Cornelia de lange syndrome 3 with or without midline brain defects

Preferred Label : Cornelia de lange syndrome 3 with or without midline brain defects;

Symbol : CDLS3;

CISMeF acronym : CDLS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the structural maintenance of chromosomes 3 gene (SMC3, 606062.0001);

Prefixed ID : #610759;

Details

Origin ID

610759;

UMLS CUI

C1853099;

Automatic exact mappings (from CISMeF team)
- SMC3 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Cornelia de Lange syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cornelia de Lange syndrome 3 [DO Concept]
- Cornelia de Lange syndrome 3 [MeSH concept]
DO Cross reference
- Cornelia de Lange syndrome 3 [DO Concept]
Genes related to phenotype
- Structural maintenance of chromosomes 3 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cognitive impairment [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hooded eyelid [HPO term]
- Hydroureter [HPO term]
- Intellectual disability [HPO term]
- Laterally extended eyebrow [HPO term]
- Limited elbow movement [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Nevus flammeus [HPO term]
- Patent ductus arteriosus [HPO term]
- Plagiocephaly [HPO term]
- Poor speech [HPO term]
- Posteriorly rotated ears [HPO term]
- Primary microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short 5th finger [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick hair [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Cornelia de Lange syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cornelia de Lange syndrome 3 [MeSH concept]
Validated automatic mappings to NTBT
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ORDO Disease]
- de lange syndrome [MeSH Descriptor]

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