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Synostosis of carpals/tarsals
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HP_0100266 |
[The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.] |
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Abnormal carpal morphology
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HP_0001191 |
[An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).] |
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Dysplastic gangliocytoma of the cerebellum
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HP_0500009 |
[It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.] |
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Chronic CSF lymphocytosis
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HP_0009704 |
[Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.] |
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CSF lymphocytic pleiocytosis
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HP_0200149 |
[An increased lymphocyte count in the cerebrospinal fluid.] |
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Urethritis
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HP_0500006 |
[Inflammation of the urethra.] |
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Iris flocculi
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HP_0500007 |
[Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.] |
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2-4 finger cutaneous syndactyly
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HP_0010709 |
[A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints.] |
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1-4 finger cutaneous syndactyly
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HP_0010707 |
[A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints.] |
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1-5 finger cutaneous syndactyly
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HP_0010708 |
[A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand).] |
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Increased circulating immunoglobulin concentration
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HP_0010702 |
[An increased level of gamma globulin (immunoglobulin) in the blood.] |
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obsolete Total cataract
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HP_0010700 |
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4-5 finger cutaneous syndactyly
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HP_0010705 |
[A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints.] |
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1-3 finger cutaneous syndactyly
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HP_0010706 |
[A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints.] |
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1-2 finger cutaneous syndactyly
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HP_0010704 |
[A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints.] |
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Moon facies
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HP_0500011 |
[A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.] |
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Abnormal gonadotropin-releasing hormone concentration
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HP_0500012 |
[A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).] |
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Lack of gonadotropin-releasing hormone pulsatility
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HP_0500013 |
[Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.] |
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obsolete Abnormal test result
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HP_0500014 |
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Chilblains
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HP_0009710 |
[Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.] |