Phenotypes associated with the disease angioosteohypertrophic syndrome (OMIM:149000):
- Abnormality of blood and blood-forming tissues (HP:0001871): An abnormality of the hematopoietic system. Evidence: IEA. (OMIM:149000)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:149000)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: IEA. (OMIM:149000)
- Macrodactyly (HP:0004099): Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. Evidence: IEA. (OMIM:149000)
- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: IEA. (OMIM:149000)
- Lymphangioma (HP:0100764): Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. Evidence: TAS. (OMIM:149000)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: IEA. (OMIM:149000)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: IEA. (OMIM:149000)
- Hyperpigmented nevi and streak (HP:0005606). Evidence: IEA. (OMIM:149000)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:149000)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:149000)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: IEA. (OMIM:149000)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:149000)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:149000)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: IEA. (OMIM:149000)