From 34c3ac2deefa75b65b52012efc3167efb9d11bcb Mon Sep 17 00:00:00 2001 From: Sue Bello Date: Tue, 3 Sep 2024 17:18:15 -0400 Subject: [PATCH] working on #4024 still dysplasia synonyms --- src/ontology/mp-edit.owl | 251 +++++++++++++++++++-------------------- 1 file changed, 125 insertions(+), 126 deletions(-) diff --git a/src/ontology/mp-edit.owl b/src/ontology/mp-edit.owl index a205ae2f..2b305615 100644 --- a/src/ontology/mp-edit.owl +++ b/src/ontology/mp-edit.owl @@ -14898,7 +14898,7 @@ AnnotationAssertion(Annotation( "MP:0000011") AnnotationAssertion( "abnormality of adipose tissue") AnnotationAssertion( "adipose tissue abnormalities") -AnnotationAssertion( "adipose tissue dysplasia") +AnnotationAssertion( "adipose tissue dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000003") AnnotationAssertion(rdfs:label "abnormal adipose tissue morphology") @@ -15119,7 +15119,7 @@ SubClassOf( (abnormal tympanic ring morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached") -AnnotationAssertion( "tympanic ring dysplasia") +AnnotationAssertion( "tympanic ring dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal ectotympanic") AnnotationAssertion( "MP:0000030") @@ -15714,8 +15714,8 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "https://radiopaedia.org/articles/ethmoid-bone-1") "any structural anomaly of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits; it is cubical in shape, relatively lightweight because of its spongy construction, and contributes to the anterior cranial fossa") AnnotationAssertion( "abnormal ethmoidal bone morphology") -AnnotationAssertion( "ethmoid bone dysplasia") -AnnotationAssertion( "ethmoidal bone dysplasia") +AnnotationAssertion( "ethmoid bone dysplasia") +AnnotationAssertion( "ethmoidal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000100") AnnotationAssertion(rdfs:label "abnormal ethmoid bone morphology") @@ -15756,7 +15756,7 @@ SubClassOf( (abnormal sphenoid bone morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:9753320") "any structural anomaly of the irregularly shaped bone of the base of the skull") -AnnotationAssertion( "sphenoid bone dysplasia") +AnnotationAssertion( "sphenoid bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000104") AnnotationAssertion(rdfs:label "abnormal sphenoid bone morphology") @@ -15786,7 +15786,7 @@ SubClassOf( (abnormal frontal bone morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:7914451") "any structural anomaly of the single bone forming the forehead and roof of the eye orbit") -AnnotationAssertion( "frontal bone dysplasia") +AnnotationAssertion( "frontal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000107") AnnotationAssertion(rdfs:label "abnormal frontal bone morphology") @@ -15809,7 +15809,7 @@ SubClassOf( (abnormal parietal bone morphology) AnnotationAssertion(Annotation( ) Annotation( "https://quizlet.com/222497251/cranial-bones-flash-cards/") Annotation( "https://www.merriam-webster.com/dictionary/parietal%20bone") "any structural anomaly of either of a pair of membranous bones of the roof of the skull located between the frontal and occipital bones that are large, curved and quadrilateral in outline, articulate with each other at the midline in the sagittal suture, and form most of the superior and lateral aspects of the cranium") -AnnotationAssertion( "parietal bone dysplasia") +AnnotationAssertion( "parietal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000109") AnnotationAssertion(rdfs:label "abnormal parietal bone morphology") @@ -16117,7 +16117,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "PMID:10572046") "any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal") AnnotationAssertion( "abnormal vertebral bodies") -AnnotationAssertion( "vertebral body dysplasia") +AnnotationAssertion( "vertebral body dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000141") AnnotationAssertion(rdfs:label "abnormal vertebral body morphology") @@ -17355,8 +17355,8 @@ SubClassOf( "MESH:A07.541.459") "any structural anomaly of the thin membranous structure between the two heart atria") AnnotationAssertion( "Fyler:2002") AnnotationAssertion( "abnormal atrial septum morphology") -AnnotationAssertion( "atrial septum dysplasia") -AnnotationAssertion( "interatrial septum dysplasia") +AnnotationAssertion( "atrial septum dysplasia") +AnnotationAssertion( "interatrial septum dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000282") AnnotationAssertion( ) @@ -17401,7 +17401,7 @@ AnnotationAssertion( "abnormal left AV valve morphology") AnnotationAssertion( "abnormal left atrioventricular valve morphology") AnnotationAssertion( "abnormal mitral valvar morphology") -AnnotationAssertion( "mitral valve dysplasia") +AnnotationAssertion( "mitral valve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000286") AnnotationAssertion( ) @@ -17424,7 +17424,7 @@ AnnotationAssertion(Annotation( "pericardial abnormalities") AnnotationAssertion( "Fyler:1900") AnnotationAssertion( "abnormal pericaridal sac morphology") -AnnotationAssertion( "pericardium dysplasia") +AnnotationAssertion( "pericardium dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000288") AnnotationAssertion( ) @@ -18116,8 +18116,8 @@ AnnotationAssertion( "abnormal hair follicles") AnnotationAssertion( "hair follicles abnormalities") AnnotationAssertion( "abnormal hair follicle structure") -AnnotationAssertion( "hair follicle dysplasia") AnnotationAssertion( "hair follicle structure abnormalities") +AnnotationAssertion( "hair follicle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000377") AnnotationAssertion(rdfs:label "abnormal hair follicle morphology") @@ -18625,7 +18625,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the face or head affecting appearance") AnnotationAssertion( "craniofacial abnormalities") AnnotationAssertion( "craniofacial defects") -AnnotationAssertion( "craniofacial dysplasia") +AnnotationAssertion( "craniofacial dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000428") AnnotationAssertion( ) @@ -19316,7 +19316,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal") AnnotationAssertion( "large intestine abnormalities") AnnotationAssertion( "abnormal intestinum crassum") -AnnotationAssertion( "large intestine dysplasia") +AnnotationAssertion( "large intestine dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000489") AnnotationAssertion(rdfs:label "abnormal large intestine morphology") @@ -19580,7 +19580,7 @@ AnnotationAssertion( "abnormal urinary organs") AnnotationAssertion( "excretory system defects") AnnotationAssertion( "urinary organ abnormalities") -AnnotationAssertion( "urinary system dysplasia") +AnnotationAssertion( "urinary system dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000516") AnnotationAssertion(rdfs:label "abnormal renal/urinary system morphology") @@ -19620,7 +19620,7 @@ SubClassOf( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration; it contains the renal corpuscles, the renal tubules (except for parts of the loop of Henle which descend into the renal medulla), blood vessels and cortical collecting ducts") AnnotationAssertion( "abnormal renal cortex morphology") -AnnotationAssertion( "kidney cortex dysplasia") +AnnotationAssertion( "kidney cortex dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000521") AnnotationAssertion(rdfs:label "abnormal kidney cortex morphology") @@ -20192,12 +20192,12 @@ AnnotationAssertion( "hand and/or foot anomaly") AnnotationAssertion( "Fyler:4170") AnnotationAssertion( "abnormal paw/hand/foot morphology") -AnnotationAssertion( "paw/hand/foot dysplasia") AnnotationAssertion( "abnormal foot morphology") AnnotationAssertion( "abnormal hand morphology") AnnotationAssertion( "abnormal paw morphology") AnnotationAssertion( "abnormal paws") AnnotationAssertion( "paw abnormalities") +AnnotationAssertion( "paw/hand/foot dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000572") AnnotationAssertion( ) @@ -20585,7 +20585,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:10906459") "any structural anomaly of the saliva-secreting glands of the oral cavity") AnnotationAssertion( "abnormal salivary glands") -AnnotationAssertion( "salivary gland dysplasia") +AnnotationAssertion( "salivary gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000613") AnnotationAssertion(rdfs:label "abnormal salivary gland morphology") @@ -20606,7 +20606,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "PMID:11002344") "any structural anomaly of the salivary gland of the hard palate") AnnotationAssertion( "abnormal glandulae palatinae morphology") -AnnotationAssertion( "palatine gland dysplasia") +AnnotationAssertion( "palatine gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000615") AnnotationAssertion(rdfs:label "abnormal palatine gland morphology") @@ -20727,7 +20727,7 @@ AnnotationAssertion(Annotation( "abnormal glandula mammaria morphology") AnnotationAssertion( "abnormal lactiferous gland morphology") AnnotationAssertion( "abnormal mammary glands") -AnnotationAssertion( "mammary gland dysplasia") +AnnotationAssertion( "mammary gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal Brustdruese morphology") AnnotationAssertion( "abnormal dug morphology") @@ -20826,7 +20826,7 @@ AnnotationAssertion( "abnormal epiphysis cerebri morphology") AnnotationAssertion( "abnormal glandula pinealis morphology") AnnotationAssertion( "abnormal pineal body morphology") -AnnotationAssertion( "pineal gland dysplasia") +AnnotationAssertion( "pineal gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000632") AnnotationAssertion(rdfs:label "abnormal pineal gland morphology") @@ -20839,7 +20839,7 @@ AnnotationAssertion(Annotation( "abnormal pituitary glands") AnnotationAssertion( "abnormal hypophysis morphology") AnnotationAssertion( "abnormal pituitary morphology") -AnnotationAssertion( "pituitary gland dysplasia") +AnnotationAssertion( "pituitary gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000633") AnnotationAssertion(rdfs:label "abnormal pituitary gland morphology") @@ -20893,7 +20893,7 @@ AnnotationAssertion( "abnormal adrenal morphology") AnnotationAssertion( "abnormal suprarenal body morphology") AnnotationAssertion( "abnormal suprarenal gland morphology") -AnnotationAssertion( "adrenal gland dysplasia") +AnnotationAssertion( "adrenal gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000639") AnnotationAssertion(rdfs:label "abnormal adrenal gland morphology") @@ -21177,7 +21177,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of any of the coil glands of the skin that secrete sweat") AnnotationAssertion( "abnormal sweat glands") -AnnotationAssertion( "sweat gland dysplasia") +AnnotationAssertion( "sweat gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000674") AnnotationAssertion(rdfs:label "abnormal sweat gland morphology") @@ -21270,7 +21270,7 @@ AnnotationAssertion(Annotation( "immune system abnormalities") AnnotationAssertion( "lymphoid system abnormalities") AnnotationAssertion( "lymphopoietic system abnormalities") -AnnotationAssertion( "immune system dysplasia") +AnnotationAssertion( "immune system dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000685") AnnotationAssertion(rdfs:label "abnormal immune system morphology") @@ -21960,7 +21960,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc.") AnnotationAssertion( "smooth muscle abnormalities") -AnnotationAssertion( "smooth muscle dysplasia") +AnnotationAssertion( "smooth muscle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000767") AnnotationAssertion(rdfs:label "abnormal smooth muscle morphology") @@ -22050,7 +22050,7 @@ AnnotationAssertion(owl:deprecated " # Class: (abnormal corpus callosum morphology) AnnotationAssertion(Annotation( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres") -AnnotationAssertion( "corpus callosum dysplasia") +AnnotationAssertion( "corpus callosum dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000780") AnnotationAssertion(rdfs:label "abnormal corpus callosum morphology") @@ -22115,7 +22115,7 @@ SubClassOf( ) "any structural anomaly of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon") AnnotationAssertion( "MP:0000782") -AnnotationAssertion( "telencephalon dysplasia") +AnnotationAssertion( "telencephalon dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000787") AnnotationAssertion(rdfs:label "abnormal telencephalon morphology") @@ -22177,7 +22177,7 @@ SubClassOf( (abnormal parietal lobe morphology) AnnotationAssertion(Annotation( "MESH:A08.186.211.730.885.287.500.670") "any structural anomaly of the upper central part of the cerebral hemisphere") -AnnotationAssertion( "parietal lobe dysplasia") +AnnotationAssertion( "parietal lobe dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000794") AnnotationAssertion(rdfs:label "abnormal parietal lobe morphology") @@ -22213,7 +22213,7 @@ SubClassOf( (abnormal frontal lobe