All terms in HP

Label Id Description
Joint contracture of the hand HP_0009473 [Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.]
Upper-limb joint contracture HP_0100360 [A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.]
Abnormality of upper limb joint HP_0009810
Aplasia/Hypoplasia of the ovary HP_0010462 [Aplasia or developmental hypoplasia of the ovary.]
Aplasia of the ovary HP_0010463 [Aplasia, that is failure to develop, of the ovary.]
Angiokeratoma circumscriptum naeviforme HP_0034410 [A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present as multiple reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.]
Angiokeratoma HP_0001014 [Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.]
Angiokeratoma of Mibelli HP_0034411 [A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter.]
Proximal/middle symphalangism of 4th finger HP_0009477 [Fusion of the proximal and middle phalanges of the 4th finger.]
Symphalangism affecting the proximal phalanx of the 4th finger HP_0009314 [Fusion of the proximal phalanx of the 4th finger with another bone.]
Symphalangism of middle phalanx of 4th finger HP_0009308 [Fusion of the middle phalanx of the 4th finger with another bone.]
Laryngeal mass HP_0034412 [A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.]
Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal HP_0009478 [Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.]
Palate mass HP_0034413 [A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.]
Streak ovary HP_0010464 [A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.]
Hypoplasia of the ovary HP_0008724 [Developmental hypoplasia of the ovary.]
Precocious puberty in females HP_0010465 [The onset of puberty before the age of 8 years in girls.]
Thick oral frenulum HP_0034414 [Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.]
Abnormal phytanic acid:pristanic acid ratio HP_0034448 [Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.]
Abnormal circulating long-chain fatty-acid concentration HP_0010964 [Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.]