| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0011364 |
White hair |
"Hypopigmented hair that appears white." [DDD:cmoss] |
— |
HP:0011358 |
| HPO |
HP:0001744 |
Splenomegaly |
"Abnormal increased size of the spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0010450 |
Esophageal stenosis |
"An abnormal narrowing of the lumen of the esophagus." [HPO:probinson] |
— |
HP:0002031 |
| HPO |
HP:0002894 |
Neoplasm of the pancreas |
"A tumor (abnormal growth of tissue) of the pancreas." [HPO:probinson] |
— |
HP:0001732, HP:0011793 |
| 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:0000982 |
Palmoplantar keratoderma |
"Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson] |
— |
HP:0000972 |
| 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:0200037 |
Skin vesicle |
"A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
— |
HP:0011355 |
| HPO |
HP:0002216 |
Premature graying of hair |
"Development of gray hair at a younger than normal age." [HPO:probinson] |
— |
HP:0007495, HP:0009887 |
| 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:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0002514 |
Cerebral calcification |
"The presence of calcium deposition within brain structures." [HPO:probinson] |
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. |
HP:0002060, HP:0010766 |
| HPO |
HP:0000498 |
Blepharitis |
"Inflammation of the eyelids." [HPO:probinson] |
— |
HP:0000492, HP:0100533 |
| HPO |
HP:0010624 |
Aplastic/hypoplastic toenail |
"Absence or underdevelopment of the toenail." [HPO:probinson] |
— |
HP:0008386, HP:0008388 |
| HPO |
HP:0000819 |
Diabetes mellitus |
"A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson] |
— |
HP:0000818, HP:0001952 |
| HPO |
HP:0001053 |
Hypopigmented skin patches |
— |
— |
HP:0001010, HP:0011355 |
| HPO |
HP:0000704 |
Periodontitis |
"Inflammation of the periodontium." [HPO:ibailleulforestier] |
— |
HP:0000164, HP:0000168, HP:0012649 |
| HPO |
HP:0001873 |
Thrombocytopenia |
"A reduction in the number of circulating thrombocytes." [HPO:probinson] |
Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). |
HP:0011873 |
| 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:0008070 |
Sparse hair |
"Reduced density of hairs." [HPO:probinson, PMID:14676077] |
This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. |
HP:0011362 |
| HPO |
HP:0001928 |
Abnormality of coagulation |
"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] |
— |
HP:0001871 |
| HPO |
HP:0100670 |
Coarse metaphyseal trabecularization |
"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms." [PMID:409205] |
— |
HP:0005089, HP:0100671 |
| HPO |
HP:0002757 |
Recurrent fractures |
"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
This term will be made obsolete. The annotations need to be checked. |
HP:0002659 |