Singleton-merten syndrome 1

Preferred Label : Singleton-merten syndrome 1;

Symbol : SGMRT1;

CISMeF acronym : SGMRT1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon induced with helicase C domain 1 gene (IFIH1, 606951.0009);

Prefixed ID : #182250;

Details

Origin ID

182250;

UMLS CUI

C4225427;

Automatic exact mappings (from CISMeF team)
- Singleton-Merten dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Singleton Merten syndrome [MeSH concept]
- Singleton-Merten dysplasia [ORDO Disease]
- Singleton-Merten syndrome (disorder) [SNOMED CT concept]
- singleton merten syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Interferon-induced helicase C domain-containing protein 1 [OMIM gene]
HPO term(s)
- Aortic arch calcification [HPO term]
- Aortic valve calcification [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Cardiomegaly [HPO term]
- Carious teeth [HPO term]
- Congestive heart failure [HPO term]
- Coxa valga [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased body weight [HPO term]
- Eruption failure [HPO term]
- Expanded metacarpals with widened medullary cavities [HPO term]
- Expanded metatarsals with widened medullary cavities [HPO term]
- Expanded phalanges with widened medullary cavities [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Glaucoma [HPO term]
- Height less than 3rd percentile [HPO term]
- High anterior hairline [HPO term]
- Hip dislocation [HPO term]
- Hip subluxation [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the tooth germ [HPO term]
- Hypoplastic distal radial epiphyses [HPO term]
- Hypotonia [HPO term]
- Mitral valve calcification [HPO term]
- Muscle fiber atrophy [HPO term]
- Muscle weakness [HPO term]
- Myopia [HPO term]
- Onycholysis [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Osteoporosis [HPO term]
- Pes cavus [HPO term]
- Recurrent respiratory infections [HPO term]
- Shallow acetabular fossae [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Talipes equinovarus [HPO term]
- Tendon rupture [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Singleton-Merten dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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