral fissure [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Thin ribs [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Kagami-Ogata syndrome [ORDO Disease]
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation [ORDO Disease]
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion [ORDO Disease]
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 [ORDO Disease]
See also inter- (CISMeF)
- Kagami Ogata syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kagami Ogata syndrome (disorder) [SNOMED CT concept]
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 [ORDO Disease]
- Uniparental disomy of paternal origin of chromosome 14 (disorder) [SNOMED CT concept]
- Uniparental disomy, paternal, chromosome 14 [MeSH concept]
- uniparental disomy, paternal, chromosome 14 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients