| HPO |
HP:0011793 |
Neoplasm by anatomical site |
"Neoplasm categorized according to the anatomical site of origin of the neoplasm." [DDD:rscott] |
— |
HP:0002664 |
| HPO |
HP:0011794 |
Embryonal renal neoplasm |
"The presence of an embryonal neoplasm of the kidney that primarily affects children." [DDD:rscott] |
— |
HP:0002898, HP:0009726 |
| HPO |
HP:0011795 |
Intralobar nephroblastomatosis |
"Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [DDD:rscott] |
— |
HP:0008643 |
| HPO |
HP:0011796 |
Perilobar nephroblastomatosis |
"Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [DDD:rscott] |
— |
HP:0008643 |
| HPO |
HP:0011797 |
Papillary renal cell carcinoma type 1 |
"A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [DDD:rscott, PMID:12429790] |
— |
HP:0006766 |
| HPO |
HP:0011798 |
Renal oncocytoma |
"A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [DDD:rscott] |
Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). |
HP:0009726 |
| HPO |
HP:0011799 |
Abnormality of facial soft tissue |
— |
— |
HP:0000271 |
| HPO |
HP:0011800 |
Midface retrusion |
"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0000309 |
| HPO |
HP:0011801 |
Enlargement of parotid gland |
"Increased size of the parotid gland." [DDD:jclayton-smith] |
— |
HP:0000197 |
| HPO |
HP:0011802 |
Hamartoma of tongue |
"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, PMID:17667541] |
— |
HP:0100648 |
| HPO |
HP:0011803 |
Bifid nose |
"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [PMID:19152422] |
This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. |
HP:0004122 |
| HPO |
HP:0011804 |
Abnormal muscle physiology |
"A functional abnormality of a skeletal muscle." [HPO:probinson] |
— |
HP:0003011 |
| HPO |
HP:0011805 |
Abnormal skeletal muscle morphology |
"A structural abnormality of a skeletal muscle." [HPO:probinson] |
— |
HP:0003011 |
| HPO |
HP:0011807 |
Type 1 muscle fiber atrophy |
"Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] |
— |
HP:0100295 |
| HPO |
HP:0011808 |
Decreased patellar reflex |
"Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson] |
— |
HP:0002600 |
| HPO |
HP:0011809 |
Paradoxical myotonia |
"A type of myotonia that worsens with repeated muscle contractions." [HPO:probinson, PMID:7678441] |
In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. |
HP:0002486 |
| HPO |
HP:0011810 |
Impaired two-point discrimination |
"A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [HPO:probinson] |
A normal individual can sense about a 3 mm separation of points on the fingertips. |
HP:0011730 |
| HPO |
HP:0011811 |
Impaired touch localization |
"A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [HPO:probinson] |
— |
HP:0011730 |
| HPO |
HP:0011812 |
Agraphesthesia |
"Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [HPO:probinson] |
— |
HP:0011730 |
| HPO |
HP:0011813 |
Increased cerebral lipofuscin |
"Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, PMID:9531959] |
— |
HP:0007367 |
| HPO |
HP:0011814 |
Increased urinary hypoxanthine |
"An increased level of hypoxanthine in the urine." [HPO:probinson] |
— |
HP:0033354 |
| HPO |
HP:0011815 |
Cephalocele |
"A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson, PMID:24931720] |
A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). |
HP:0000929 |
| HPO |
HP:0011816 |
Parietal encephalocele |
"An encephalocele located between bregma and lambda." [DDD:awilkie, PMID:2773494] |
— |
HP:0002084 |
| HPO |
HP:0011817 |
Basal encephalocele |
"Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [HPO:probinson, PMID:4966739] |
The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. |
HP:0002084 |
| HPO |
HP:0011818 |
Nasofrontal encephalocele |
— |
— |
HP:0007330 |