| HPO |
HP:0000987 |
Atypical scarring of skin |
"Atypically scarred skin ." [HPO:sdoelken] |
— |
HP:0011355, HP:0100699 |
| 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:0000563 |
Keratoconus |
"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [HPO:probinson, PMID:7767020] |
Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. |
HP:0100689, HP:0100692 |
| HPO |
HP:0000501 |
Glaucoma |
"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, PMID:11815354] |
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. |
HP:0012373 |
| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| HPO |
HP:0000618 |
Blindness |
"Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [DDD:gblack, PMID:28779882] |
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. |
HP:0007663 |
| HPO |
HP:0000842 |
Hyperinsulinemia |
"An increased concentration of insulin in the blood." [HPO:probinson] |
— |
HP:0011014, HP:0040215 |
| HPO |
HP:0000463 |
Anteverted nares |
"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| HPO |
HP:0008046 |
Abnormal retinal vascular morphology |
"A structural abnormality of retinal vasculature." [HPO:probinson] |
— |
HP:0000479, HP:0008047 |
| HPO |
HP:0000035 |
Abnormal testis morphology |
"An anomaly of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000032 |
| HPO |
HP:0001347 |
Hyperreflexia |
"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] |
Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. |
HP:0031826 |
| HPO |
HP:0000602 |
Ophthalmoplegia |
"Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] |
— |
HP:0000597 |
| HPO |
HP:0000512 |
Abnormal electroretinogram |
"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] |
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. |
HP:0030453 |
| HPO |
HP:0008736 |
Hypoplasia of penis |
— |
— |
HP:0000036, HP:0000050 |
| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0007675 |
Progressive night blindness |
— |
— |
HP:0000662 |
| HPO |
HP:0005978 |
Type II diabetes mellitus |
"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] |
Persons with type II diabetes mellitus rarely develop ketoacidosis. |
HP:0000819 |
| HPO |
HP:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |
| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| 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:0000613 |
Photophobia |
"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] |
Note that the term photodysphoria is used to describe extreme photophobia. |
HP:0000504, HP:0000708 |
| 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:0000135 |
Hypogonadism |
"A decreased functionality of the gonad." [HPO:curators] |
Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. |
HP:0000080, HP:0008373 |
| HPO |
HP:0007703 |
Abnormality of retinal pigmentation |
— |
— |
HP:0000479 |
| HPO |
HP:0000431 |
Wide nasal bridge |
"Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, PMID:19152422] |
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. |
HP:0000422 |