| 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:0000729 |
Autistic behavior |
"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490] |
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. |
HP:0000708 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0000337 |
Broad forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] |
Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. |
HP:0000290 |
| HPO |
HP:0000218 |
High palate |
"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0007018 |
Attention deficit hyperactivity disorder |
"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
— |
HP:0000736, HP:0000752 |
| HPO |
HP:0011344 |
Severe global developmental delay |
"A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0011343 |
Moderate global developmental delay |
"A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0003819 |
Death in childhood |
"Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] |
previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal)) |
HP:0011420 |
| HPO |
HP:0010763 |
Low insertion of columella |
"Insertion of the posterior columella below the nasal base." [PMID:19152422] |
This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. |
HP:0009929 |
| HPO |
HP:0000054 |
Micropenis |
"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] |
— |
HP:0008736 |
| HPO |
HP:0012471 |
Thick vermilion border |
"Increased width of the skin of vermilion border region of upper lip." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0000678 |
Dental crowding |
"Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724] |
Overlapping teeth within an alveolar ridge. |
HP:0000692 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0012510 |
Extra-axial cerebrospinal fluid accumulation |
"An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, PMID:22327705, PMID:23838695] |
— |
HP:0002921 |
| HPO |
HP:0000527 |
Long eyelashes |
"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] |
Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. |
HP:0000499 |
| HPO |
HP:0012450 |
Chronic constipation |
"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] |
— |
HP:0002019 |
| HPO |
HP:0000522 |
Alacrima |
"Absence of tear secretion." [HPO:probinson] |
Alacrima is generally a congenital deficiency. |
HP:0000633 |
| HPO |
HP:0000577 |
Exotropia |
"A form of strabismus with one or both eyes deviated outward." [HPO:probinson] |
— |
HP:0020049, HP:0032012 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0004325 |
Decreased body weight |
"Abnormally low body weight." [] |
— |
HP:0004323 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| 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 |