| HPO |
HP:0100943 |
Sclerosis of the proximal phalanx of the hallux |
— |
— |
HP:0100930, HP:0100947 |
| HPO |
HP:0100944 |
Sclerosis of the distal phalanx of the hallux |
— |
— |
HP:0010053, HP:0100930, HP:0100948 |
| HPO |
HP:0100945 |
Sclerosis of the 1st metatarsal |
— |
— |
HP:0100930 |
| HPO |
HP:0100946 |
Sclerosis of proximal toe phalanx |
"An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] |
— |
HP:0010184, HP:0100924 |
| HPO |
HP:0100947 |
Sclerosis of middle toe phalanx |
"An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] |
— |
HP:0010183, HP:0100924 |
| HPO |
HP:0100948 |
Sclerosis of distal toe phalanx |
"An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] |
— |
HP:0010182, HP:0100924 |
| HPO |
HP:0100950 |
Decreased 3-hydroxyacyl-CoA dehydrogenase level |
— |
Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase. |
HP:0003287, HP:0012379 |
| HPO |
HP:0100951 |
Enlarged fossa interpeduncularis |
— |
— |
HP:0002119 |
| HPO |
HP:0100952 |
Enlarged sylvian cistern |
"An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)." [HPO:probinson] |
— |
HP:0002119 |
| HPO |
HP:0100953 |
Enlarged interhemispheric fissure |
— |
— |
HP:0012703 |
| HPO |
HP:0100954 |
Open operculum |
"Underdevelopment of the operculum." [HPO:sdoelken] |
— |
HP:0002538, HP:0006872 |
| HPO |
HP:0100955 |
Giant cell granuloma of mandible |
— |
— |
HP:0000277 |
| HPO |
HP:0100957 |
Abnormal renal medulla morphology |
"Any structural abnormality of the medulla of the kidney." [HPO:probinson, PMID:22343825] |
The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. |
HP:0012210 |
| HPO |
HP:0100958 |
Narrow foramen obturatorium |
"Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis." [HPO:probinson] |
— |
HP:0003172, HP:0003174 |
| HPO |
HP:0100959 |
Dense metaphyseal bands |
"Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex." [HPO:sdoelken, PMID:10352605] |
— |
HP:0000944 |
| HPO |
HP:0100960 |
Asymmetric ventricles |
— |
— |
HP:0002118 |
| HPO |
HP:0100961 |
Enlarged hippocampus |
"Increase in size of the hippocampus." [HPO:probinson] |
The hippocampus is part of the limbic system and plays a role in long- and short-term memory. |
HP:0025100 |
| HPO |
HP:0100962 |
Shyness |
— |
— |
HP:0012433 |
| HPO |
HP:0100963 |
Hyperesthesia |
"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain." [PMID:33085272] |
Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. |
HP:0033747 |
| HPO |
HP:0200000 |
Dysharmonic bone age |
"Different levels of maturation of different bones." [HPO:probinson] |
Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. \nIf the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. |
HP:0000927 |
| HPO |
HP:0200001 |
Dysharmonic accelerated bone age |
"A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] |
— |
HP:0005616, HP:0200000 |
| HPO |
HP:0200003 |
Splayed epiphyses |
"Flaring (widening) of the epiphysis." [HPO:probinson] |
— |
HP:0005930 |
| HPO |
HP:0200005 |
Abnormal shape of the palpebral fissure |
"The presence of an abnormal shape of the palpebral fissure." [HPO:probinson] |
— |
HP:0008050 |
| HPO |
HP:0200006 |
Slanting of the palpebral fissure |
— |
— |
HP:0008050 |
| HPO |
HP:0200007 |
Abnormal size of the palpebral fissures |
"An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken] |
— |
HP:0008050 |