- Macrodactyly of toe (HP:0100747): A type of Macrodactyly affecting one or several toes. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:295047)
- Enlarged epiphyses of the toes (HP:0010165). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:295047)
- Broad metatarsal (HP:0001783): Increased side-to-side width of a metatarsal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295047)
- Medial deviation of the foot (HP:0008082). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295047)
- Advanced tarsal ossification (HP:0008108): Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295047)
- Abnormal metatarsal ossification (HP:0008371): Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295047)
- Toe syndactyly (HP:0001770): Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295047)
- Flexion contracture of toe (HP:0005830): One or more bent (flexed) toe joints that cannot be straightened actively or passively. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295047)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Foot polydactyly (HP:0001829): A kind of polydactyly characterized by the presence of a supernumerary toe or toes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
- Lipoma (HP:0012032): Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:295047)
These phenotypes are associated with the disease Macrodactyly of toes (ORPHA:295047).