Meier-gorlin syndrome 4

Preferred Label : Meier-gorlin syndrome 4;

Symbol : MGORS4;

CISMeF acronym : MGORS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromatin licensing and DNA replication factor 1 gene (CDT1, 605525.0001);

Prefixed ID : #613804;

Details

Origin ID

613804;

UMLS CUI

C3151120;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 4 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 4 [DO Concept]
Genes related to phenotype
- Chromatin licensing and dna replication factor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Breast hypoplasia [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Emphysema [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Genu recurvatum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Lateral clavicle hook [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Patellar aplasia [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Ear-patella-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients