Meier-gorlin syndrome 3

Preferred Label : Meier-gorlin syndrome 3;

Symbol : MGORS3;

CISMeF acronym : MGORS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in origin recognition complex, subunit 6, gene (ORC6, 607213.0001);

Prefixed ID : #613803;

Details

Origin ID

613803;

UMLS CUI

C3151113;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 3 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 3 [DO Concept]
Genes related to phenotype
- Origin recognition complex, subunit 6 [OMIM gene]
HPO term(s)
- Absent sternal ossification [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Autosomal recessive inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Breast hypoplasia [HPO term]
- Bronchomalacia [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital onset [HPO term]
- Coxa vara [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dyspnea [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic labia minora [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microretrognathia [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Patellar aplasia [HPO term]
- Patellar hypoplasia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Recurrent pneumonia [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Slender long bone [HPO term]
- Small scrotum [HPO term]
- Sparse axillary hair [HPO term]
- Sparse pubic hair [HPO term]
- Talipes equinovarus [HPO term]
- Thick vermilion border [HPO term]
- Tracheomalacia [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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