Congenital heart defects and skeletal malformations syndrome

Preferred Label : Congenital heart defects and skeletal malformations syndrome;

Symbol : CHDSKM;

CISMeF acronym : CHDSKM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ABL protooncogene 1, nonreceptor tyrosine kinase gene (ABL1, 189980.0007);

Prefixed ID : #617602;

Details

Origin ID

617602;

UMLS CUI

C4539857;

Automatic exact mappings (from CISMeF team)
- ABL1 wt Allele [NCIt concept]
Genes related to phenotype
- Abl protooncogene 1, nonreceptor tyrosine kinase [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Arachnodactyly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Camptodactyly [HPO term]
- Carious teeth [HPO term]
- Coarctation of aorta [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Deeply set eye [HPO term]
- Dental crowding [HPO term]
- Failure to thrive [HPO term]
- Finger clinodactyly [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypospadias [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Long nose [HPO term]
- Narrow maxilla [HPO term]
- Narrow nose [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pneumothorax [HPO term]
- Pointed chin [HPO term]
- Scoliosis [HPO term]
- Short chin [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Soft skin [HPO term]
- Thin skin [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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