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

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

Obsolete resource : true;

Moved to : 615547;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 208080;

Details

Origin ID

208080;

UMLS CUI

C1859724;

Currated CISMeF NLP mapping
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH concept]
- arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH Supplementary Concept]
HPO term(s)
- Anterior hypopituitarism [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Chubby cheeks [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Distal arthrogryposis [HPO term]
- Full cheeks [HPO term]
- Hammertoe [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Micrognathia [HPO term]
- Square face [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH concept]
- arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH Supplementary Concept]

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