Robin sequence with cleft mandible and limb anomalies

Preferred Label : Robin sequence with cleft mandible and limb anomalies;

CISMeF acronym : RCPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RCPS; Richieri-costa-pereira syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 4A, isoform 3, gene (EIF4A3, 608546.0001);

Prefixed ID : #268305;

Détails

Origin ID

268305;

UMLS CUI

C1849348;

Automatic exact mappings (from CISMeF team)
- advanced cardiac life support [MeSH Descriptor]
Currated CISMeF NLP mapping
- Richieri Costa Pereira syndrome [MeSH concept]
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) [SNOMED CT concept]
- richieri costa pereira syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Eukaryotic translation initiation factor 4a, isoform 3 [OMIM gene]
HPO term(s)
- Abnormal aryepiglottic fold morphology [HPO term]
- Abnormality of the voice [HPO term]
- Acetabular dysplasia [HPO term]
- Agenesis of mandibular central incisor [HPO term]
- Aplasia of the epiglottis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Cleft lower alveolar ridge [HPO term]
- Cleft mandible [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Feeding difficulties [HPO term]
- Fibular hypoplasia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hip subluxation [HPO term]
- Hypoplasia of the radius [HPO term]
- Low-set ears [HPO term]
- Mesomelia [HPO term]
- Microretrognathia [HPO term]
- Narrow mouth [HPO term]
- Pierre-Robin sequence [HPO term]
- Prominent ears [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Proximal placement of thumb [HPO term]
- Radial deviation of the hand [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Short tibia [HPO term]
- Talipes equinovarus [HPO term]
- Tibial deviation of toes [HPO term]
ORDO concept(s)
- Richieri Costa-Pereira syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Richieri Costa Pereira syndrome [MeSH concept]
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) [SNOMED CT concept]
- richieri costa pereira syndrome [MeSH Supplementary Concept]

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

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