pili torti developmental delay neurological abnormalities

Preferred Label : pili torti developmental delay neurological abnormalities;

MeSH synonym : pili torti and developmental delay;

Origin ID

C537398;

UMLS CUI

C1849811;

Currated CISMeF NLP mapping
- Abnormal hair, joint laxity, and developmental delay [OMIM Phenotype]
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- growth disorders [MeSH Descriptor]
- hair diseases [MeSH Descriptor]
ORDO relation(s)
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]
Record concept(s)
- Pili torti developmental delay neurological abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abnormal hair, joint laxity, and developmental delay [OMIM Phenotype]
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]