morphology) AnnotationAssertion(Annotation( "MESH:A08.186.211.730.885.287.500.270") "any structural anomaly of the anterior part of the cerebral hemisphere") -AnnotationAssertion( "frontal lobe dysplasia") +AnnotationAssertion( "frontal lobe dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000798") AnnotationAssertion(rdfs:label "abnormal frontal lobe morphology") @@ -22243,7 +22243,7 @@ SubClassOf( (abnormal temporal lobe morphology) AnnotationAssertion(Annotation( "MESH:A08.186.211.730.885.287.500.863") "any structural anomaly of the lower lateral part of the cerebral hemisphere") -AnnotationAssertion( "temporal lobe dysplasia") +AnnotationAssertion( "temporal lobe dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000801") AnnotationAssertion(rdfs:label "abnormal temporal lobe morphology") @@ -22274,7 +22274,7 @@ SubClassOf( (abnormal occipital lobe morphology) AnnotationAssertion(Annotation( "MESH:A08.186.211.730.885.287.500.571") "any structural anomaly of the posterior part of the cerebral hemisphere") -AnnotationAssertion( "occipital lobe dysplasia") +AnnotationAssertion( "occipital lobe dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000804") AnnotationAssertion(rdfs:label "abnormal occipital lobe morphology") @@ -22284,8 +22284,8 @@ SubClassOf( "MESH:A08.186.211.730.885.287.500.571.735") "any structural anomaly of the area of the occipital cortex concerned with vision") AnnotationAssertion( "abnormal striate cortex morphology") -AnnotationAssertion( "striate cortex dysplasia") -AnnotationAssertion( "visual cortex dysplasia") +AnnotationAssertion( "striate cortex dysplasia") +AnnotationAssertion( "visual cortex dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000805") AnnotationAssertion(rdfs:label "abnormal visual cortex morphology") @@ -22349,7 +22349,7 @@ AnnotationAssertion(Annotation( "abnormal area dentata morphology") AnnotationAssertion( "abnormal dentate gyrus of hippocampal formation morphology") AnnotationAssertion( "abnormal fascia dentata morphology") -AnnotationAssertion( "dentate gyrus dysplasia") +AnnotationAssertion( "dentate gyrus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000812") AnnotationAssertion( ) @@ -22430,7 +22430,7 @@ SubClassOf( (abnormal choroid plexus morphology) AnnotationAssertion(Annotation( ) Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:9362461") Annotation( "http://medical-dictionary.thefreedictionary.com/plexus") "any structural anomaly of the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain; choroid plexuses secrete cerebrospinal fluid (CSF) and act as a filtration system, removing metabolic waste, foreign substances, and excess neurotransmitters from the CSF") -AnnotationAssertion( "choroid plexus dysplasia") +AnnotationAssertion( "choroid plexus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000820") AnnotationAssertion(rdfs:label "abnormal choroid plexus morphology") @@ -22451,7 +22451,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord") AnnotationAssertion( "abnormal ventricle") AnnotationAssertion( "abnormal cerebral ventricle morphology") -AnnotationAssertion( "brain ventricle dysplasia") +AnnotationAssertion( "brain ventricle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000822") AnnotationAssertion(rdfs:label "abnormal brain ventricle morphology") @@ -22563,7 +22563,7 @@ AnnotationAssertion(Annotation( "abnormal betweenbrain morphology") AnnotationAssertion( "abnormal interbrain morphology") AnnotationAssertion( "abnormal thalamencephalon morphology") -AnnotationAssertion( "diencephalon dysplasia") +AnnotationAssertion( "diencephalon dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000830") AnnotationAssertion(rdfs:label "abnormal diencephalon morphology") @@ -22605,8 +22605,8 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "MESH:A08.186.211.730.317.800") "any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis") AnnotationAssertion( "abnormal ventral thalamus") -AnnotationAssertion( "subthalamus dysplasia") -AnnotationAssertion( "ventral thalamus dysplasia") +AnnotationAssertion( "subthalamus dysplasia") +AnnotationAssertion( "ventral thalamus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000834") AnnotationAssertion(rdfs:label "abnormal subthalamus morphology") @@ -22638,7 +22638,7 @@ SubClassOf( (abnormal hypothalamus morphology) AnnotationAssertion(Annotation( "MESH:A08.186.211.464.482") "any structural anomaly of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release") -AnnotationAssertion( "hypothalamus dysplasia") +AnnotationAssertion( "hypothalamus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000837") AnnotationAssertion(rdfs:label "abnormal hypothalamus morphology") @@ -22719,8 +22719,8 @@ SubClassOf( "ISBN:0838580343") "any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate") AnnotationAssertion( "MP:0000845") AnnotationAssertion( "abnormal myelencephalon morphology") -AnnotationAssertion( "medulla oblongata dysplasia") -AnnotationAssertion( "myelencephalon dysplasia") +AnnotationAssertion( "medulla oblongata dysplasia") +AnnotationAssertion( "myelencephalon dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000846") AnnotationAssertion(rdfs:label "abnormal medulla oblongata morphology") @@ -22736,7 +22736,7 @@ AnnotationAssertion( "abnormal epencephalon morphology") AnnotationAssertion( "abnormal rostral hindbrain morphology") AnnotationAssertion( "abnormal rostral rhombencephalon morphology") -AnnotationAssertion( "metencephalon dysplasia") +AnnotationAssertion( "metencephalon dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000847") AnnotationAssertion(rdfs:label "abnormal metencephalon morphology") @@ -23628,7 +23628,7 @@ AnnotationAssertion(Annotation( "abnormal motor neurons") AnnotationAssertion( "motor neuron abnormalities") AnnotationAssertion( "abnormal motoneuron morphology") -AnnotationAssertion( "motor neuron dysplasia") +AnnotationAssertion( "motor neuron dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000937") AnnotationAssertion(rdfs:label "abnormal motor neuron morphology") @@ -23787,7 +23787,7 @@ SubClassOf( ) "any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris") AnnotationAssertion( "spinal cord abnormalities") -AnnotationAssertion( "spinal cord dysplasia") +AnnotationAssertion( "spinal cord dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000955") AnnotationAssertion(rdfs:label "abnormal spinal cord morphology") @@ -24208,7 +24208,7 @@ AnnotationAssertion( "abnormal