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

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0529846;

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]
Related record
- arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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