|
Ataxia
|
HP_0001251 |
[Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).] |
|
Sclerotic vertebral body
|
HP_0100861 |
[Increase in bone density of the vertebral body.] |
|
Dilatation of Inferior mesenteric artery
|
HP_0100860 |
[Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .] |
|
Dilatation of mesenteric artery
|
HP_0011934 |
[Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .] |
|
Small cerebral cortex
|
HP_0002472 |
[Reduced size of the cerebral cortex.] |
|
Aplasia of the femoral neck
|
HP_0100863 |
|
|
Aplasia/Hypoplasia involving the femoral head and neck
|
HP_0009108 |
|
|
Aplasia of the femoral head
|
HP_0100862 |
|
|
Broad ischia
|
HP_0100865 |
[Increased width of the ischium, which forms the lower and back part of the hip bone.] |
|
Short femoral neck
|
HP_0100864 |
[An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).] |
|
Abnormal femoral neck morphology
|
HP_0003367 |
[An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).] |
|
Duodenal stenosis
|
HP_0100867 |
[The narrowing or partial blockage of a portion of the duodenum.] |
|
Small intestinal stenosis
|
HP_0012848 |
[The narrowing or partial blockage of a portion of the small intestine.] |
|
Short iliac bones
|
HP_0100866 |
[Underdevelopment of the iliac bones.] |
|
Hypoplastic ilia
|
HP_0000946 |
[Underdevelopment of the ilium.] |
|
Palmar telangiectasia
|
HP_0100869 |
[The presence of telangiectases on the skin of palm of hand.] |
|
Telangiectasia of the skin
|
HP_0100585 |
[Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.] |
|
Abnormal skin morphology of the palm
|
HP_0040211 |
[An abnormality of the skin of the palm, that is, the skin of the front of the hand.] |
|
Myotonia
|
HP_0002486 |
[An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.] |
|
Leukemia
|
HP_0001909 |
[A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.] |