capsula articularis morphology") AnnotationAssertion( "abnormal joint capsule morphology") AnnotationAssertion( "abnormal joint fibrous capsule morphology") -AnnotationAssertion( "joint capsule dysplasia") +AnnotationAssertion( "joint capsule dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0000997") AnnotationAssertion(rdfs:label "abnormal synovial joint capsule morphology") @@ -24453,12 +24453,12 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( ) "any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fourth lumbar vertebra") AnnotationAssertion( "MP:0006406") AnnotationAssertion( "abnormal L4 dorsal root ganglia") -AnnotationAssertion( "L4 ganglion dysplasia") AnnotationAssertion( "abnormal L4 DRG morphology") AnnotationAssertion( "abnormal L4 ganglion morphology") AnnotationAssertion( "abnormal L4 sympathetic ganglia morphology") AnnotationAssertion( "abnormal L4 sympathetic ganglion morphology") AnnotationAssertion( "L4 dorsal root ganglion dysplasia") +AnnotationAssertion( "L4 ganglion dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001019") AnnotationAssertion(rdfs:label "abnormal L4 dorsal root ganglion morphology") @@ -24810,7 +24810,7 @@ SubClassOf( ) Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:9362461") "any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves") AnnotationAssertion( "abnormal cranial nerves") AnnotationAssertion( "cranial nerve abnormalities") -AnnotationAssertion( "cranial nerve dysplasia") +AnnotationAssertion( "cranial nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001056") AnnotationAssertion(rdfs:label "abnormal cranial nerve morphology") @@ -24927,8 +24927,8 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(Annotation( "MESH:A08.800.800.120.030") Annotation( "MGI:cwg") "any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye") AnnotationAssertion( "abducens nerve abnormalities") -AnnotationAssertion( "abducens nerve dysplasia") AnnotationAssertion( "abnormal CN-VI morphology") +AnnotationAssertion( "abducens nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001070") AnnotationAssertion(rdfs:label "abnormal abducens nerve morphology") @@ -24939,7 +24939,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "ISBN:0838580343") Annotation( "PMID:7477377") "any structural anomaly of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue; principal branches are the superficial opthalmic, buccal, palatine and hyomandibular") AnnotationAssertion( "facial nerve abnormalities") AnnotationAssertion( "abnormal CN-VII morphology") -AnnotationAssertion( "facial nerve dysplasia") +AnnotationAssertion( "facial nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001071") AnnotationAssertion(rdfs:label "abnormal facial nerve morphology") @@ -24981,7 +24981,7 @@ AnnotationAssertion(Annotation( "vagus nerve abnormalities") AnnotationAssertion( "abnormal CN-X morphology") AnnotationAssertion( "abnormal vagal nerve morphology") -AnnotationAssertion( "vagus nerve dysplasia") +AnnotationAssertion( "vagus nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001074") AnnotationAssertion(rdfs:label "abnormal vagus nerve morphology") @@ -24993,8 +24993,8 @@ AnnotationAssertion(Annotation( "spinal accessory nerve abnormalities") AnnotationAssertion( "abnormal CN-XI morphology") AnnotationAssertion( "abnormal spinal accessory nerve morphology") -AnnotationAssertion( "accessory nerve dysplasia") -AnnotationAssertion( "spinal accessory nerve dysplasia") +AnnotationAssertion( "accessory nerve dysplasia") +AnnotationAssertion( "spinal accessory nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001075") AnnotationAssertion(rdfs:label "abnormal accessory nerve morphology") @@ -25016,7 +25016,7 @@ SubClassOf( "MESH:A08.800.800.720") "any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment") AnnotationAssertion( "abnormal spinal nerves") AnnotationAssertion( "spinal nerve abnormalities") -AnnotationAssertion( "spinal nerve dysplasia") +AnnotationAssertion( "spinal nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001077") AnnotationAssertion(rdfs:label "abnormal spinal nerve morphology") @@ -25025,7 +25025,7 @@ SubClassOf( (abnormal phrenic nerve morphology) AnnotationAssertion(Annotation( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of motor, sensory and sympathetic neuron axons that project to the diaphragm and other tissues") -AnnotationAssertion( "phrenic nerve dysplasia") +AnnotationAssertion( "phrenic nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001078") AnnotationAssertion(rdfs:label "abnormal phrenic nerve morphology") @@ -25055,7 +25055,7 @@ SubClassOf( ) Annotation( "ISBN:0-683-40008-8") Annotation( "PMID:9362461") "any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves") AnnotationAssertion( "cranial ganglia abnormalities") -AnnotationAssertion( "cranial ganglia dysplasia") +AnnotationAssertion( "cranial ganglia dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001081") AnnotationAssertion(rdfs:label "abnormal cranial ganglia morphology") @@ -25133,7 +25133,7 @@ AnnotationAssertion( "abnormal inferior vagus ganglion morphology") AnnotationAssertion( "abnormal inferior vagus ganglion of the vagus (X) nerve morphology") AnnotationAssertion( "abnormal nodose ganglia morphology") -AnnotationAssertion( "nodose ganglion dysplasia") +AnnotationAssertion( "nodose ganglion dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001087") AnnotationAssertion(rdfs:label "abnormal nodose ganglion morphology") @@ -25282,8 +25282,8 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve") AnnotationAssertion( "abnormal cranial ganglion X morphology") AnnotationAssertion( "abnormal vagus ganglia morphology") -AnnotationAssertion( "vagus ganglia dysplasia") -AnnotationAssertion( "vagus ganglion dysplasia") +AnnotationAssertion( "vagus ganglia dysplasia") +AnnotationAssertion( "vagus ganglion dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001100") AnnotationAssertion(rdfs:label "abnormal vagus ganglion morphology") @@ -26562,8 +26562,8 @@ AnnotationAssertion(Annotation( "abnormal cornified layer morphology") AnnotationAssertion( "abnormal horny layer morphology") AnnotationAssertion( "abnormal stratum corneum morphology") -AnnotationAssertion( "cornified layer dysplasia") -AnnotationAssertion( "epidermis stratum corneum dysplasia") +AnnotationAssertion( "cornified layer dysplasia") +AnnotationAssertion( "epidermis stratum corneum dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001240") AnnotationAssertion(rdfs:label "abnormal epidermis stratum corneum morphology") @@ -26607,7 +26607,7 @@ AnnotationAssertion(Annotation( "abnormal corium morphology") AnnotationAssertion( "abnormal cutis vera morphology") AnnotationAssertion( "abnormal dermis morphology") -AnnotationAssertion( "dermal layer dysplasia") +AnnotationAssertion( "dermal layer dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001243") AnnotationAssertion(rdfs:label "abnormal dermal layer morphology") @@ -27302,7 +27302,7 @@ SubClassOf( ) Annotation( "MESH:A09.371.060.200") "any structural anomaly of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball") AnnotationAssertion( "conjunctiva abnormalities") -AnnotationAssertion( "conjunctival dysplasia") +AnnotationAssertion( "conjunctival dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001310") AnnotationAssertion(rdfs:label "abnormal conjunctiva morphology") @@ -27518,7 +27518,7 @@ AnnotationAssertion( "optic nerve abnormalities") AnnotationAssertion( "abnormal CN-II morphology") AnnotationAssertion( "abnormal optic II nerve morphology") -AnnotationAssertion( "optic nerve dysplasia") +AnnotationAssertion( "optic nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001330") AnnotationAssertion(rdfs:label "abnormal optic nerve morphology") @@ -27664,7 +27664,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "MGI:tc") "any structural anomaly of the glands that secrete tears") AnnotationAssertion( "MP:0000682") AnnotationAssertion( "abnormal lachrymal glands morphology") -AnnotationAssertion( "lacrimal gland dysplasia") +AnnotationAssertion( "lacrimal gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001346") AnnotationAssertion(rdfs:label "abnormal lacrimal gland morphology") @@ -29819,7 +29819,7 @@ AnnotationAssertion( "abnormal inter-mandibular joint morphology") AnnotationAssertion( "abnormal intermandibular joint morphology") AnnotationAssertion( "abnormal symphysis menti morphology") -AnnotationAssertion( "symphysis menti dysplasia") +AnnotationAssertion( "symphysis menti dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal mental symphysis morphology") AnnotationAssertion( "abnormal symphysis mandibulae morphology") @@ -30489,7 +30489,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "PMID:9144284") "any structural anomaly of the connective stalk between the fetus and the placenta") AnnotationAssertion( "abnormal chorda umbilicalis morphology") AnnotationAssertion( "abnormal funiculus umbilicalis morphology") -AnnotationAssertion( "umbilical cord dysplasia") +AnnotationAssertion( "umbilical cord dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0001725") AnnotationAssertion(rdfs:label "abnormal umbilical cord morphology") @@ -33409,8 +33409,8 @@ AnnotationAssertion( "abnormal gonecyst morphology") AnnotationAssertion( "abnormal seminal gland morphology") AnnotationAssertion( "abnormal seminal vesicles morphology") -AnnotationAssertion( "seminal gland dysplasia") -AnnotationAssertion( "seminal vesicle dysplasia") +AnnotationAssertion( "seminal gland dysplasia") +AnnotationAssertion( "seminal vesicle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002059") AnnotationAssertion(rdfs:label "abnormal seminal vesicle morphology") @@ -34147,7 +34147,7 @@ SubClassOf( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the articulated bones of the cranium and vertebral column") AnnotationAssertion( "skeletal: axial defects") AnnotationAssertion( "MGI:2173562") -AnnotationAssertion( "axial skeletal dysplasia") +AnnotationAssertion( "axial skeletal dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002114") AnnotationAssertion(rdfs:label "abnormal axial skeleton morphology") @@ -34270,9 +34270,9 @@ AnnotationAssertion( "cardiovascular system abnormalities") AnnotationAssertion( "cardiovascular system defects") AnnotationAssertion( "MGI:2173587") -AnnotationAssertion( "cardiovascular dysplasia") -AnnotationAssertion( "cardiovascular system dysplasia") -AnnotationAssertion( "heart/cardiovascular system: dysmorphology") +AnnotationAssertion( "cardiovascular dysplasia") +AnnotationAssertion( "cardiovascular system dysplasia") +AnnotationAssertion( "heart/cardiovascular system: dysmorphology") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002127") AnnotationAssertion(rdfs:label "abnormal cardiovascular system morphology") @@ -35281,7 +35281,7 @@ SubClassOf( "MGI:cwg") "any structural anomaly of the anterior opening to the nasal cavity") AnnotationAssertion( "abnormal anterior nares morphology") AnnotationAssertion( "abnormal nostril morphology") -AnnotationAssertion( "external nares dysplasia") +AnnotationAssertion( "external nares dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002235") AnnotationAssertion(rdfs:label "abnormal external nares morphology") @@ -35292,7 +35292,7 @@ SubClassOf( "MGI:cwg") "any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx") AnnotationAssertion( "abnormal choanae morphology") AnnotationAssertion( "abnormal posterior nares morphology") -AnnotationAssertion( "internal nares dysplasia") +AnnotationAssertion( "internal nares dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002236") AnnotationAssertion(rdfs:label "abnormal internal nares morphology") @@ -35319,7 +35319,7 @@ SubClassOf( "MESH:A04.760.600") Annotation( "MGI:cwg") "any structural anomaly of the mucous membrane that lines the nasal cavity") AnnotationAssertion( "MP:0001112") AnnotationAssertion( "abnormal nasal mucous membrane") -AnnotationAssertion( "nasal mucosa dysplasia") +AnnotationAssertion( "nasal mucosa dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002238") AnnotationAssertion(rdfs:label "abnormal nasal mucosa morphology") @@ -35330,7 +35330,7 @@ SubClassOf( (abnormal nasal septum morphology) AnnotationAssertion(Annotation( ) Annotation( "MESH:A04.531.591") Annotation( "http://www.medicinenet.com/script/main/art.asp?articlekey=13720") "any structural anomaly of the dividing wall that runs down the midline of the nose separating the two nasal cavities, each of which ends in a nostril; it is formed by the septal nasal cartilage, parts of skull bones (ethmoid bone; vomer), and membranous parts") -AnnotationAssertion( "nasal septum dysplasia") +AnnotationAssertion( "nasal septum dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002239") AnnotationAssertion(rdfs:label "abnormal nasal septum morphology") @@ -35340,7 +35340,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity") AnnotationAssertion( "abnormal paranasal sinuses morphology") -AnnotationAssertion( "paranasal sinus dysplasia") +AnnotationAssertion( "paranasal sinus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002240") AnnotationAssertion(rdfs:label "abnormal paranasal sinus morphology") @@ -35399,7 +35399,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses") AnnotationAssertion( "abnormal ethmoid air cell morphology") AnnotationAssertion( "abnormal ethmoid cell morphology") -AnnotationAssertion( "ethmoid sinus dysplasia") +AnnotationAssertion( "ethmoid sinus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002245") AnnotationAssertion(rdfs:label "abnormal ethmoid sinus morphology") @@ -35408,7 +35408,7 @@ SubClassOf( (abnormal frontal sinus morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the lower part of the squama of the frontal bones") -AnnotationAssertion( "frontal sinus dysplasia") +AnnotationAssertion( "frontal sinus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002246") AnnotationAssertion(rdfs:label "abnormal frontal sinus morphology") @@ -35421,7 +35421,7 @@ AnnotationAssertion( "abnormal genyantrum morphology") AnnotationAssertion( "abnormal maxillary antra morphology") AnnotationAssertion( "abnormal maxillary antrum morphology") -AnnotationAssertion( "maxillary sinus dysplasia") +AnnotationAssertion( "maxillary sinus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002247") AnnotationAssertion(rdfs:label "abnormal maxillary sinus morphology") @@ -35431,7 +35431,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "https://www.dartmouth.edu/~humananatomy/part_8/chapter_52.html") Annotation( "https://www.healthline.com/human-body-maps/sphenoid-sinus") "any structural anomaly of the most posterior paranasal sinus located in the sphenoid bone near the optic nerve and the pituitary gland on the side of the skull; it drains into the sphenoethmoidal recess superior to the superior concha; the sinus is divided into right and left parts by a bony septum") AnnotationAssertion( "abnormal sphenoidal sinus morphology") -AnnotationAssertion( "sphenoid sinus dysplasia") +AnnotationAssertion( "sphenoid sinus dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002248") AnnotationAssertion(rdfs:label "abnormal sphenoid sinus morphology") @@ -36574,7 +36574,7 @@ AnnotationAssertion(owl:deprecated " # Class: (abnormal thymus lobule morphology) AnnotationAssertion(Annotation( "ISBN:0-397-51047-0") Annotation( "MGI:cwg") "any structural anomaly of the basic structural unit of the thymus") -AnnotationAssertion( "thymus lobule dysplasia") +AnnotationAssertion( "thymus lobule dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002367") AnnotationAssertion(rdfs:label "abnormal thymus lobule morphology") @@ -36583,7 +36583,7 @@ SubClassOf( (abnormal thymus capsule morphology) AnnotationAssertion(Annotation( "MGI:cwg") "any structural anomaly of the fibrous connective tissue surrounding the thymus") -AnnotationAssertion( "thymus capsule dysplasia") +AnnotationAssertion( "thymus capsule dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002368") AnnotationAssertion(rdfs:label "abnormal thymus capsule morphology") @@ -36611,7 +36611,7 @@ SubClassOf( (abnormal thymus cortex morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes") -AnnotationAssertion( "thymus cortex dysplasia") +AnnotationAssertion( "thymus cortex dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002371") AnnotationAssertion(rdfs:comment "The thymic cortex contains immature thymocytes, cortical epithelial cells, and scattered macrophages.") @@ -36637,7 +36637,7 @@ AnnotationAssertion(owl:deprecated " # Class: (abnormal thymus medulla morphology) AnnotationAssertion(Annotation( "ISBN:0-8153-1691-7") Annotation( "MGI:cwg") "any structural anomaly of the inner area of thymus lobules") -AnnotationAssertion( "thymus medulla dysplasia") +AnnotationAssertion( "thymus medulla dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002375") AnnotationAssertion(rdfs:comment "The thymic medulla contains mature thymocytes, medulla epithelial cells, macrophages and dendritic cells.") @@ -40019,8 +40019,8 @@ SubClassOf( ) "any structural anomaly of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule") AnnotationAssertion( "abnormal kidney tubule morphology") AnnotationAssertion( "abnormal renal tubules morphology") -AnnotationAssertion( "kidney tubule dysplasia") -AnnotationAssertion( "renal tubule dysplasia") +AnnotationAssertion( "kidney tubule dysplasia") +AnnotationAssertion( "renal tubule dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002703") AnnotationAssertion(rdfs:label "abnormal renal tubule morphology") @@ -40463,7 +40463,7 @@ AnnotationAssertion(Annotation( "abnormal left semi-lunar valve morphology") AnnotationAssertion(Annotation( "https://www.kenhub.com/en/library/anatomy/aortic-valve") "abnormal left semilunar valve morphology") AnnotationAssertion(Annotation( "https://www.kenhub.com/en/library/anatomy/aortic-valve") "abnormal left ventriculoarterial junction morphology") -AnnotationAssertion( "aortic valve dysplasia") +AnnotationAssertion( "aortic valve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002747") AnnotationAssertion( ) @@ -40726,7 +40726,7 @@ SubClassOf( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct") AnnotationAssertion( "abnormal ductus deferens morphology") -AnnotationAssertion( "vas deferens dysplasia") +AnnotationAssertion( "vas deferens dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0002769") AnnotationAssertion(rdfs:label "abnormal vas deferens morphology") @@ -49507,8 +49507,6 @@ AnnotationAssertion( "GO:0007417") AnnotationAssertion( "MGI:2173613") AnnotationAssertion( "MGI:2173617") -AnnotationAssertion( "nervous system dysplasia") -AnnotationAssertion( "neurologic malformation") AnnotationAssertion( "abnormal central nervous system morphology") AnnotationAssertion( "abnormal peripheral nervous system") AnnotationAssertion( "abnormal peripheral nervous system morphology") @@ -49522,6 +49520,8 @@ AnnotationAssertion( "peripheral nervous system anomaly") AnnotationAssertion( "peripheral nervous system defects") AnnotationAssertion( "peripheral nervous system: dysmorphology") +AnnotationAssertion( "nervous system dysplasia") +AnnotationAssertion( "neurologic malformation") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0003632") AnnotationAssertion( ) @@ -54108,8 +54108,8 @@ SubClassOf( ) "any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated") AnnotationAssertion( "abnormal muscle fibre morphology") -AnnotationAssertion( "muscle fiber dysplasia") -AnnotationAssertion( "muscle fibre dysplasia") +AnnotationAssertion( "muscle fiber dysplasia") +AnnotationAssertion( "muscle fibre dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0004087") AnnotationAssertion(rdfs:label "abnormal muscle fiber morphology") @@ -58487,7 +58487,7 @@ SubClassOf( "MGI:cwg") "any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton") AnnotationAssertion( "abnormal shoulder bone morphology") AnnotationAssertion( "abnormal shoulder girdle morphology") -AnnotationAssertion( "shoulder bone dysplasia") +AnnotationAssertion( "shoulder bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0004508") AnnotationAssertion(rdfs:label "abnormal pectoral girdle bone morphology") @@ -64587,7 +64587,7 @@ SubClassOf( (abnormal biliary tract morphology) AnnotationAssertion(Annotation( "MESH:A03.159") "any structural anomaly of the gall bladder or its bile ducts") -AnnotationAssertion( "biliary tract dysplasia") +AnnotationAssertion( "biliary tract dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005083") AnnotationAssertion(rdfs:label "abnormal biliary tract morphology") @@ -64597,7 +64597,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "MESH:A03.159.439") "any structural anomaly of the organ which serves as a storage reservoir for bile") AnnotationAssertion( "gallbladder abnormalities") -AnnotationAssertion( "gall bladder dysplasia") +AnnotationAssertion( "gall bladder dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal cholecyst morphology") AnnotationAssertion( "MP:0005084") @@ -64859,7 +64859,7 @@ SubClassOf( "ISBN:0-683-40008-8") Annotation( "ISBN:978-0028454405") "any structural anomaly of any of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones") AnnotationAssertion( "abnormal tarsals morphology") AnnotationAssertion( "abnormal tarsus morphology") -AnnotationAssertion( "tarsal bone dysplasia") +AnnotationAssertion( "tarsal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005104") AnnotationAssertion(rdfs:comment "Note that humans only have seven tarsal bones, while rodents have eight. The tibiale is not present in humans.") @@ -65411,9 +65411,9 @@ SubClassOf( (abnormal gubernaculum morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus") +AnnotationAssertion( "abnormal gubernaculae") AnnotationAssertion( "abnormal caudal suspensory ligament morphology") -AnnotationAssertion( "abnormal gubernaculae") -AnnotationAssertion( "gubernaculum dysplasia") +AnnotationAssertion( "gubernaculum dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005149") AnnotationAssertion(rdfs:label "abnormal gubernaculum morphology") @@ -66350,7 +66350,7 @@ AnnotationAssertion(Annotation( "MP:0001057") AnnotationAssertion( "olfactory nerve abnormalities") AnnotationAssertion( "abnormal CN-I morphology") -AnnotationAssertion( "olfactory nerve dysplasia") +AnnotationAssertion( "olfactory nerve dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005236") AnnotationAssertion(rdfs:label "abnormal olfactory nerve morphology") @@ -66486,8 +66486,8 @@ SubClassOf( (abnormal Harderian gland morphology) AnnotationAssertion(Annotation( "ISBN:0486631850") Annotation( "PMID:8843648") "any structural anomaly of the retroocular sebaceous gland found within the orbit of mammals that possess a nictitating membrane (third eyelid); the chief products of the gland vary between different groups of vertebrates, and epithelial cells possess granules or vacuoles whose contents may be mucous, serous or lipid; in rodents, the Harderian gland is especially large and secretes lipids (by a merocrine mechanism), melatonin and porphyrins; ascribed functions include a role in lubrication and protection for the eyeball and nictitating membrane (by lipids), photoprotection (by porphyrin), photoreception (by regulation of the incidence of light on the retina), and thermoregulation (in some rodents) of the sebaceous gland located behind the eyeball that excretes fluid that facilitates movement of the nictitating membrane") -AnnotationAssertion( "Harderian gland abnormalities") -AnnotationAssertion( "Harderian gland dysplasia") +AnnotationAssertion( "Harderian gland abnormalities") +AnnotationAssertion( "Harderian gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005248") AnnotationAssertion(rdfs:comment "The Harderian gland does not normally exist in some types of mammals (bats, cows and horses), terrestrial carnivores, and higher primates including human.") @@ -66531,7 +66531,7 @@ SubClassOf( (abnormal Meibomian gland morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid") -AnnotationAssertion( "meibomian gland dysplasia") +AnnotationAssertion( "meibomian gland dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal tarsal gland") AnnotationAssertion( "MP:0005252") @@ -66681,7 +66681,7 @@ SubClassOf( (abnormal occipital bone morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the bone at the lower, posterior part of the skull") -AnnotationAssertion( "occipital bone dysplasia") +AnnotationAssertion( "occipital bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005269") AnnotationAssertion(rdfs:comment "The basioccipital, exoccipital and supraoccipital bones are distinct bones in prenatal, neonatal and some early juvenile stages in most mammals. In adult organisms, these structures are fused to form the unified adult occipital bone. This term refers to the adult mammalian structure.") @@ -66695,7 +66695,7 @@ AnnotationAssertion( "abnormal jugal bone morphology") AnnotationAssertion( "abnormal malar bone morphology") AnnotationAssertion( "abnormal yoke bone morphology") -AnnotationAssertion( "zygomatic bone dysplasia") +AnnotationAssertion( "zygomatic bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005270") AnnotationAssertion( ) @@ -66706,7 +66706,7 @@ SubClassOf( (abnormal lacrimal bone morphology) AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla") -AnnotationAssertion( "lacrimal bone dysplasia") +AnnotationAssertion( "lacrimal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005271") AnnotationAssertion(rdfs:label "abnormal lacrimal bone morphology") @@ -66716,7 +66716,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous") AnnotationAssertion( "abnormal squamosal bone morphology") -AnnotationAssertion( "temporal bone dysplasia") +AnnotationAssertion( "temporal bone dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005272") AnnotationAssertion(rdfs:label "abnormal temporal bone morphology") @@ -66726,7 +66726,7 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the part of the skull that comprises the facial bones") AnnotationAssertion( "abnormal facial bones morphology") -AnnotationAssertion( "viscerocranium dysplasia") +AnnotationAssertion( "viscerocranium dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005274") AnnotationAssertion(rdfs:label "abnormal viscerocranium morphology") @@ -66940,7 +66940,7 @@ SubClassOf( "MESH:A07.541.560") Annotation( "MGI:cwg") "any structural anomaly of one or both of the two lower chambers of the heart") AnnotationAssertion( "ventricular dysplasia") -AnnotationAssertion( "heart ventricle dysplasia") +AnnotationAssertion( "heart ventricle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0005294") AnnotationAssertion(rdfs:label "abnormal heart ventricle morphology") @@ -74143,7 +74143,7 @@ SubClassOf( (abnormal perichondrium morphology) AnnotationAssertion(Annotation( ) Annotation( "ISBN:0803606559") "any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage") -AnnotationAssertion( "perichondrium dysplasia") +AnnotationAssertion( "perichondrium dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0006322") AnnotationAssertion(rdfs:label "abnormal perichondrium morphology") @@ -86267,7 +86267,7 @@ SubClassOf( (abnormal granulosa cell morphology) AnnotationAssertion(Annotation( "MESH:A.05.360.319.114.630.535.200") "any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle") -AnnotationAssertion( "granulosa cell dysplasia") +AnnotationAssertion( "granulosa cell dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0008868") AnnotationAssertion(rdfs:label "abnormal granulosa cell morphology") @@ -86663,7 +86663,7 @@ AnnotationAssertion( "abnormal perirenal fat capsule morphology") AnnotationAssertion( "abnormal perirenal fat morphology") AnnotationAssertion( "abnormal perirenal fat pad morphology") -AnnotationAssertion( "renal fat pad dysplasia") +AnnotationAssertion( "renal fat pad dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal fatty capsule of kidney morphology") AnnotationAssertion( "abnormal renal fat depot morphology") @@ -86685,7 +86685,7 @@ SubClassOf( (abnormal mammary fat pad morphology) AnnotationAssertion(Annotation( ) "any structural anomaly of the encapsulated adipose tissue associated with the mammary gland") -AnnotationAssertion( "mammary fat pad dysplasia") +AnnotationAssertion( "mammary fat pad dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "abnormal mammary fat depot morphology") AnnotationAssertion( "MP:0008904") @@ -86696,7 +86696,7 @@ SubClassOf( ) "any structural anomaly of the encapsulated adipose tissue associated with the femur") AnnotationAssertion( "abnormal femoral fat depot morphology") -AnnotationAssertion( "femoral fat pad dysplasia") +AnnotationAssertion( "femoral fat pad dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0008905") AnnotationAssertion(rdfs:label "abnormal femoral fat pad morphology") @@ -87411,8 +87411,8 @@ SubClassOf( (abnormal ethmoturbinate morphology) AnnotationAssertion(Annotation( ) Annotation( "ISBN:0-683-40008-8") "any structural anomaly of the conchae of the ethmoid bone which occupy the caudal part of the nasal fossae and form the lateral and superior portions of the turbinate bones in mammals") -AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "abnormal ethmoturbinals") -AnnotationAssertion( "ethmoturbinate dysplasia") +AnnotationAssertion(Annotation( "ISBN:0-683-40008-8") "abnormal ethmoturbinals morphology") +AnnotationAssertion( "ethmoturbinate dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0008971") AnnotationAssertion(rdfs:label "abnormal ethmoturbinate morphology") @@ -108420,12 +108420,11 @@ SubClassOf( "ISBN:0-683-40008-8") "any structural anomaly of the involuntary muscle comprising the myocardium of the heart and the walls of the pulmonary veins and superior vena cava; cardiac muscle is striated and multinucleate, and the cardiomyocytes branch and are joined to one another via intercalated discs") AnnotationAssertion( ) -AnnotationAssertion( "csmith") AnnotationAssertion( "2010-10-07T10:28:22Z") AnnotationAssertion( "abnormal cardiac muscle morphology") AnnotationAssertion( "abnormal heart muscle morphology") AnnotationAssertion( "cardiac muscle abnormalities") -AnnotationAssertion( "cardiac muscle dysplasia") +AnnotationAssertion( "cardiac muscle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0010630") AnnotationAssertion(rdfs:comment "Do not confuse cardiac muscle tissue with the myocardium. Myocardium consists primarily of cardiac muscle but these structures are not identical. Cardiac muscle tissue also exists outside the heart so this term has not been made a child of heart myocardial layer directly.") @@ -119145,9 +119144,9 @@ AnnotationAssertion( "2011-10-21T01:55:00Z") AnnotationAssertion( "abnormal cortical lobule morphology") AnnotationAssertion( "abnormal renal lobule morphology") -AnnotationAssertion( "cortical lobule dysplasia") -AnnotationAssertion( "kidney lobule dysplasia") -AnnotationAssertion( "renal lobule dysplasia") +AnnotationAssertion( "cortical lobule dysplasia") +AnnotationAssertion( "kidney lobule dysplasia") +AnnotationAssertion( "renal lobule dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0011382") AnnotationAssertion(rdfs:label "abnormal kidney lobule morphology") @@ -169118,7 +169117,7 @@ AnnotationAssertion( "2017-08-29T10:57:47Z"^^xsd:dateTime) AnnotationAssertion( "facial muscle abnormalities") AnnotationAssertion( "abnormal facial musculature morphology") -AnnotationAssertion( "facial muscle dysplasia") +AnnotationAssertion( "facial muscle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0030039") AnnotationAssertion(rdfs:label "abnormal facial muscle morphology") @@ -174632,7 +174631,7 @@ AnnotationAssertion( "2017-11-23T12:53:57Z"^^xsd:dateTime) AnnotationAssertion( "abnormal cervical muscle morphology") AnnotationAssertion( "abnormal neck musculature morphology") -AnnotationAssertion( "neck muscle dysplasia") +AnnotationAssertion( "neck muscle dysplasia") AnnotationAssertion( "MPheno.ontology") AnnotationAssertion( "MP:0030427") AnnotationAssertion(rdfs:label "abnormal neck muscle morphology")