| HPO |
HP:0001645 |
Sudden cardiac death |
"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson] |
— |
HP:0001695, HP:0001699 |
| 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:0012472 |
Eclabion |
"A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0002047 |
Malignant hyperthermia |
"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] |
— |
HP:0004370 |
| 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:0000364 |
Hearing abnormality |
"An abnormality of the sensory perception of sound." [HPO:probinson] |
According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. |
HP:0031704 |
| HPO |
HP:0001019 |
Erythroderma |
"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
— |
HP:0011123 |
| HPO |
HP:0000457 |
Depressed nasal ridge |
"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, PMID:19152422] |
The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. |
HP:0011119 |
| HPO |
HP:0001829 |
Foot polydactyly |
"A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [HPO:probinson] |
— |
HP:0001780, HP:0009136, HP:0010442 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| HPO |
HP:0001376 |
Limitation of joint mobility |
"A reduction in the freedom of movement of one or more joints." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0000962 |
Hyperkeratosis |
"Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:probinson] |
— |
HP:0011368 |
| HPO |
HP:0001944 |
Dehydration |
— |
— |
HP:0011032 |
| HPO |
HP:0100716 |
Self-injurious behavior |
"Aggression towards oneself." [HPO:sdoelken] |
— |
HP:0006919 |
| HPO |
HP:0000656 |
Ectropion |
"An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] |
Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. |
HP:0000492 |
| HPO |
HP:0001161 |
Hand polydactyly |
"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] |
— |
HP:0009997, HP:0010442 |
| HPO |
HP:0007431 |
Congenital ichthyosiform erythroderma |
"An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson] |
— |
HP:0008064 |
| OMIM |
OMIM:242500 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B |
— |
— |
— |
| OMIM |
OMIM:601277 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A |
— |
— |
— |