Faciocardiomelic syndrome

Preferred Label : Faciocardiomelic syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %612731;

Détails

Origin ID

612731;

UMLS CUI

C2674798;

Currated CISMeF NLP mapping
- faciocardiomelic syndrome [MeSH concept]
- faciocardiomelic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Common atrium [HPO term]
- Cuboid-shaped vertebral bodies [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dysharmonic bone age [HPO term]
- Exotropia [HPO term]
- Flattened nasal bridge [HPO term]
- Hyperplasia of the maxilla [HPO term]
- Hypoplastic pelvis [HPO term]
- Intellectual disability [HPO term]
- Large for gestational age [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow chest [HPO term]
- Osteopenia [HPO term]
- Polydactyly [HPO term]
- Ptosis [HPO term]
- Short eyelashes [HPO term]
- Slender long bone [HPO term]
- Telecanthus [HPO term]
- Thin bony cortex [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- faciocardiomelic syndrome [MeSH Supplementary Concept]
- faciocardiomelic syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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