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brachydactyly type E2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
Uniprot Description A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges.
Disease Ontology Description A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
Mondo Term and Equivalent IDs
MONDO:0013244:  brachydactyly type E2
UMLS:C3150644: