| HPO |
HP:0005918 |
Abnormal finger phalanx morphology |
"Abnormalities affecting the phalanx of finger." [HPO:probinson] |
This category is a supercategory for abnormalties affect phalanges of the hand. |
HP:0001167 |
| HPO |
HP:0005920 |
Abnormal epiphysis morphology of the phalanges of the hand |
"Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] |
— |
HP:0005918, HP:0005924 |
| HPO |
HP:0005921 |
obsolete Abnormal ossification of hand bones |
— |
— |
— |
| HPO |
HP:0005922 |
Abnormal hand morphology |
"Any structural anomaly of the hand." [HPO:probinson] |
This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. |
HP:0001155 |
| HPO |
HP:0005923 |
Abnormalities of the metaphyses of the hand |
— |
— |
HP:0001155, HP:0009809 |
| HPO |
HP:0005924 |
Abnormality of the epiphyses of the hand |
"Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators] |
— |
HP:0001155, HP:0003839 |
| HPO |
HP:0005925 |
Abnormalities of the diaphyses of the hand |
— |
— |
HP:0001155, HP:0009808 |
| HPO |
HP:0005926 |
Abnormality of hand cortical bone |
"An anomaly of the outer shell (cortex) of a hand bone." [] |
— |
HP:0001155, HP:0003103 |
| HPO |
HP:0005927 |
Aplasia/hypoplasia involving bones of the hand |
"Absence (due to failure to form) or underdevelopment of the bones of the hand." [HPO:probinson] |
— |
HP:0001155, HP:0006496 |
| HPO |
HP:0005928 |
Synostosis involving the fibula |
— |
— |
HP:0002991, HP:0009138 |
| HPO |
HP:0005929 |
Synostosis involving the tibia |
— |
— |
HP:0002992, HP:0009138 |
| HPO |
HP:0005930 |
Abnormality of epiphysis morphology |
"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0005932 |
Abnormal renal corticomedullary differentiation |
"An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [HPO:probinson] |
On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. |
HP:0011035, HP:0100957 |
| HPO |
HP:0005934 |
Imperfect vocal cord adduction |
— |
— |
HP:0031801 |
| HPO |
HP:0005938 |
Abnormal respiratory motile cilium morphology |
"Abnormal arrangement of the structures of the motile cilium." [HPO:probinson, MP:0011050] |
— |
HP:0012253 |
| HPO |
HP:0005939 |
Multiple bilateral pneumothoraces |
— |
— |
HP:0002107 |
| HPO |
HP:0005941 |
Intermittent hyperpnea at rest |
— |
— |
HP:0004879 |
| HPO |
HP:0005942 |
Desquamative interstitial pneumonitis |
"Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present." [LMU:crapp, PMID:14338290, PMID:16728712, PMID:16738196, PMID:23728865, PMID:25657025] |
The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP. |
HP:0006530 |
| HPO |
HP:0005943 |
Respiratory arrest |
— |
— |
HP:0002093 |
| HPO |
HP:0005944 |
Bilateral lung agenesis |
"Bilateral lack of development of the lungs." [HPO:probinson] |
— |
HP:0006703 |
| HPO |
HP:0005945 |
Laryngeal obstruction |
"Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [HPO:probinson] |
— |
HP:0025423 |
| HPO |
HP:0005946 |
Ventilator dependence with inability to wean |
— |
— |
HP:0004887 |
| HPO |
HP:0005947 |
Decreased sensitivity to hypoxemia |
"Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [HPO:probinson] |
Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). |
HP:0005957 |
| HPO |
HP:0005948 |
Multiple pulmonary cysts |
"The presence of multiple lung cysts." [PMID:20028879] |
Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. |
HP:0032445 |
| HPO |
HP:0005949 |
Apneic episodes in infancy |
"Recurrent episodes of apnea occurring during infancy." [HPO:curators] |
— |
HP:0002104 |