Phenotypes associated with the disease osteogenesis imperfecta, type 18 (OMIM:617952, an entry in Online Mendelian Inheritance in Man):
- Abnormality of the dentition (HP:0000164, a Human Phenotype Ontology term): Any abnormality of the teeth. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:617952)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 4/4. (PMID:29358272)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: IEA. (OMIM:617952)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:617952)
- Biconcave vertebral bodies (HP:0004586, a Human Phenotype Ontology term): Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Evidence: PCS. (PMID:29358272)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 20/20. (OMIM:617952;PMID:29358272)
- Blue sclerae (HP:0000592, a Human Phenotype Ontology term): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:29358272)
- Generalized osteoporosis (HP:0040160, a Human Phenotype Ontology term). Evidence: PCS. (PMID:29358272)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:617952)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:29358272)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:29358272)
- Broad forehead (HP:0000337, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. (PMID:29358272)
- Recurrent fractures (HP:0002757, a Human Phenotype Ontology term): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:29358272)
- Bowing of the long bones (HP:0006487, a Human Phenotype Ontology term): A bending or abnormal curvature of a long bone. Evidence: PCS. (PMID:29358272)
- Long eyelashes (HP:0000527, a Human Phenotype Ontology term): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: IEA. (OMIM:617952)
- Wormian bones (HP:0002645, a Human Phenotype Ontology term): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: PCS. Frequency: 3/4. (PMID:29358272)
- Vertebral compression fracture (HP:0002953, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:617952)
- Thin ribs (HP:0000883, a Human Phenotype Ontology term): Ribs with a reduced diameter. Evidence: PCS. (PMID:29358272)
- Thin bony cortex (HP:0002753, a Human Phenotype Ontology term): Abnormal thinning of the cortical region of bones. Evidence: PCS. (PMID:29358272)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:617952)