Lethal congenital contracture syndrome 10

Preferred Label : Lethal congenital contracture syndrome 10;

Symbol : LCCS10;

CISMeF acronym : LCCS10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the never in mitosis gene A-related kinase-9 gene (NEK9, 609798.0001);

Prefixed ID : #617022;

Details

Origin ID

617022;

UMLS CUI

C5568141;

Currated CISMeF NLP mapping
- NEK9-related lethal skeletal dysplasia [ORDO Disease]
- NIMA related kinase 9 lethal skeletal dysplasia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nima-related kinase 9 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad ribs [HPO term]
- Cardiomegaly [HPO term]
- Fetal akinesia sequence [HPO term]
- High palate [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplasia of the thymus [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Narrow chest [HPO term]
- Narrow palate [HPO term]
- Oligohydramnios [HPO term]
- Omphalocele [HPO term]
- Overlapping fingers [HPO term]
- Overriding aorta [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short neck [HPO term]
- Stiff neck [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic scoliosis [HPO term]
- Torticollis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- NEK9-related lethal skeletal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NIMA related kinase 9 lethal skeletal dysplasia (disorder) [SNOMED CT concept]

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