Version: 8.0.0Date: Tue Jan 28 2025
Disease
Source: DOID:0080051
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Alleles: Gdf5
Source: DOID:0060931
Definition: A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Source: DOID:0081318
Definition: A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Disease
Source: DOID:0110964
Definition: A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...gdf5.L (Xla)...Gdf5 (Rno)
Disease
Source: DOID:0110977
Definition: A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Alleles: Gdf5
Source: DOID:0050790
Definition: An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Alleles: Gdf5
Source: DOID:0081317
Definition: A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Disease
Source: DOID:0050794
Definition: A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.
Genes: gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)...gdf5 (Dre)
Alleles: Gdf5
Disease
Source: DOID:0080788
Definition: A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Source: DOID:0080052
Definition: An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Alleles: Gdf5
Disease
Source: DOID:0110970
Definition: A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Genes: gdf5.S (Xla)...gdf5 (Xtr)...Gdf5 (Mmu)...Gdf5 (Rno)...GDF5 (Hsa)
Alleles: Gdf5
Disease
Source: DOID:0110965
Definition: A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
Genes: gdf5.S (Xla)...Gdf5 (Mmu)...GDF5 (Hsa)...gdf5 (Dre)...gdf5 (Xtr)
Alleles: Gdf5
Disease
Source: DOID:8398
Definition: An arthritis that has_material_basis_in worn out cartilage located_in joint.
Genes: gdf5.S (Xla)...GDF5 (Hsa)...Gdf5 (Rno)...Gdf5 (Mmu)...gdf5 (Dre)
Alleles: Gdf5
Disease
Source: DOID:14330
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Genes: gdf5.S (Xla)...Gdf5 (Mmu)...gdf5 (Dre)...gdf5 (Xtr)...Gdf5 (Rno)