Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Preferred Label : Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome;

Symbol : OORS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oors syndrome; Glycosylphosphatidylinositol biosynthesis defect 24; GPIBD24;

Prefixed ID : #619356;

Details

Origin ID

619356;

UMLS CUI

C5543496;

Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class f protein [OMIM gene]
HPO term(s)
- Abnormality of alkaline phosphatase level [HPO term]
- Absent fifth toenail [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral triphalangeal thumbs [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Global developmental delay [HPO term]
- Head-banging [HPO term]
- Hypoplastic fifth fingernail [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic thumbnail [HPO term]
- Hypoplastic toenails [HPO term]
- Impaired toileting ability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Open mouth [HPO term]
- Poor head control [HPO term]
- Precocious puberty [HPO term]
- Short distal phalanx of finger [HPO term]
- Short distal phalanx of toe [HPO term]
- Short nose [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients