Multilamellation of basement membranes within medullary peritubular capillaries

Multilamellation of medullary peritubular capillary basement membranes

Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. [KPMP:arosenberg]


Abnormal medullary peritubular capillary lumen morphology

Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. []


Cholesterol emboli within the medullary peritubular capillary lumen

Medullary peritubular capillary lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]


Intraluminal thrombi within medullary peritubular capillaries

Medullary peritubular capillary intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. [KPMP:arosenberg]


Organized thrombi within the medullary peritubular capillary lumen

Medullary peritubular capillary lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. []


Cortical peritubular capillary lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. []


Intraluminal thrombi within cortical peritubular capillaries

Cortical peritubular capillary intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. []


Cortical peritubular capillary lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. [KPMP:arosenberg]


Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. [KPMP:arosenberg]


Cholesterol emboli within arcuate vein lumen

Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]


Intraluminal thrombi within arcuate veins

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. [KPMP:arosenberg]


Organized thrombi within arcuate vein lumen

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. [KPMP:arosenberg]


Abnormal arcuate vein intima/media morphology

Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]


Intimal mucoid edema within arcuate veins

Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. []


Myxomatous change within arcuate vein intima/media

Arcuate vein intimal/medial myxomatous degeneration

Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. [KPMP:arosenberg]


Amyloidosis within arcuate vein intima/media

Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. [KPMP:arosenberg]


Abnormal cortical radial artery morphology

Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. []


Abnormal interlobular arterial lumen morphology

Abnormal cortical radial artery lumen morphology

Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. []


Cortical radial artery lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]


Abnormalities of the arcuate arterial intima/media

Abnormal arcuate artery intima/media morphology

Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. []


Amyloidosis within interlobular arterial intima/media

Interlobular arterial intima/media amyloidosis

Cortical radial artery intimal/medial amyloidosis

Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy [KPMP:arosenberg]


Abnormalities of the interlobular arterial intima/media

Abnormal cortical radial artery intima/media morphology

Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. []


Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. [PMID:29489242]


Abnormal renal arteriole lumen morphology

Abnormal structural characteristics of the interior space (lumen) of renal arterioles. [KPMP:arosenberg]


Cholesterol emboli within the arteriolar lumen

Renal arteriolar lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. [KPMP:arosenberg]


Abnormal renal arteriole intima/media morphology

Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]


Renal arteriolar lumen organized thrombi

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. []


Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. [KPMP:arosenberg]


Abnormal renal arteriole endothelium morphology

Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. []


Abnormalities of the arcuate arterial lumen

Abnormal arcuate artery lumen morphology

Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. []


Cholesterol emboli within arcuate arterial lumen

Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. []


Intraluminal thrombi within arcuate arterial lumen

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. []


Organized thrombi within arcuate arterial lumen

Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. []


Amyloidosis within renal arteriolar intima/media

Renal arteriole intima/media amyloidosis

Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. [KPMP:arosenberg]


Abnormal arcuate artery endothelium morphology

Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. []


Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. [KPMP:arosenberg]


Endoarterial hypercellularity within arcuate artery

Arcuate artery endoarterial hypercellularity

Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. [KPMP:arosenberg]


Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. [KPMP:arosenberg]


Arteriosclerosis within arcuate arterial intima/media

Arcuate artery intima/media arteriosclerosis

Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]


Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. [KPMP:arosenberg]


Renal arteriole intima/media arteriolosclerosis

Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]


Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. [KPMP:arosenberg]


Increased thickness of middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]


Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]


Medial hypertrophy within interlobular arteries

Cortical radial artery medial hypertrophy

Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. []


Medial atrophy within interlobular arteries

Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. [KPMP:arosenberg]


Arteritis within interlobular arterial intima/media

Interlobular artery medial/intimal arteriitis

Cortical radial artery medial/intimal arteriitis

Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. []


Amyloidosis within arcuate arterial intima/media

Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. []


Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. [KPMP:arosenberg]


Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. [KPMP:arosenberg]


Venulitis within arcuate vein intima/media

Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. []


Increased thickness of middle layer of the arterioles of the kidney. []


Accumulated storage material within arteriolar intima/media

Renal arteriole intima/media storage material accumulation

Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. []


Endoarterial hypercellularity within arterioles

Renal arteriole endoarterial hypercellularity

Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. [KPMP:arosenberg]


Renal arteriole leukocytic endoarterial hypercellularity

A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). [KPMP:arosenberg]


Endoarterial hypercellularity within arterioles consisting of foam cells

Renal arteriole foam cell endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. [KPMP:arosenberg]


Endoarterial hypercellularity within arterioles consisting of neutrophils

Renal arteriole neutrophil endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. [KPMP:arosenberg]


