Vacterl association, X-linked, with or without hydrocephalus

Preferred Label : Vacterl association, X-linked, with or without hydrocephalus;

Symbol : VACTERLX;

CISMeF acronym : VACTERLX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vacterl-h, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the zic family member-3 gene (ZIC3, 300265.0010);

Prefixed ID : #314390;

Details

Origin ID

314390;

UMLS CUI

C2931228;

Automatic exact mappings (from CISMeF team)
- VACTERL with hydrocephalus [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked VACTERL association [DO Concept]
DO Cross reference
- X-linked VACTERL association [DO Concept]
Genes related to phenotype
- Zic family, member 3 [OMIM gene]
HPO term(s)
- Abnormal cardiovascular system morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Absence of stomach bubble on fetal sonography [HPO term]
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Atrioventricular canal defect [HPO term]
- Dextrocardia [HPO term]
- Enlarged kidney [HPO term]
- Esophageal atresia [HPO term]
- Hand polydactyly [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Isomerism [HPO term]
- Laryngeal atresia [HPO term]
- Neonatal death [HPO term]
- Persistent left superior vena cava [HPO term]
- Polyhydramnios [HPO term]
- Proximal placement of thumb [HPO term]
- Pulmonary hypoplasia [HPO term]
- Sacral dimple [HPO term]
- Short humerus [HPO term]
- Third trimester onset [HPO term]
- Tracheoesophageal fistula [HPO term]
- Transposition of the great arteries [HPO term]
- Urethral atresia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- VACTERL with hydrocephalus [ORDO Disease]
Related ORDO disease(s)
- VACTERL with hydrocephalus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- VACTERL association with hydrocephalus [MeSH Supplementary Concept]

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