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Items: 4

1.

Brachydactyly type A1D

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. [from MONDO]

MedGen UID:
903193
Concept ID:
C4225183
Disease or Syndrome
2.

Mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). [from OMIM]

MedGen UID:
324459
Concept ID:
C1836206
Disease or Syndrome
3.

Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

MedGen UID:
396303
Concept ID:
C1862144
Finding
4.

Type A2 brachydactyly

Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011). [from OMIM]

MedGen UID:
318690
Concept ID:
C1832702
Congenital Abnormality
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