| HPO |
HP:0007141 |
Sensorimotor neuropathy |
— |
— |
HP:0009830 |
| HPO |
HP:0001640 |
Cardiomegaly |
"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography." [HPO:probinson, PMID:31194436] |
— |
HP:0001627 |
| HPO |
HP:0000546 |
Retinal degeneration |
"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, ORCID:0000-0003-0986-4123] |
— |
HP:0000479 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0001635 |
Congestive heart failure |
"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] |
— |
HP:0011025 |
| HPO |
HP:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0002652 |
Skeletal dysplasia |
"A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson] |
The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. |
HP:0011842 |
| HPO |
HP:0008064 |
Ichthyosis |
"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson] |
The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. |
HP:0011368 |
| HPO |
HP:0001761 |
Pes cavus |
"The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, PMID:19125433] |
— |
HP:0001760 |
| HPO |
HP:0003202 |
Skeletal muscle atrophy |
"The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] |
— |
HP:0030236 |
| HPO |
HP:0012722 |
Heart block |
"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson] |
— |
HP:0031546 |
| HPO |
HP:0001765 |
Hammertoe |
"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433] |
— |
HP:0001780 |
| HPO |
HP:0007703 |
Abnormality of retinal pigmentation |
— |
— |
HP:0000479 |
| HPO |
HP:0009830 |
Peripheral neuropathy |
"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken] |
Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. |
HP:0012638 |
| HPO |
HP:0000529 |
Progressive visual loss |
"A reduction of previously attained ability to see." [HPO:probinson] |
— |
HP:0000572 |
| HPO |
HP:0010864 |
Intellectual disability, severe |
"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. |
HP:0001249 |
| HPO |
HP:0004374 |
Hemiplegia/hemiparesis |
"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
— |
HP:0010549 |
| 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:0001252 |
Hypotonia |
"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198] |
Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. |
HP:0003808 |
| HPO |
HP:0007256 |
Abnormal pyramidal sign |
"Functional neurological abnormalities related to dysfunction of the pyramidal tract." [HPO:probinson] |
Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. |
HP:0002493 |
| 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:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| 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 |