Endoarterial hypercellularity within arterioles consisting of lymphocytes

Renal arteriole lymphocyte endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. []


Renal arteriole intimal/medial onion skinning

Renal arteriole intima/media multilamellation

Multilamellation (onion skinning) within renal arteriole intima/media

Renal arteriole intimal/medial multilamellation

Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]


Endoarterial hypercellularity within arcuate artery consisting of leukocytes

Arcuate artery endoarterial leukocyte hypercellularity

Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). [KPMP:arosenberg]


Endoarterial hypercellularity within arcuate artery consisting of foam cells

Arcuate artery endoarterial foam cell hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. [KPMP:arosenberg]


Endoarterial hypercellularity within arcuate artery consisting of neutrophils

Arcuate artery endoarterial neutrophil hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. [KPMP:arosenberg]


Endoarterial hypercellularity within arcuate artery consisting of lymphocytes

Arcuate artery endoarterial lymphocyte hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. [KPMP:arosenberg]


Death of tissue in the inner or middle layer of the arcuate artery of the kidney. [KPMP:arosenberg]


Coagulative necrosis within interlobular arterial intima/media

Arcuate artery intima/media coagulative necrosis

A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. [KPMP:arosenberg]


Liquefactive necrosis of the arcuate artery intima/media

Arcuate artery intima/media liquefactive necrosis

A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]


Multilamellation (onion skinning) within arteriolar intima/media

Renal arteriole intima/media onion skinning

Arcuate vein intimal/medial storage material accumulation

Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]


Necrosis within interlobular arterial intima/media

Cortical radial artery intima/media necrosis

Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. [KPMP:arosenberg]


Liquefactive necrosis within interlobular arterial intima/media

Cortical radial artery intima/media liquefactive necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]


Cortical radial artery intima/media coagulative necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]


Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. [KPMP:arosenberg]


Liquefactive necrosis of the renal arteriolar intima/media

Renal arteriole intima/media liquefactive necrosis

A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. []


Renal arteriole intima/media coagulative necrosis

A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]


Granulomatous arteriolitis within arteriolar intima/media

Granulomatous arteriolitis of the arteriolar intima/media

A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. [KPMP:arosenberg]


Necrosis within arcuate vein intima/media

Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. []


Coagulative necrosis within arcuate vein intima/media

Arcuate vein medial/intimal coagulative necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]


Liquefactive necrosis within arcuate vein intima/media

Arcuate vein medial/intimal liquefactive necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]


Arcuate intimal/medial granulomatous venulitis

A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. [KPMP:arosenbereg]


Arcuate vein intima/media crystal accumulation

Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. [KPMP:arosenberg]


Accumulated crystals within renal arteriolar intima/media

Renal arteriole intima/media crystal accumulation

Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. []


Arteritis within arcuate arterial intima/media

Inflammation of the inner or middle layer of the arcuate arteries of the kidney. [KPMP:arosenberg]


Granulomatous arteritis within arcuate arterial intima/media

Arcuate artery intima/media granulomatous arteriitis

A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. []


Intraluminal thrombi within interlobular arterial lumen

Cortical radial artery intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. [KPMP:arosenberg]


Organized thrombi within interlobular arterial lumen

Cortical radial artery intraluminal organized thrombi

Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. [KPMP:arosenberg]


Abnormalities of the interlobular arterial endothelium

Abnormal cortical radial artery endothelium morphology

Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. [KPMP:arosenberg]


Endotheliosis within interlobular arteries

Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. [KPMP:arosenberg]


Endoarterial hypercellularity within interlobular artery

Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. [KPMP:arosenberg]


Endoarterial hypercellularity within interlobular artery consisting of leukocytes

Cortical radial artery leukocyte hypercellularity

A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). []


Endoarterial hypercellularity within interlobular artery consisting of lymphocytes

Cortical radial artery lymphocyte hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. [KPMP:arosenberg]


Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils

Cortical radial artery neutrophil hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. []


Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells

Cortical radial artery foam cell hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. [KPMP:arosenberg]


Arteriosclerosis within interlobular arterial intima/media

Cortical radial artery intima/media arteriosclerosis

Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. [KPMP:arosenberg]


Intimal mucoid edema within interlobular arterial intima/media

Cortical radial artery intimal mucoid edema

Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. [KPMP:arosenberg]


Multilamellation (onion skinning) within interlobular arterial intima/media

Cortical radial artery intima/media onion skinning

Cortical radial artery intima/media multilamellation

Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. [KPMP:arosenberg]


Cortical radial artery medial/intimal granulomatous arteriitis

A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. [KPMP:arosenberg]


Abnormal interlobular vein intima/media morphology

Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. []


Venosclerosis within interlobular vein intima/media

Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. [KPMP:arosenberg]


Intimal mucoid edema within interlobular veins

Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. []


Amyloidosis within interlobular vein intima/media

Interlobular vein intima/media amyloidosis

Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy [KPMP:arosenberg]


Venulitis within interlobular vein intima/media

Interlobular vein intima/media venulitis

Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. [KPMP:arosenberg]


Granulomatous venulitis within interlobular vein intima/media

Interlobular vein intima/media granulomatous venulitis

A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. [KPMP:arosenberg]


Necrosis within interlobular vein intima/media

Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. [KPMP:arosenberg]


Liquefactive necrosis within interlobular vein intima/media

Interlobular vein intima/media liquefactive necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. [KPMP:arosenberg]


Interlobular vein intima/media coagulative necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. [KPMP:arosenberg]


Medial atrophy within interlobular veins

Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. [KPMP:arosenberg]


Medial hypertrophy within interlobular veins

Increased thickness of middle layer of the interlobular veins of the kidney. [KPMP:arosenberg]


Multilamellation (onion skinning) within interlobular vein intima/media

Interlobular vein intima/media onion skinning

Interlobular vein intima/media multilamellation

Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. [KPMP:arosenberg]


Absence of the fingernail of the index (second) finger. [PMID:33568816]


The presence of an extra nail on the palmar (volar, ventral) surface of the finger. [PMID:20724029]


Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. [PMID:33407268]


An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. [ORCID:0000-0003-2307-1226, PMID:10867785]


An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. [ORCID:0000-0003-2307-1226, PMID:10867785]


Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness. []


Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. []


The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. [PMID:26830108]


Microvillar PAS-positive secretory granules

The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. [PMID:26830108]


Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. [PMID:32514796]


A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. [PMID:17853480]


Anti-Complement factor H antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. [ORCID:0000-0002-3387-1836, PMID:34032207, PMID:34032209]


Anti-phospholipase A2 receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. [ORCID:0000-0002-3387-1836, PMID:34169209, PMID:34277215]


Regional increase in the width (height) of the middle portion of the eyebrow. []


An abnormal reduction in the amount of spines on a given dendrite. []


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. [PMID:26306627]


Wasting (atrophy) of the optic chiasm. [PMID:34161705]


Increased megakaryocyte colony forming unit count

Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. [PMID:10891439]


A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. [ORCID:0000-0002-3302-4610, PMID:28067000, PMID:30104143, PMID:31285412]


A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. [ORCID:0000-0002-3302-4610, PMID:1885799, PMID:31587959]


Thick-walled abnormal gas-filled interstitial nodule within a lung. [ORCID:0000-0002-4095-8489]


Anti-human leukocyte antigen antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). [PMID:29985463]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C). []


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). []


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []


The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []


The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). []


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []


The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []


The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). []


Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. []


Elevated circulating sacchoropine concentration

An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. [PMID:571908]


Abnormal urinary non-proteinogenic amino acid level

Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []


The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. []


Inflammatory chilblain-like nodules on the hands and/or fingers. [ORCID:0000-0002-9578-0788, PMID:33972057]


Abnormally low blood oxygen level without the presence of dyspnea. [ORCID:0000-0002-9578-0788, PMID:32539537]


Complete tracheal ring deformity
Complete tracheal rings
CTRD

Continuous or nearly continuous configuration of the cartilaginous tracheal ring. [PMID:31215789]


A diffuse and specific increase in the number of alpha-cells. [PMID:24285676]


Synostosis of third and the fourth metacarpal bones

Middle and ring finger metacarpal synostosis

A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). [HPO:probinson, PMID:27698627]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). [PMID:28062719, PMID:33843981]


Anti-contactin-associated protein-like 2 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). [PMID:29561731, PMID:32651251, PMID:32783406]


Anti-dipeptidyl-peptidase-like protein 6 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). [PMID:27299786, PMID:28258082, PMID:32087460]


Anti-fibroblast growth factor receptor 3 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. [PMID:33563795, PMID:33588772]


Anti-gamma amino butyric acid type A receptors antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. [PMID:28202703, PMID:30347219]


Anti-gamma-aminobutyric acid B receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. [PMID:32103919, PMID:32710704, PMID:32783406]


Anti-glutamic acid decarboxylase 65 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). [PMID:30343467, PMID:32087461, PMID:32123047]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. [PMID:20420178, PMID:22270318, PMID:29561731]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). [PMID:21242500, PMID:22215239, PMID:32087460, PMID:32585946]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. [PMID:26377085]


Anti-immunoglobulin-like cell adhesion molecule 5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). [PMID:27299786, PMID:28381508, PMID:30694925]


Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). [PMID:28203616]


