Gaze palsy, familial horizontal, with progressive scoliosis 1

Preferred Label : Gaze palsy, familial horizontal, with progressive scoliosis 1;

Symbol : HGPPS1;

CISMeF acronym : HGPPS; HGPPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HGPPS;

Included titles and symbols : Ophthalmoplegia, progressive external, and scoliosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in roundabout guidance receptor 3 gene (ROBO3, 608630.0001);

Prefixed ID : #607313;

Details

Origin ID

607313;

UMLS CUI

C4551964;

Automatic exact mappings (from CISMeF team)
- Horizontal gaze palsy with progressive scoliosis [ICD-11 More detail]
- ROBO3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
- Horizontal gaze palsy with progressive scoliosis (disorder) [SNOMED CT concept]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH concept]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH Supplementary Concept]
Genes related to phenotype
- Roundabout guidance receptor 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Horizontal supranuclear gaze palsy [HPO term]
- Hypoplasia of the pons [HPO term]
- Progressive ophthalmoplegia [HPO term]
- Thoracolumbar scoliosis [HPO term]
ORDO concept(s)
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
- Horizontal gaze palsy with progressive scoliosis (disorder) [SNOMED CT concept]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH concept]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH Supplementary Concept]

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