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Items: 3

1.

Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001). [from OMIM]

MedGen UID:
208653
Concept ID:
C0795998
Disease or Syndrome
2.

Broad distal phalanx of the hallux

An increase in width of the distal phalanx of the big toe. [from HPO]

MedGen UID:
869640
Concept ID:
C4024068
Anatomical Abnormality
3.

Brachydactyly type D

Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003). [from OMIM]

MedGen UID:
66313
Concept ID:
C0220664
Congenital Abnormality

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