Anti-Kelch like protein 11 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). [PMID:31269365]


Anti-Anti-leucine-rich glioma-inactivated 1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). [PMID:32710704, PMID:32783406]


Anti-metabotropic glutamate receptor 1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). [PMID:26377085]


Anti-Metabotropic Glutamate Receptor Type 5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). [PMID:29703767]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. [PMID:27170572, PMID:27170573, PMID:28840178]


Anti-P/Q-type voltage-gated calcium-channel antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). [PMID:18295972, PMID:18653248, PMID:21115345]


Anti-Purkinje cell cytoplasmic type-2 antibody

Anti-microtubule-associated protein 1B antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). [PMID:28074593, PMID:31801846]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. [PMID:16801349]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. [PMID:29998156]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). [PMID:33144342]


Anti-Sry-like high mobility group box (SOX) 1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. [PMID:19667272, PMID:32103919]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). [PMID:28904989]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. [PMID:30350014]


Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. [PMID:23568983, PMID:26377085]


Anti-dopamine-2 receptors (D2R) antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. [PMID:27299786, PMID:32612568]


Anti-low-density lipoprotein receptor-related protein 4 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). [PMID:32830177]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. [PMID:22167224, PMID:30918333]


Differential degree of bluish discoloration between the upper and lower extremities. [ORCID:0000-0002-9578-0788, PMID:32644593]


Abnormally increased hair growth in the lskin of the back. []


Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. [PMID:28744080]


A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. [PMID:25535458]


Manifest deviation of the visual axes not controlled by fusion. [UManchester:psergouniotis]


A laboratory test result demonstrating an increased concentration of ammonia in the blood.


Nystagmus made apparent by looking to the right or to the left. [HPO:curators]


Enlarged cornea
Anterior megalophthalmos
Macrocornea

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. [HPO:curators]


Bowed legs
Bowed lower limbs
Bow-leggedness
Bowing of the legs

A bending or abnormal curvature affecting a long bone of the leg. [HPO:probinson]


chronic form of cutaneous lupus erythematosus in which the skin lesions mimic those of the systemic form but in which systemic signs are rare; characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy; lesions are surrounded by an elevated erythematous border; the condition typically involves the face and scalp, but widespread dissemination may occur.


Anti-Purkinje cell cytoplasmic antibody 1

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. [PMID:10980743, PMID:27606347]


High urine magnesium in the presence of hypomagnesemia. [Eurenomics:ewuehl]


Cone-shaped phalangeal epiphyses
Phalangeal cone-shaped epiphyses

Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. [PMID:22503633]


Congenital, generalised hypertrichosis
Congenital generalized hypertrichosis
Congenital generalised hypertrichosis
Congenital, generalized hypertrichosis

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [HPO:probinson]


The presence of two or more accessory spleens. [HPO:curators]


The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. [ORCID:0000-0002-3387-1836, PMID:9693976]

Anti-islet antigen-2 antibody positivity


Type I airway casts
Fibrin casts
Cellular airway casts
Diphtheroid membranes

A type of airway casts that consist of plasma components and inflammatory cells. [LMU:mgriese]


The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. [ORCID:0000-0002-3387-1836, PMID:17143785]


Abnormal umbilical artery doppler waveform during pregnancy

Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. [PMID:12768548]


Decreased CSF homovanillic acid concentration

Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. [KI:phemming, PMID:12615172]


Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. [PMID:25375853]


An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. [HPO:probinson]


Abnormality of urine catecholamine level

An abnormal amount of urinary catecholamine concentration. [HPO:probinson]


Abnormal amount of urate in the urine. [HPO:probinson]


Abnormal placental adhesion into the uterine wall

Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. [PMID:30210239]


Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. [PMID:31167209]


Abnormal umbilical blood flow measurement


Decreased circulating creatine kinase concentration

A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. [PMID:20460152, PMID:31536231]


An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. []


This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. [PMID:2406168, PMID:3292975]


Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). [ORCID:0000-0002-6670-9157]


A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


Any structural anomaly of the neck region. []


Any functional anomaly of the neck region. []


A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. [PMID:23696062]


A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. [PMID:14981382, PMID:28567101]


A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. [PMID:19293041]


The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. [PMID:10472400, PMID:28351595]


Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. [PMID:25721226]


Compound muscle action potential amplitude facilitation

Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. [PMID:25192047]


Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. []


Abnormal amyloid beta 42 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. [ORCID:0000-0003-2307-1226, PMID:27025652]


Decreased amyloid beta 42 peptide CSF concentration

A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226, PMID:15992827, PMID:31391004]


Increased amyloid beta 42 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226]


