| HPO |
HP:0000035 |
Abnormal testis morphology |
"An anomaly of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000032 |
| HPO |
HP:0000975 |
Hyperhidrosis |
"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [HPO:probinson] |
The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. |
HP:0007550 |
| HPO |
HP:0100585 |
Telangiectasia of the skin |
"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions." [HPO:probinson] |
— |
HP:0001009 |
| HPO |
HP:0012732 |
Anorectal anomaly |
"An abnormality of the anus or rectum." [HPO:probinson] |
— |
HP:0012718 |
| HPO |
HP:0008065 |
Aplasia/Hypoplasia of the skin |
— |
— |
HP:0011355 |
| HPO |
HP:0002205 |
Recurrent respiratory infections |
"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] |
— |
HP:0002719, HP:0011947 |
| HPO |
HP:0000534 |
Abnormal eyebrow morphology |
"An abnormality of the eyebrow." [HPO:probinson] |
— |
HP:0001595, HP:0030669 |
| HPO |
HP:0000008 |
Abnormal morphology of female internal genitalia |
"An abnormality of the female internal genitalia." [HPO:probinson] |
— |
HP:0000812, HP:0010460 |
| HPO |
HP:0008066 |
Abnormal blistering of the skin |
"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [HPO:probinson, PMID:31596619] |
A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. |
HP:0011121 |
| HPO |
HP:0000600 |
Abnormality of the pharynx |
"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [HPO:probinson] |
The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. |
HP:0002087 |
| HPO |
HP:0000668 |
Hypodontia |
"The absence of five or less teeth from the normal series by a failure to develop." [HPO:ibailleulforestier, PMID:31468724] |
Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. |
HP:0009804 |
| HPO |
HP:0001803 |
Nail pits |
"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [PMID:19125433] |
— |
HP:0002164 |
| HPO |
HP:0002863 |
Myelodysplasia |
"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson] |
— |
HP:0004377 |
| HPO |
HP:0005528 |
Bone marrow hypocellularity |
"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [DDD:wouwehand, HPO:probinson] |
— |
HP:0012145 |
| HPO |
HP:0001251 |
Ataxia |
"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)." [HPO:probinson] |
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. |
HP:0011443 |
| HPO |
HP:0002745 |
Oral leukoplakia |
"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, PMID:17944749] |
The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. |
HP:0025125 |
| HPO |
HP:0006739 |
Squamous cell carcinoma of the skin |
"Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
— |
HP:0002860 |
| HPO |
HP:0001328 |
Specific learning disability |
"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] |
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. |
HP:0012759 |
| HPO |
HP:0002206 |
Pulmonary fibrosis |
"Replacement of normal lung tissues by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson] |
Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. |
HP:0006530 |
| HPO |
HP:0006515 |
Interstitial pneumonitis |
— |
— |
HP:0006530 |
| HPO |
HP:0008404 |
Nail dystrophy |
"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700] |
Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. |
HP:0001597 |
| HPO |
HP:0004334 |
Dermal atrophy |
"Partial or complete wasting (atrophy) of the skin." [HPO:probinson] |
— |
HP:0008065 |
| HPO |
HP:0006480 |
Premature loss of teeth |
"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal." [HPO:ibailleulforestier, PMID:31468724] |
— |
HP:0000164 |
| HPO |
HP:0001903 |
Anemia |
"A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] |
Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. |
HP:0001877 |
| HPO |
HP:0001394 |
Cirrhosis |
"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson] |
Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. |
HP:0410042 |