Acrofacial dysostosis syndrome of rodriguez

Preferred Label : Acrofacial dysostosis syndrome of rodriguez;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Rodriguez lethal acrofacial dysostosis syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %201170;

Details

Origin ID

201170;

UMLS CUI

C1860119;

Automatic exact mappings (from CISMeF team)
- Acrofacial dysostosis, Rodriguez type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Acrofacial dysostosis Rodriguez type [MeSH concept]
- Acrofacial dysostosis Rodriguez type (disorder) [SNOMED CT concept]
- Acrofacial dysostosis, Rodríguez type [ORDO Disease]
- acrofacial dysostosis Rodriguez type [DO Concept]
- acrofacial dysostosis rodriguez type [MeSH Supplementary Concept]
DO Cross reference
- acrofacial dysostosis Rodriguez type [DO Concept]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Absent forearm [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Deep-set nails [HPO term]
- Deeply set eye [HPO term]
- Fibular hypoplasia [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Oligodactyly [HPO term]
- Overlapping toe [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nose [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Single transverse palmar crease [HPO term]
- Talipes equinovarus [HPO term]
- Thin skin [HPO term]
- Triphalangeal thumb [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Acrofacial dysostosis, Rodríguez type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofacial dysostosis Rodriguez type [MeSH concept]
- Acrofacial dysostosis Rodriguez type (disorder) [SNOMED CT concept]
- Acrofacial dysostosis, Rodríguez type [ORDO Disease]
- acrofacial dysostosis Rodriguez type [DO Concept]
- acrofacial dysostosis rodriguez type [MeSH Supplementary Concept]

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