gaze palsy, familial horizontal, with progressive scoliosis

Preferred Label : gaze palsy, familial horizontal, with progressive scoliosis;

MeSH note : mutation in ROBO3;

MeSH synonym : ophthalmoplegia, progressive external, and scoliosis; horizontal gaze palsy with progressive scoliosis; hgpps; familial idiopathic scoliosis associated with congenital encephalopathy; familial infantile scoliosis associated with bilateral paralysis of conjugate gaze; familial horizontal gaze palsy with progressive scoliosis; HGPPS, Horizontal Gaze Palsy with Progressive Scoliosis;

Details

Origin ID

C564593;

UMLS CUI

C4760875;

Currated CISMeF NLP mapping
- Gaze palsy, familial horizontal, with progressive scoliosis 1 [OMIM Phenotype]
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
- Horizontal gaze palsy with progressive scoliosis (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- Congenital Cranial Dysinnervation Disorders [MeSH Descriptor]
- ophthalmoplegia, chronic progressive external [MeSH Descriptor]
- scoliosis [MeSH Descriptor]
Record concept(s)
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gaze palsy, familial horizontal, with progressive scoliosis 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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