Brachydactyly, Type B2 malady
Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Cancer diseases
Aliases & Descriptions for Brachydactyly, Type B2:
Orphanet epidemiological data:53
brachydactyly type b2:
Inheritance: Autosomal dominant
brachydactyly, type b2:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases, Cancer diseases
Anatomical: Bone diseases
OMIM:51 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in... (611377) more...
MalaCards based summary: Brachydactyly, Type B2, is also known as brachydactyly b2, and has symptoms including brachydactyly syndrome, anonychia and short toe. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin). Affiliated tissues include bone.
UniProtKB/Swiss-Prot:69 Brachydactyly B2: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.
Human phenotypes related to Brachydactyly, Type B2:63 53 (show all 27)
MalaCards organs/tissues related to Brachydactyly, Type B2:35
UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type B2:69
Clinvar genetic disease variations for Brachydactyly, Type B2:5
Search GEO for disease gene expression data for Brachydactyly, Type B2.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet