| HPO |
HP:0011274 |
Recurrent mycobacterial infections |
"Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] |
Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. |
HP:0002718 |
| HPO |
HP:0032543 |
Lithoptysis |
"Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen." [PMID:23949189, PMID:29970776] |
— |
HP:0032016 |
| HPO |
HP:0000405 |
Conductive hearing impairment |
"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] |
A conductive hearing impariment with greater than 90 dB loss. |
HP:0000365, HP:0011452 |
| HPO |
HP:0000389 |
Chronic otitis media |
"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] |
— |
HP:0000388 |
| HPO |
HP:0002257 |
Chronic rhinitis |
"Chronic inflammation of the nasal mucosa." [HPO:probinson] |
— |
HP:0012384 |
| HPO |
HP:0001742 |
Nasal congestion |
"Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] |
— |
HP:0000366 |
| HPO |
HP:0031456 |
Ectopic pregnancy |
"A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)." [] |
— |
HP:0002686 |
| HPO |
HP:0025177 |
Peribronchovascular interstitial thickening |
"Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography." [] |
— |
HP:0006530 |
| HPO |
HP:0001217 |
Clubbing |
"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, PMID:19125433] |
Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). |
HP:0011297 |
| HPO |
HP:0001719 |
Double outlet right ventricle |
"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, PMID:10798433] |
During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. |
HP:0001710, HP:0011723 |
| HPO |
HP:0011617 |
Pulmonary situs ambiguus |
"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [DDD:dbrown] |
— |
HP:0011615 |
| HPO |
HP:0002878 |
Respiratory failure |
"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] |
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). |
HP:0002093 |
| HPO |
HP:0001746 |
Asplenia |
"Absence (aplasia) of the spleen." [HPO:curators] |
— |
HP:0010451 |
| HPO |
HP:0002090 |
Pneumonia |
"Inflammation of any part of the lung parenchyma." [HPO:probinson] |
— |
HP:0011947, HP:0012649 |
| HPO |
HP:0000246 |
Sinusitis |
"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson] |
— |
HP:0000245, HP:0012649 |
| HPO |
HP:0002110 |
Bronchiectasis |
"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] |
— |
HP:0025426 |
| HPO |
HP:0003251 |
Male infertility |
— |
— |
HP:0000789, HP:0012041 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0011109 |
Chronic sinusitis |
"A chronic form of sinusitis." [HPO:probinson] |
— |
HP:0000246 |
| HPO |
HP:0001334 |
Communicating hydrocephalus |
"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, HPO:probinson] |
Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. |
HP:0000238 |
| HPO |
HP:0000458 |
Anosmia |
"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:probinson] |
— |
HP:0004408 |
| HPO |
HP:0002315 |
Headache |
"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] |
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. |
HP:0012638 |
| HPO |
HP:0000405 |
Conductive hearing impairment |
"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] |
A conductive hearing impariment with greater than 90 dB loss. |
HP:0000365, HP:0011452 |
| HPO |
HP:0000481 |
Abnormal cornea morphology |
"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] |
— |
HP:0004328 |
| HPO |
HP:0005938 |
Abnormal respiratory motile cilium morphology |
"Abnormal arrangement of the structures of the motile cilium." [HPO:probinson, MP:0011050] |
— |
HP:0012253 |