Adducted thumbs syndrome

Preferred Label : Adducted thumbs syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %201550;

Details

Origin ID

201550;

UMLS CUI

C0431886;

Currated CISMeF NLP mapping
- Adducted thumbs-arthrogryposis syndrome, Christian type [ORDO Disease]
- adducted thumbs syndrome [MeSH concept]
- adducted thumbs syndrome [MeSH Supplementary Concept]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral dysmyelination [HPO term]
- Cleft palate [HPO term]
- Craniostenosis [HPO term]
- Craniosynostosis [HPO term]
- Dysphagia [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hypertrichosis [HPO term]
- Microcephaly [HPO term]
- Myelin-dependent gliosis [HPO term]
- Myopathic facies [HPO term]
- Myopathy [HPO term]
- Respiratory insufficiency [HPO term]
- Velopharyngeal insufficiency [HPO term]
ORDO concept(s)
- Adducted thumbs-arthrogryposis syndrome, Christian type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Adducted thumb [HPO term]
- Adducted thumbs-arthrogryposis syndrome, Christian type [ORDO Disease]
- Congenital clasped thumb [MedDRA Preferred Term]
- Thumb in palm deformity (disorder) [SNOMED CT concept]
- adducted thumbs syndrome [MeSH Supplementary Concept]
- adducted thumbs syndrome [MeSH concept]

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