spastic paraplegia neuropathy poikiloderma

Preferred Label : spastic paraplegia neuropathy poikiloderma;

MeSH synonym : familial spastic paraplegia with neuropathy and poikiloderma; spastic paraplegia with neuropathy and poikiloderma;

Is substance : O;

Details

Origin ID

C536870;

UMLS CUI

C1866851;

Currated CISMeF NLP mapping
- Spastic paraplegia with neuropathy and poikiloderma [OMIM Phenotype]
- Spastic paraplegia-neuropathy-poikiloderma syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Motor and sensory neuropathy [HPO term]
- loss of eyebrows and eyelashes by age 3 years [HPO term]
MeSH term(s) associated for indexing
- rothmund-thomson syndrome [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
ORDO relation(s)
- Spastic paraplegia-neuropathy-poikiloderma syndrome [ORDO Disease]
Record concept(s)
- Spastic paraplegia neuropathy poikiloderma [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia with neuropathy and poikiloderma [OMIM Phenotype]
- Spastic paraplegia-neuropathy-poikiloderma syndrome [ORDO Disease]

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