Ramos-arroyo syndrome

Preferred Label : Ramos-arroyo syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation;

Inheritance : Autosomal dominant;

Prefixed ID : 122430;

Details

Origin ID

122430;

UMLS CUI

C2930866;

Currated CISMeF NLP mapping
- Ramos Arroyo Clark syndrome [MeSH concept]
- Ramos Arroyo syndrome (disorder) [SNOMED CT concept]
- Ramos-Arroyo syndrome [ORDO Disease]
- ramos arroyo clark syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Absent retinal pigment epithelium [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad eyebrow [HPO term]
- Decreased corneal sensation [HPO term]
- Depressed nasal bridge [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Patent ductus arteriosus [HPO term]
- Reduced visual acuity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Upslanted palpebral fissure [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Ramos-Arroyo syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ramos Arroyo Clark syndrome [MeSH concept]
- Ramos Arroyo syndrome (disorder) [SNOMED CT concept]
- Ramos-Arroyo syndrome [ORDO Disease]
- ramos arroyo clark syndrome [MeSH Supplementary Concept]

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