| HP:0000054 | Micropenis | |
Show
|
| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
Show
|
| HP:0000081 | Duplicated collecting system | |
Show
|
| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
| HP:0000207 | Triangular mouth | |
Show
|
| HP:0000212 | Gingival hyperplasia | |
Show
|
| 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] |
Show
|
| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000269 | Prominent occiput | |
Show
|
| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
Show
|
| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000687 | Widely spaced teeth | |
Show
|
| HP:0000691 | Microdontia | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
Show
|
| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
Show
|
| HP:0001341 | Olfactory lobe agenesis | |
Show
|
| HP:0001344 | Absent speech development | |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001371 | Contractures | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001428 | Somatic mutation | |
Show
|
| HP:0001520 | Large for gestational age | "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [HPO:curators] |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| HP:0001548 | Overgrowth | |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
Show
|
| HP:0001658 | Myocardial infarction | |
Show
|
| HP:0001681 | Angina pectoris | |
Show
|
| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
Show
|
| HP:0001878 | Hemolytic anemia | |
Show
|
| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
Show
|
| HP:0001907 | Thromboembolism | |
Show
|
| HP:0001908 | Hypoplastic anemia | |
Show
|
| HP:0001915 | Aplastic anemia | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
Show
|
| HP:0002204 | Pulmonary embolism | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002326 | Transient ischemic attack | |
Show
|
| HP:0002376 | Developmental regression | |
Show
|
| HP:0002521 | Hypsarrhythmia | "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators] |
Show
|
| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
Show
|
| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
Show
|
| HP:0002863 | Myelodysplasia | |
Show
|
| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
Show
|
| HP:0003517 | Birth length greater than 97th percentile | |
Show
|
| HP:0003641 | Hemoglobinuria | |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0004808 | Acute myeloid leukemia | "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] |
Show
|
| HP:0004818 | paroxysmal nocturnal hemoglobinuria | |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0005484 | Microcephaly, postnatal | |
Show
|
| HP:0005528 | Bone marrow hypoplasia | |
Show
|
| HP:0007361 | Abnormality of the pons | |
Show
|
| HP:0008064 | Ichthyosiform abnormality of the skin | |
Show
|
| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
Show
|
| HP:0011121 | Abnormality of skin morphology | "Any morphological abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
Show
|
| HP:0011398 | Central hypotonia | "Reduced muscle tone secondary to an abnormality of the central nervous system." [DDD:fmuntoni] |
Show
|
| HP:0012211 | Abnormal renal physiology | "Any functional anomaly of the `kidney` (FMA:7203)." [HPO:probinson] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0012448 | Delayed myelination | "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432] |
Show
|
| HP:0012469 | Infantile spasms | "Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] |
Show
|
| HP:0012492 | Cerebral artery stenosis | "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432] |
Show
|
| HP:0100704 | Cortical visual impairment | "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] |
Show
|
| HP:0100724 | Hypercoagulability | |
Show
|
| HP:0200134 | Epileptic encephalopathy | |
Show
|