Abnormal Abeta 40 level
Abnormal beta amyloid 40 level

Abnormal amyloid beta 40 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. [ORCID:0000-0003-2307-1226, PMID:29420472]


Increased amyloid beta 40 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). [ORCID:0000-0003-2307-1226, PMID:19273758]


Abnormal amyloid beta peptide CSF concentration

Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. [ORCID:0000-0003-2307-1226, PMID:31391004]


Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. [PMID:33099808]


Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. [PMID:24883288, PMID:28876490]


A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. [LMU:mgriese, PMID:34713989]


Acellular airway casts
Type II airway casts

A type of airway casts that consist of impacted mucus. [LMU:mgriese]


18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. [PMID:33452041]


The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. [ORCID:0000-0002-7653-4653, PMID:19248150, PMID:20227670, PMID:23718767]


A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. [PMID:30027296, PMID:3111205]


A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. [PMID:30027296]


A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. [PMID:30027296]


Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. [PMID:16813740]


Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. []


Onset of disease at an age of greater than or equal to 16 to under 19 years. []


Onset of disease at an age of greater than or equal to 19 to under 25 years. []


Onset of disease at an age of greater than or equal to 25 to under 40 years. []


Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). [PMID:27683622]


An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. [ORCID:0000-0003-2307-1226, PMID:10867785]


Skeletal muscle autophagosome accumulation

Abnormal accumulation of autophagosomes in skeletal muscle tissue. [PMID:20040311]


Hyperechoic muscle
Muscle ultrasound hyperechogenicity

An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. [PMID:32989482]


Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. [PMID:30129127]


Limited mobility of the eye to move from side to side (horizontally) within its socket. [ORCID:0000-0002-3302-4610]


Limited mobility of the eye to move up and down (vertically) within its socket. [ORCID:0000-0002-3302-4610]


Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. [PMID:21856041]


Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. [PMID:12423480, PMID:32277778]


A reduction in the concentration of bile acid in the blood. []


Decreased circulating chenodiol concentration

Decreased circulating chenodeoxycholic acid concentration

A reduced concentration of chenodeoxycholic acid in the blood circulation. []


Elevated urinary prostaglandin E2 metabolite level

An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. [PMID:28700713]


Hypoplastic anterior limbs of the internal capsule

Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. [PMID:32395406]


Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes. []


Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. [PMID:17898206, PMID:33642486]


Anti-side-chain cleavage enzyme antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). [ORCID:0000-0002-3387-1836, PMID:9030872]


An increased amount of calprotectin in the feces. []


Applies to a sign or symptom that is provoked or brought about by eating fava beans. [PMID:29298156]


Anti-steroid 17alpha-hydroxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. [ORCID:0000-0002-3387-1836, PMID:9030872]


Anti-salivary protein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. [ORCID:0000-0002-3387-1836, PMID:34249010]


Anti-Zinc transporter 8 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. [ORCID:0000-0002-3387-1836, PMID:32946793]


Anti-carbonic anhydrase VI antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. [ORCID:0000-0002-3387-1836, PMID:34249010]


Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. [PMID:18461349, PMID:7529919]


Anti-plasminogen binding peptide antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. [ORCID:0000-0002-3387-1836, PMID:30075546]


Anti-parotid secretory protein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. [ORCID:0000-0002-3387-1836, PMID:34249010]


The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. [ORCID:0000-0002-3387-1836, PMID:24051695, PMID:33744411]


The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. [ORCID:0000-0002-3387-1836, PMID:22707647, PMID:9030872]


Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. [PMID:21472065]


An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis. []


Decreased circulating apolipoprotein B concentration

Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. [PMID:16333315]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. [ORCID:0000-0002-3387-1836, PMID:14645862, PMID:25815344]


Anti-complement component C1q antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. [ORCID:0000-0002-3387-1836, PMID:25815344]


Anti-centromere protein A antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. [ORCID:0000-0002-3387-1836, PMID:30316987]


Anti-centromere protein B antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. [ORCID:0000-0002-3387-1836, PMID:30316987]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. [ORCID:0000-0002-3387-1836, PMID:34207757]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. [ORCID:0000-0002-3387-1836, PMID:30316987]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. [ORCID:0000-0002-3387-1836, PMID:29369808]


Anti-nucleolus-organizing region antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. [ORCID:0000-0002-3387-1836, PMID:28749191]


Anti-phosphatidyl ethanolamine antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. [ORCID:0000-0002-3387-1836, PMID:22796282]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. [ORCID:0000-0002-3387-1836, PMID:28749191]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. [ORCID:0000-0002-3387-1836, PMID:28749191]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. [ORCID:0000-0002-3387-1836, PMID:19565553]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. [ORCID:0000-0002-3387-1836, PMID:28749191]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. [ORCID:0000-0002-3387-1836, PMID:30316987]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. [ORCID:0000-0002-3387-1836, PMID:30316987]


Anti-platelet derived growth factor receptor

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. [ORCID:0000-0002-3387-1836, PMID:28749191]


Anti-cyclic citrullinated peptide antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. [ORCID:0000-0002-3387-1836, PMID:30316987]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. [ORCID:0000-0002-3387-1836, PMID:28749191]


Anti-angiotensin receptor type-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. [ORCID:0000-0002-3387-1836, PMID:28749191]


Anti-endothelin-1 type A receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. [ORCID:0000-0002-3387-1836, PMID:28749191]


Anti-phosphatidic acid antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. [ORCID:0000-0002-3387-1836, PMID:30868842]


Anti-phosphatidyl choline antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. [ORCID:0000-0002-3387-1836, PMID:31354742]


Anti-phosphatidyl glycerol antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. [ORCID:0000-0002-3387-1836, PMID:26563139]


Anti-phosphatidyl inositol antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. [ORCID:0000-0002-3387-1836, PMID:31354742]


Anti-phosphatidyl serine antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. [ORCID:0000-0002-3387-1836, PMID:26563139]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. [ORCID:0000-0002-3387-1836, PMID:33464429]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. [ORCID:0000-0002-3387-1836, PMID:31354742]


Anti-ganglioside-monosialic acid antibody positivity

Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury [ORCID:0000-0002-3387-1836, PMID:32460711]


Anti-neutrophil elastase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. [ORCID:0000-0002-3387-1836, PMID:32091008]


Anti-TIF1-gamma antibody positivity
Anti-TIF-1gamma antibody positivity

Anti-transcription intermediary factor-1gamma antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. [ORCID:0000-0002-3387-1836, PMID:33876712]


Anti-Ago2 antibody positivity
Anti-Su antibody positivity

Anti-Su antigen/argonaute 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. [ORCID:0000-0002-3387-1836, PMID:33876712]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. [ORCID:0000-0002-3387-1836, PMID:29554146]


Anti-Y-box protein-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. [ORCID:0000-0002-3387-1836, PMID:29554146]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. [ORCID:0000-0002-3387-1836, PMID:14598044, PMID:29554146]


Anti-Gerbich phenotype 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. [ORCID:0000-0002-3387-1836, PMID:29554146]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. [ORCID:0000-0002-3387-1836, PMID:29554146, PMID:32286240]


The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. [ORCID:0000-0002-3387-1836, PMID:32460711]


Anti-liver kidney microsomal type 1 antibody positivity

Anti-type I liver-kidney microsomal antibody positivity

The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. [ORCID:0000-0002-3387-1836, PMID:29554146]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. [ORCID:0000-0002-3387-1836, PMID:29554146]


Anti-Kelch like protein 12 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. [ORCID:0000-0002-3387-1836, PMID:29554146]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody. [ORCID:0000-0002-3387-1836, PMID:32459722]


Anti-angiotensin-converting enzyme 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. [ORCID:0000-0002-3387-1836, PMID:33910447]


The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. [ORCID:0000-0002-3387-1836, PMID:34759020]


The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. [ORCID:0000-0002-3387-1836, PMID:24829594]


The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. [ORCID:0000-0002-3387-1836, PMID:31522790]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. []


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. []


The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. [ORCID:0000-0002-3387-1836, PMID:24829594]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]


The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]


The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:31837178]


The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. [ORCID:0000-0002-3387-1836, PMID:24829594]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. []


The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. [ORCID:0000-0002-3387-1836, PMID:24829594]


The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. [ORCID:0000-0002-3387-1836, PMID:24829594]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. [ORCID:0000-0002-3387-1836, PMID:17785314]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. [ORCID:0000-0002-3387-1836, PMID:31522790]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. [ORCID:0000-0002-3387-1836, PMID:34174799]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. [ORCID:0000-0002-3387-1836, PMID:17785314]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34728497]


Anti-neurofascin 186 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:33723708]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34675937]


Anti-contactin-associated protein 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. [ORCID:0000-0002-3387-1836, PMID:32266541]


Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity

Anti-SUMO-activating enzyme antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. [ORCID:0000-0002-3387-1836, PMID:33343724]


Anti-SUMO-activating enzyme subunit 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. [ORCID:0000-0002-3387-1836, PMID:22884621]


Anti-SUMO-activating enzyme subunit 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. [ORCID:0000-0002-3387-1836, PMID:22884621]


Anti-NXP-2 antibody positivity
Anti-MJ/NXP-2 antibody positivity

Anti-nuclear matrix protein-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. [ORCID:0000-0002-3387-1836, PMID:33343724]


