Meier-gorlin syndrome 6

Preferred Label : Meier-gorlin syndrome 6;

Symbol : MGORS6;

CISMeF acronym : MGORS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Geminin DNA replication inhibitor gene (GMNN, 602842.0001);

Prefixed ID : #616835;

Details

Origin ID

616835;

UMLS CUI

C4225188;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 6 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 6 [DO Concept]
Genes related to phenotype
- Geminin dna replication inhibitor [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed myelination [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Emphysema [HPO term]
- Entropion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- High forehead [HPO term]
- Hip dysplasia [HPO term]
- Hypoplastic labia majora [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Patellar aplasia [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent respiratory infections [HPO term]
- Sandal gap [HPO term]
- Severe short stature [HPO term]
- Short middle phalanx of finger [HPO term]
- Short nose [HPO term]
- Simplified gyral pattern [HPO term]
- Small for gestational age [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Strabismus [HPO term]
- Thick vermilion border [HPO term]
- Tracheobronchomalacia [HPO term]
- Umbilical hernia [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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