Meier-gorlin syndrome 2

Preferred Label : Meier-gorlin syndrome 2;

Symbol : MGORS2;

CISMeF acronym : MGORS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the origin recognition complex, subunit 4, gene (ORC4, 603056.0001);

Prefixed ID : #613800;

Details

Origin ID

613800;

UMLS CUI

C3151097;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 2 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 2 [DO Concept]
Genes related to phenotype
- Origin recognition complex, subunit 4 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Breast hypoplasia [HPO term]
- Bronchomalacia [HPO term]
- Camptodactyly [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital onset [HPO term]
- Delayed skeletal maturation [HPO term]
- Dolichocephaly [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- High pitched voice [HPO term]
- Hypoplastic labia majora [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Labial hypoplasia [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]
- Smooth philtrum [HPO term]
- Tracheomalacia [HPO term]
- Underdeveloped nasal alae [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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