arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies

Preferred Label : arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies;

Origin ID

C535385;

UMLS CUI

C1859724;

Automatic exact mappings (from CISMeF team)
- Schaaf-yang syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [OMIM Phenotype]
Has phenotype(s) (HPO)
- Chubby cheeks [HPO term]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- hypopituitarism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [OMIM Phenotype]