| HPO |
HP:0003173 |
Hypoplastic pubic bone |
"Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [HPO:probinson] |
— |
HP:0009104 |
| HPO |
HP:0003174 |
Abnormality of the ischium |
"An anomaly of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] |
The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). |
HP:0003272 |
| HPO |
HP:0003175 |
Hypoplastic ischia |
"Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] |
— |
HP:0003174 |
| HPO |
HP:0003177 |
Squared iliac bones |
"A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [HPO:probinson] |
— |
HP:0002867 |
| HPO |
HP:0003179 |
Protrusio acetabuli |
"Intrapelvic bulging of the medial acetabular wall." [HPO:probinson] |
Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. |
HP:0003170 |
| HPO |
HP:0003180 |
Flat acetabular roof |
"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [HPO:probinson] |
— |
HP:0003170 |
| HPO |
HP:0003182 |
Shallow acetabular fossae |
— |
— |
HP:0003170 |
| HPO |
HP:0003183 |
Wide pubic symphysis |
"Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:probinson] |
— |
HP:0003172 |
| HPO |
HP:0003184 |
Decreased hip abduction |
"Reduced ability to move the femur outward to the side." [HPO:probinson] |
— |
HP:0008800 |
| HPO |
HP:0003185 |
Short greater sciatic notch |
"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [HPO:probinson] |
— |
HP:0010456 |
| HPO |
HP:0003186 |
Inverted nipples |
"The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] |
— |
HP:0004404 |
| HPO |
HP:0003187 |
Breast hypoplasia |
"Underdevelopment of the breast." [HPO:probinson] |
— |
HP:0010311 |
| HPO |
HP:0003189 |
Long nose |
"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [PMID:19152422] |
— |
HP:0005105 |
| HPO |
HP:0003191 |
Cleft ala nasi |
"The presence of a notch in the margin of the ala nasi." [HPO:probinson, PMID:19152422] |
The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. |
HP:0000429 |
| HPO |
HP:0003193 |
Allergic rhinitis |
"It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200] |
— |
HP:0012384, HP:0012393 |
| HPO |
HP:0003194 |
Short nasal bridge |
"Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose." [] |
— |
HP:0000422 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0003198 |
Myopathy |
"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] |
The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. |
HP:0011805 |
| HPO |
HP:0003199 |
Decreased muscle mass |
— |
— |
HP:0011805 |
| HPO |
HP:0003200 |
Ragged-red muscle fibers |
"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [HPO:probinson, PMID:12075011, PMID:16537564] |
This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). |
HP:0004303 |
| HPO |
HP:0003201 |
Rhabdomyolysis |
"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [HPO:probinson] |
— |
HP:0011805 |
| HPO |
HP:0003202 |
Skeletal muscle atrophy |
"The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] |
— |
HP:0030236 |
| HPO |
HP:0003203 |
Impaired oxidative burst |
"In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria." [HPO:probinson] |
The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. |
HP:0011993 |
| HPO |
HP:0003204 |
Intracellular accumulation of autofluorescent lipopigment storage material |
"The intracellular accumulation of autofluorescent storage material." [HPO:probinson, PMID:16455164] |
Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. |
HP:0011017 |
| HPO |
HP:0003205 |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
"An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [HPO:probinson] |
— |
HP:0003204 |