Meier-gorlin syndrome 7

Preferred Label : Meier-gorlin syndrome 7;

Symbol : MGORS7;

CISMeF acronym : MGORS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cell division cycle 45, S. cerevisiae, homolog-like gene (CDC45L, 603465.0001);

Prefixed ID : #617063;

Details

Origin ID

617063;

UMLS CUI

C4310738;

Automatic exact mappings (from CISMeF team)
- CDC45 wt Allele [NCIt concept]
- Meier-Gorlin syndrome 7 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 7 [DO Concept]
Genes related to phenotype
- Cell division cycle 45 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the legs [HPO term]
- Chiari type I malformation [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Clitoral hypertrophy [HPO term]
- Clubbing [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Duodenal stenosis [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hypospadias [HPO term]
- Joint laxity [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Preaxial polydactyly [HPO term]
- Progressive microcephaly [HPO term]
- Proptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thin eyebrow [HPO term]
- Urethral stricture [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Ear-patella-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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