Meier-gorlin syndrome 5

Preferred Label : Meier-gorlin syndrome 5;

Symbol : MGORS5;

CISMeF acronym : MGORS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cell division cycle 6 gene (CDC6, 602627.0001);

Prefixed ID : #613805;

Details

Origin ID

613805;

UMLS CUI

C3151126;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 5 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 5 [DO Concept]
Genes related to phenotype
- Cell division cycle 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Elbow dislocation [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular femoral epiphysis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Mild global developmental delay [HPO term]
- Patellar aplasia [HPO term]
- Prominent metopic ridge [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Small earlobe [HPO term]
- Submucous cleft hard palate [HPO term]
- Thick vermilion border [HPO term]
- Triangular face [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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