Anti-threonyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:22732951, PMID:33343724]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. [ORCID:0000-0002-3387-1836, PMID:30915082, PMID:32083547]


Anti-alanyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:33343724]


Anti-glycyl tRNA-synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. [ORCID:0000-0002-3387-1836, PMID:27212602]


Anti-aminoacyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. [PMID:23573256]


Anti-isoleucyl tRNA-synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. [ORCID:0000-0002-3387-1836, PMID:33343724]


Phenylanyl-t-RNA synthetase alpha antibody positivity

Anti-phenylalanyl tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:31665469]


Anti-tyrosyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:32933078]


Anti-asparaginyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:32933078]


Anti-histidyl tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. [ORCID:0000-0002-3387-1836, PMID:15804708]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). [ORCID:0000-0002-3387-1836, PMID:32933078]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. [ORCID:0000-0002-3387-1836, PMID:24557777]


The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. [PMID:32286240, PMID:33789734]


Anti-beta-2-Glycoprotein I IgG antibody positivity

Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]


Anti-beta-2-Glycoprotein I IgM antibody positivity

Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]


Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. [PMID:22966073]


Abnormal circulating interleukin 9 concentration

Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation. []


Reduced circulating interleukin 9 concentration

An abnormally decreased concentration of interleukin 9 in the blood circulation. []


Abnormal circulating interleukin 10 concentration

Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. []


Reduced circulating interleukin 10 concentration

An abnormally decreased concentration of interleukin 10 in the blood circulation. []


Abnormal circulating interleukin 21 concentration

Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation. []


Reduced circulating interleukin 21 concentration

An abnormally decreased concentration of interleukin 21 in the blood circulation. []


Increased circulating interleukin 21 concentration

An abnormally increased concentration of interleukin 21 in the blood circulation. []


Abnormal circulating interleukin 22 concentration

Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation. []


Reduced circulating interleukin 22 concentration

An abnormally decreased concentration of interleukin 22 in the blood circulation. []


Increased circulating interleukin 22 concentration

An abnormally increased concentration of interleukin 22 in the blood circulation. []


Abnormal circulating interleukin 23 concentration

Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation. []


Reduced circulating interleukin 23 concentration

An abnormally decreased concentration of interleukin 23 in the blood circulation. []


Increased circulating interleukin 23 concentration

An abnormally increased concentration of interleukin 23 in the blood circulation. []


Abnormal circulating interleukin 27 concentration

Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation. []


Reduced circulating interleukin 27 concentration

An abnormally decreased concentration of interleukin 27 in the blood circulation. []


Increased circulating interleukin 27 concentration

An abnormally increased concentration of interleukin 27 in the blood circulation. []


Abnormal circulating interleukin 17A concentration

Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation. []


Reduced circulating interleukin 17A concentration

An abnormally decreased concentration of interleukin 17A in the blood circulation. []


Increased circulating interleukin 17A concentration

An abnormally increased concentration of interleukin 17A in the blood circulation. []


Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule. [PMID:26251641, PMID:31194327]


Absence or underdevelopment of the liver. []


Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging. [PMID:23573097]


Spastic weakness found in both lower extremities and one upper extremity. [ORCID:0000-0002-6670-9157, PMID:27188686, PMID:32821558]


Increased insulin like growth factor binding protein acid labile subunit concentration

An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. []


A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). [PMID:19232556]


Anti-TSH receptor antibody positivity
TRAbs

Anti-thyroid-stimulating hormone receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. [ORCID:0000-0002-3387-1836, PMID:10874533, PMID:26293122, PMID:3018097, PMID:30224035]


Abnormal fetal cardiovascular physiology

Abnormal functionality of the fetal cardiovascular system. []


Elevated fetal middle cerebral artery peak systolic velocity

Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. [ORCID:0000-0002-8593-2186, PMID:28191060]


Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells. []


Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium. []


This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. []


This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 21 6/7 (inclusive). []


This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). []


Abnormal CSF homovanillic acid concentration

Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. []


Increased CSF homovanillic acid concentration

Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. []


Abnormal iduronate sulfatase concentration


An decreased level of iduronate-2-sulfatase activity in the blood circulation. []


Decreased circulating C1-esterase inhibitor concentration

Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. [PMID:30844193]


Abnormal fetal nervous system morphology

An anomlous structural finding of the fetal nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


Abnormal fetal gastrointestinal system morphology

An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


Abnormal bleeding inside the skull (cranium) of a fetus. []


A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch. []


A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain. [PMID:16082722, PMID:27734711]


A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain. [PMID:16082722]


A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space). []


A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum. []


