| HPO |
HP:0007392 |
Excessive wrinkled skin |
— |
— |
HP:0008067, HP:0100678 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| 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:0003745 |
Sporadic |
"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000006 |
Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| 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: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:0000555 |
Leukocoria |
"An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] |
The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). |
HP:0000615 |
| HPO |
HP:0001915 |
Aplastic anemia |
"Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, PMID:21239768] |
Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. |
HP:0001876 |
| 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:0001321 |
Cerebellar hypoplasia |
"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [HPO:probinson, PMID:26331051, PMID:27160001] |
By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. |
HP:0007360 |
| 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: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:0008402 |
Ridged fingernail |
"Longitudinal, linear prominences in the fingernail plate." [HPO:probinson, PMID:19125433] |
— |
HP:0001231 |
| HPO |
HP:0000485 |
Megalocornea |
"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
— |
HP:0001120 |
| HPO |
HP:0001276 |
Hypertonia |
"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson] |
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. |
HP:0003808 |
| HPO |
HP:0007898 |
Exudative retinopathy |
— |
— |
HP:0001147 |
| HPO |
HP:0002213 |
Fine hair |
"Hair that is fine or thin to the touch." [HPO:probinson] |
— |
HP:0010719 |
| 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: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:0001939 |
Abnormality of metabolism/homeostasis |
— |
— |
HP:0000118 |
| HPO |
HP:0007617 |
Fine, reticulate skin pigmentation |
— |
— |
HP:0001000 |
| HPO |
HP:0025356 |
Psychomotor retardation |
— |
A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. {xref="PMID:21044654"} |
HP:0000708 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0002344 |
Progressive neurologic deterioration |
— |
— |
HP:0001268 |