Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities

Preferred Label : Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities;

Symbol : SAMS;

CISMeF acronym : SAMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the goosecoid homeobox gene (GSC, 138890.0001);

Prefixed ID : #602471;

Details

Origin ID

602471;

UMLS CUI

C1865361;

Automatic exact mappings (from CISMeF team)
- Doxorubicin/Semustine/Streptozocin Regimen [NCIt concept]
- Methicillin susceptible Staphylococcus aureus (organism) [SNOMED CT concept]
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]
- Systolic anterior movement of mitral valve (disorder) [SNOMED CT concept]
- methionine adenosyltransferase 1A [ORDO Gene]
- methionine adenosyltransferase 1A [HGNC gene]
- superior mesenteric artery syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [MeSH Supplementary Concept]
- short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [MeSH concept]
Genes related to phenotype
- Goosecoid homeobox [OMIM gene]
HPO term(s)
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral humeral hypoplasia [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed ossification of pubic rami [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypotelorism [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Preauricular pit [HPO term]
- Rhizomelia [HPO term]
- Scapulohumeral synostosis [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]
- short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [MeSH Supplementary Concept]
- short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients