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Aplasia/Hypoplasia of the colon
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HP_0100811 |
[Congenital absence or underdevelopment of the colon.] |
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Intestinal hypoplasia
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HP_0005245 |
[Developmental hypoplasia of the intestine.] |
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Blue nevus
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HP_0100814 |
[A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.] |
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Testicular torsion
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HP_0100813 |
[Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.] |
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Lip hyperpigmentation
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HP_0100816 |
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Irregular hyperpigmentation
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HP_0007400 |
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Abnormal lip pigmentation
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HP_0032453 |
[Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.] |
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Long thorax
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HP_0100818 |
[Increased inferior to superior extent of the thorax.] |
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Enlarged thorax
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HP_0100625 |
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Renovascular hypertension
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HP_0100817 |
[The presence of hypertension related to stenosis of the renal artery.] |
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Abnormal renal physiology
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HP_0012211 |
[An abnormal functionality of the kidney.] |
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Intestinal fistula
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HP_0100819 |
[An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.] |
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Progressive spastic quadriplegia
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HP_0002478 |
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Progressive spasticity
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HP_0002191 |
[Spasticity that increases in degree with time.] |
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Myelomeningocele
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HP_0002475 |
[Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.] |
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Expressive language delay
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HP_0002474 |
[A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.] |
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Delayed speech and language development
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HP_0000750 |
[A degree of language development that is significantly below the norm for a child of a specified age.] |
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Primitive reflex
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HP_0002476 |
[The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.] |
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Abnormal reflex
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HP_0031826 |
[Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).] |
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Nonprogressive cerebellar ataxia
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HP_0002470 |
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