Brachydactyly, Type B2 malady
Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Cancer diseases
Aliases & Descriptions for Brachydactyly, Type B2:
Orphanet epidemiological data:52
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:50 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:68 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.
Symptoms by clinical synopsis from OMIM:611377
Clinical features from OMIM:611377
Symptoms:52 (show all 9)
HPO human phenotypes related to Brachydactyly, Type B2:(show all 24)
MalaCards organs/tissues related to Brachydactyly, Type B2:34
UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type B2:68
Clinvar genetic disease variations for Brachydactyly, Type B2:5
Search GEO for disease gene expression data for Brachydactyly, Type B2.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet