Myotubular myopathy with abnormal genital development

Preferred Label : Myotubular myopathy with abnormal genital development;

Type : Phenotype, molecular basis known;

Prefixed ID : #300219;

Details

Origin ID

300219;

UMLS CUI

C1846169;

CISMeF manual mappings
- X-linked myotubular myopathy-abnormal genitalia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- myotubular myopathy with abnormal genital development [MeSH concept]
- myotubular myopathy with abnormal genital development [MeSH Supplementary Concept]
HPO term(s)
- Ambiguous genitalia, male [HPO term]
- Atelectasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bilateral cryptorchidism [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Generalized hypotonia [HPO term]
- Glandular hypospadias [HPO term]
- High palate [HPO term]
- Hyporeflexia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Joint hypermobility [HPO term]
- Micropenis [HPO term]
- Myopathy [HPO term]
- Neonatal death [HPO term]
- Penile hypospadias [HPO term]
- Polyhydramnios [HPO term]
- Respiratory distress [HPO term]
- Retrognathia [HPO term]
- Thin ribs [HPO term]
- Unilateral cryptorchidism [HPO term]
ORDO concept(s)
- X-linked myotubular myopathy-abnormal genitalia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- X-linked myotubular myopathy-abnormal genitalia syndrome [ORDO Disease]
- myotubular myopathy with abnormal genital development [MeSH Supplementary Concept]
- myotubular myopathy with abnormal genital development [MeSH concept]

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