Fetal intraventricular hemorrhage without ventriculomegaly

A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium. [PMID:16082722]


A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum. [PMID:12795563, PMID:26426778]


A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum. [PMID:26426778]


Sonographic non-visualized fetal bladder

Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation. [PMID:8915088]


Fetal intraventricular hemorrhage with ventriculomegaly

A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography. []


Fetal intraventricular hemorrhage with periventricular hemorrhage

A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma. [PMID:12905503]


Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. [ORCID:0000-0001-8612-1062, PMID:19098178]


A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. [ORCID:0000-0001-8612-1062, PMID:24585534]


Increased umbilical artery pulsatility index

Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth. [PMID:32746120]


Absent end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. []


Reversed end-diastolic umbilical artery flow

An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow). [PMID:19797010]


Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. [ORCID:0000-0001-8612-1062, PMID:23408600, PMID:31173381]


A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta. [PMID:27860551]


A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta. [PMID:27860551]


A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta. []


A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). [PMID:29446682]


S-shaped kidney
Type B cross fused renal ectopia

A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. [PMID:23599575, PMID:29446682]


A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. [PMID:29446682]


A type of cross fused renal ectopia in which kidneys fuse along their medial borders. []


A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. [PMID:29446682]


A type of neural tube defect that is not covered by skin. [PMID:23456749]


A type of neural tube defect that is covered by skin. [PMID:23456749]


An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more. [PMID:30422714]


An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass. [PMID:15888614]


An abnormal growth (lump) of tissue that projects from the fetal scalp. [PMID:24767653]


Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus. [PMID:27433255]


An unusually severe infection by an influenza virus. [PMID:25814066]


Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. [PMID:16507941, PMID:9880279]


An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes. [PMID:10732836, PMID:25313414]


The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda. [PMID:14557570]


Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [PMID:19945618]


The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement. [ORCID:0000-0002-3387-1836, PMID:23117396, PMID:27146825, PMID:28838767]


Absence or underdevelopment of the midbrain (mesencephalon). []


Hypoplastic mesencephalon
Hypoplasia of the mesencephalon

A developmental defect characterized by underdevelopment of the mesencephalon. [PMID:25561519]


Developmental defect characterized by the absence of the zygomatic arch. [PMID:26119818]


A developmental defect characterized by absence or underdevelopment of one or more facial bone. []


Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle. [PMID:25045355]


Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. [PMID:34800980]


Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. [PMID:19338976]


Elevated circulating deoxyuridine concentration

Concentration of 2-deoxyuridine in the blood circulation is above the normal range. []


The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals. []


Increased fecal protoporphyrin concentration

Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces. [PMID:8852667]


Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection. [PMID:32491354]


Decreased middle cerebral artery pulsatility index

Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity. [PMID:23456797]


An abnormality of the lacrimal bone. [GOC:MG]


Any structural anomaly of the iliac artery. []


Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. [ORCID:0000-0002-4422-1708]


Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). [ISBN:0890425558, ORCID:0000-0002-4422-1708]


Any abnormal behavior related to communication with language. []


A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused. [ORCID:0000-0002-4422-1708, PMID:27103941]


Abnormal production of facial expressions

An abnormality in the subdomain of nonverbal communication which involves a reduction in or atypical production of emotional facial expressions. [ORCID:0000-0002-4422-1708, PMID:26803417]


Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate. [ORCID:0000-0002-4422-1708, PMID:25388062]


A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners. [ORCID:0000-0002-4422-1708, PMID:23880382]


Fixated interest with abnormal intensity

An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person. [ORCID:0000-0002-4422-1708, PMID:23880382]


Unusual interest in sensory aspects of the environment. [ORCID:0000-0002-4422-1708, PMID:29112858]


Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party. [ORCID:0000-0002-4422-1708, PMID:18064552]


Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5. [ORCID:0000-0002-4422-1708, PMID:25428293]


Lack of interest of an individual for peers of comparable age and social groups. [ORCID:0000-0002-4422-1708]


Decreased sharing of interests with others. [ORCID:0000-0002-4422-1708]


An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life. [ORCID:0000-0002-4422-1708, PMID:26803417]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. [PMID:27460184, PMID:33070888]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. [PMID:15179063, PMID:27460184]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. [PMID:27235344, PMID:30918333, PMID:32830177]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). [PMID:29249374, PMID:29525731, PMID:31533147, PMID:32087460]


An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization. [PMID:24091809, PMID:28548288]


A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes. [ORCID:0000-0002-4422-1708, PMID:21182208]


Abnormal fetal genitourinary system morphology

An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


Fetal atrial septal dilatation
Redundant septum primum flap

Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. [PMID:30601441]