Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: bmp4.L (Xla)
Disease
Source: DOID:1612
Definition: An organ system cancer that originates in the mammary gland.
Genes: bmp4.L (Xla)
Disease
Source: DOID:10126
Definition: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Genes: bmp4.L (Xla)
Disease
Source: DOID:1909
Definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Genes: bmp4.L (Xla)
Disease
Source: DOID:9296
Definition: An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Genes: bmp4.L (Xla)
Disease
Source: DOID:1882
Definition: A heart septal defect located_in in the septum that separates the two atria of the heart.
Genes: bmp4.L (Xla)
Disease
Source: DOID:4448
Definition: A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Genes: bmp4.L (Xla)
Disease
Source: DOID:540
Definition: A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
Genes: bmp4.L (Xla)
Disease
Source: DOID:0080205
Definition: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
Genes: bmp4.L (Xla)
Disease
Source: DOID:0111805
Definition: A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.
Genes: bmp4.L (Xla)
Disease
Source: DOID:13515
Definition: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Genes: bmp4.L (Xla)
Disease
Source: DOID:9206
Definition: An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
Genes: bmp4.L (Xla)
Disease
Source: DOID:4450
Definition: A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
Genes: bmp4.L (Xla)
Disease
Source: DOID:10286
Definition: A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Genes: bmp4.L (Xla)
Disease
Source: DOID:0080207
Definition: A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.
Genes: bmp4.L (Xla)
Disease
Source: DOID:182
Definition: A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Genes: bmp4.L (Xla)
Disease
Source: DOID:12185
Definition: An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.
Genes: bmp4.L (Xla)
Disease
Source: DOID:0080404
Definition: An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.
Genes: bmp4.L (Xla)
Disease
Source: DOID:1222
Definition: A connective tissue disease that is located_in cartilage.
Genes: bmp4.L (Xla)
Source: DOID:0060887
Definition: A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.
Genes: bmp4.L (Xla)
Disease
Source: DOID:0050591
Definition: A tooth disease characterized by failure to develop one or more missing teeth.
Genes: bmp4.L (Xla)
Disease
Source: DOID:668
Definition: A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Genes: bmp4.L (Xla)
Source: DOID:0111535
Definition: A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
Genes: bmp4.L (Xla)