Diets-jongmans syndrome

Preferred Label : Diets-jongmans syndrome;

Symbol : DIJOS;

CISMeF acronym : DIJOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with distinctive facial dysmorphism; IDDFD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific demethylase 3B gene (KDM3B, 609373.0001);

Prefixed ID : #618846;

Details

Origin ID

618846;

UMLS CUI

C5394263;

Automatic exact mappings (from CISMeF team)
- KDM3B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome [ORDO Disease]
Genes related to phenotype
- Lysine demethylase 3b [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breech presentation [HPO term]
- Broad nasal tip [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Duodenal atresia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Hearing impairment [HPO term]
- Heterotaxy [HPO term]
- Hip dysplasia [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Interrupted inferior vena cava with azygous continuation [HPO term]
- Joint hypermobility [HPO term]
- Long ear [HPO term]
- Low hanging columella [HPO term]
- Motor delay [HPO term]
- Pointed chin [HPO term]
- Polyhydramnios [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Thick corpus callosum [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients