Congenital myopathy 17

Preferred Label : Congenital myopathy 17;

Symbol : CMYO17;

CISMeF acronym : MYODRIF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, congenital, due to myod1 deficiency; Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies; MYODRIF;

Prefixed ID : #618975;

Details

Origin ID

618975;

UMLS CUI

C5436530;

Automatic exact mappings (from CISMeF team)
- MYOD1 wt Allele [NCIt concept]
Genes related to phenotype
- Myogenic differentiation antigen 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cystic hygroma [HPO term]
- Dental malocclusion [HPO term]
- Diaphragmatic eventration [HPO term]
- Distal arthrogryposis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Esotropia [HPO term]
- Failure to thrive in infancy [HPO term]
- Fetal akinesia sequence [HPO term]
- Generalized hypotonia [HPO term]
- Hand clenching [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Narrow jaw [HPO term]
- Overlapping fingers [HPO term]
- Overlapping toe [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal hypoplasia [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory tract infection [HPO term]
- Short chin [HPO term]
- Smooth philtrum [HPO term]
- Tapered finger [HPO term]
- Telecanthus [HPO term]
- Tented upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ureteropelvic junction obstruction [HPO term]
ORDO concept(s)
- Fetal akinesia deformation sequence [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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