Rapadilino syndrome

Preferred Label : Rapadilino syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #266280;

Details

Origin ID

266280;

UMLS CUI

C1849453;

Automatic exact mappings (from CISMeF team)
- RAPADILINO syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- RAPADILINO syndrome [ORDO Disease]
- RAPADILINO syndrome (disorder) [SNOMED CT concept]
- Rapadilino syndrome [MeSH concept]
- rapadilino syndrome [DO Concept]
- rapadilino syndrome [MeSH Supplementary Concept]
DO Cross reference
- rapadilino syndrome [DO Concept]
Genes related to phenotype
- Recq protein-like 4 [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Aplasia/Hypoplasia of the radius [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cleft palate [HPO term]
- Diarrhea [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Joint dislocation [HPO term]
- Long face [HPO term]
- Mottled or stippled pigmentation [HPO term]
- Mottled pigmentation [HPO term]
- Narrow palpebral fissure [HPO term]
- Radial aplasia/hypoplasia [HPO term]
- Short chin [HPO term]
- Short stature [HPO term]
- Slender nose [HPO term]
- Stiff interphalangeal joints [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- RAPADILINO syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RAPADILINO syndrome [ORDO Disease]
- RAPADILINO syndrome (disorder) [SNOMED CT concept]
- Rapadilino syndrome [MeSH concept]
- Rapadilino syndrome [MedDRA Preferred Term]
- rapadilino syndrome [MeSH Supplementary Concept]
- rapadilino syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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