| HPO |
HP:0200120 |
Chronic active hepatitis |
"Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis." [PMID:7418593] |
— |
HP:0200123 |
| HPO |
HP:0200122 |
Atypical or prolonged hepatitis |
— |
— |
HP:0012115 |
| HPO |
HP:0200123 |
Chronic hepatitis |
"Hepatitis that lasts for more than six months." [https://patient.info/doctor/chronic-hepatitis] |
— |
HP:0012115 |
| HPO |
HP:0200124 |
Chronic hepatitis due to cryptosporidium infection |
"Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue." [PMID:23440042] |
— |
HP:0200123 |
| HPO |
HP:0200125 |
Mitochondrial respiratory chain defects |
— |
— |
HP:0003287 |
| HPO |
HP:0200126 |
obsolete Amyloid cardiomyopathy |
— |
— |
— |
| HPO |
HP:0200127 |
Atrial cardiomyopathy |
"Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations." [PMID:27402624] |
— |
HP:0001638 |
| HPO |
HP:0200128 |
Biventricular hypertrophy |
"Thickening of the heart walls in both ventricles." [PMID:28740584] |
— |
HP:0001714 |
| HPO |
HP:0200129 |
obsolete Calcific mitral stenosis |
— |
— |
— |
| HPO |
HP:0200133 |
Lumbosacral meningocele |
— |
— |
HP:0100712 |
| HPO |
HP:0200134 |
Epileptic encephalopathy |
"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death." [PMID:21590624, PMID:23213494] |
Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. |
HP:0001298 |
| HPO |
HP:0200135 |
obsolete Macrocephaly due to hydrocephalus |
— |
— |
— |
| HPO |
HP:0200136 |
Oral-pharyngeal dysphagia |
— |
— |
HP:0002015 |
| HPO |
HP:0200138 |
Bilateral choanal atresia/stenosis |
— |
— |
HP:0000452, HP:0004502 |
| HPO |
HP:0200141 |
Small, conical teeth |
— |
— |
HP:0000691, HP:0000698 |
| HPO |
HP:0200143 |
Megaloblastic erythroid hyperplasia |
— |
— |
HP:0012132 |
| HPO |
HP:0200144 |
obsolete Anaphylactoid purpura |
— |
— |
— |
| HPO |
HP:0200146 |
Mucoid extracellular matrix accumulation |
"An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.)." [PMID:27031798] |
MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive. |
HP:0012180, HP:0032079 |
| HPO |
HP:0200147 |
Neuronal loss in basal ganglia |
"A reduction in the number of nerve cells in the basal ganglia." [HPO:probinson, PMID:13729575] |
See Fig. 11 in PMID:13729575. |
HP:0002134 |
| HPO |
HP:0200148 |
Abnormal liver function tests during pregnancy |
— |
— |
HP:0002910 |
| HPO |
HP:0200149 |
CSF lymphocytic pleiocytosis |
"An increased lymphocyte count in the cerebrospinal fluid." [KI:phemming] |
— |
HP:0012229 |
| HPO |
HP:0200150 |
Increased serum bile acid concentration during pregnancy |
— |
— |
HP:0012202 |
| HPO |
HP:0200151 |
Cutaneous mastocytosis |
"Multifocal dense infiltrates of mast cells in cutaneous tissue." [HPO:probinson, PMID:21668033] |
— |
HP:0008069, HP:0100495 |
| HPO |
HP:0200153 |
Agenesis of lateral incisor |
— |
— |
HP:0006485 |
| HPO |
HP:0200154 |
Agenesis of mandibular lateral incisor |
— |
— |
HP:0200153, HP:0200161 |