{'id': 'HP_0030047', 'url': 'http://purl.obolibrary.org/obo/HP_0030047', 'lbl': 'Abnormal lateral ventricle morphology', 'desc': 'label: Abnormal lateral ventricle morphology\ndefinition : A morphological anomaly of the lateral ventricle.\nsynonyms :Abnormality of lateral ventricle\n'}


{'id': 'HP_0030048', 'url': 'http://purl.obolibrary.org/obo/HP_0030048', 'lbl': 'Colpocephaly', 'desc': 'label: Colpocephaly\ndefinition : Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.\nsynonyms :\n'}


{'id': 'HP_0030049', 'url': 'http://purl.obolibrary.org/obo/HP_0030049', 'lbl': 'Brain abscess', 'desc': 'label: Brain abscess\ndefinition : A collection of pus, immune cells, and other material in the brain.\nsynonyms :Brain abscess\n'}


{'id': 'HP_0030050', 'url': 'http://purl.obolibrary.org/obo/HP_0030050', 'lbl': 'Narcolepsy', 'desc': 'label: Narcolepsy\ndefinition : An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.\nsynonyms :\n'}


{'id': 'HP_0030051', 'url': 'http://purl.obolibrary.org/obo/HP_0030051', 'lbl': 'Tip-toe gait', 'desc': 'label: Tip-toe gait\ndefinition : An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.\nsynonyms :Tiptoe gait; Toe walking; Walking on tiptoes\n'}


{'id': 'HP_0030052', 'url': 'http://purl.obolibrary.org/obo/HP_0030052', 'lbl': 'Inguinal freckling', 'desc': 'label: Inguinal freckling\ndefinition : The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.\nsynonyms :Freckles in groin region\n'}


{'id': 'HP_0030053', 'url': 'http://purl.obolibrary.org/obo/HP_0030053', 'lbl': 'Stiff skin', 'desc': 'label: Stiff skin\ndefinition : An induration (hardening) of the skin\nsynonyms :Indurated skin; Stiff skin\n'}


{'id': 'HP_0030054', 'url': 'http://purl.obolibrary.org/obo/HP_0030054', 'lbl': 'Perifollicular fibrosis', 'desc': 'label: Perifollicular fibrosis\ndefinition : Presence of excess fibrous connective tissue surrounding hair follicules.\nsynonyms :\n'}


{'id': 'HP_0030055', 'url': 'http://purl.obolibrary.org/obo/HP_0030055', 'lbl': 'Hyperconvex toenail', 'desc': "label: Hyperconvex toenail\ndefinition : When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.\nsynonyms :\n"}


{'id': 'HP_0030056', 'url': 'http://purl.obolibrary.org/obo/HP_0030056', 'lbl': 'Uncombable hair', 'desc': 'label: Uncombable hair\ndefinition : Hair that is disorderly, stands out from the scalp, and cannot be combed flat.\nsynonyms :Uncombable hair\n'}


{'id': 'HP_0030057', 'url': 'http://purl.obolibrary.org/obo/HP_0030057', 'lbl': 'Autoimmune antibody positivity', 'desc': "label: Autoimmune antibody positivity\ndefinition : The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.\nsynonyms :\n"}


{'id': 'HP_0030058', 'url': 'http://purl.obolibrary.org/obo/HP_0030058', 'lbl': 'Sickled erythrocytes', 'desc': 'label: Sickled erythrocytes\ndefinition : An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).\nsynonyms :\n'}


{'id': 'HP_0030059', 'url': 'http://purl.obolibrary.org/obo/HP_0030059', 'lbl': 'Mitochondrial depletion', 'desc': 'label: Mitochondrial depletion\ndefinition : An abnormal reduction in mitochondrial DNA content of cells.\nsynonyms :\n'}


{'id': 'HP_0030060', 'url': 'http://purl.obolibrary.org/obo/HP_0030060', 'lbl': 'Nervous tissue neoplasm', 'desc': 'label: Nervous tissue neoplasm\ndefinition : A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).\nsynonyms :\n'}


{'id': 'HP_0030061', 'url': 'http://purl.obolibrary.org/obo/HP_0030061', 'lbl': 'Neuroectodermal neoplasm', 'desc': 'label: Neuroectodermal neoplasm\ndefinition : A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.\nsynonyms :\n'}


{'id': 'HP_0030062', 'url': 'http://purl.obolibrary.org/obo/HP_0030062', 'lbl': 'Craniopharyngioma', 'desc': "label: Craniopharyngioma\ndefinition : A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.\nsynonyms :\n"}


{'id': 'HP_0030063', 'url': 'http://purl.obolibrary.org/obo/HP_0030063', 'lbl': 'Neuroepithelial neoplasm', 'desc': 'label: Neuroepithelial neoplasm\ndefinition : A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.\nsynonyms :\n'}


{'id': 'HP_0030064', 'url': 'http://purl.obolibrary.org/obo/HP_0030064', 'lbl': 'Neurocytoma', 'desc': 'label: Neurocytoma\ndefinition : A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.\nsynonyms :\n'}


{'id': 'HP_0030065', 'url': 'http://purl.obolibrary.org/obo/HP_0030065', 'lbl': 'Primitive neuroectodermal tumor', 'desc': 'label: Primitive neuroectodermal tumor\ndefinition : A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.\nsynonyms :Primitive neuroectodermal tumour\n'}


{'id': 'HP_0030066', 'url': 'http://purl.obolibrary.org/obo/HP_0030066', 'lbl': 'Ependymoblastoma', 'desc': 'label: Ependymoblastoma\ndefinition : A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.\nsynonyms :\n'}


{'id': 'HP_0030067', 'url': 'http://purl.obolibrary.org/obo/HP_0030067', 'lbl': 'Peripheral primitive neuroectodermal neoplasm', 'desc': 'label: Peripheral primitive neuroectodermal neoplasm\ndefinition : A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.\nsynonyms :\n'}


{'id': 'HP_0030068', 'url': 'http://purl.obolibrary.org/obo/HP_0030068', 'lbl': 'Olfactory esthesioneuroblastoma', 'desc': 'label: Olfactory esthesioneuroblastoma\ndefinition : A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.\nsynonyms :\n'}


{'id': 'HP_0030069', 'url': 'http://purl.obolibrary.org/obo/HP_0030069', 'lbl': 'Primary central nervous system lymphoma', 'desc': 'label: Primary central nervous system lymphoma\ndefinition : A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.\nsynonyms :Primary CNS lymphoma\n'}


{'id': 'HP_0030070', 'url': 'http://purl.obolibrary.org/obo/HP_0030070', 'lbl': 'Central primitive neuroectodermal tumor', 'desc': 'label: Central primitive neuroectodermal tumor\ndefinition : A primitive neuroectodermal neoplasm that occurs in the central nervous system.\nsynonyms :Central primitive neuroectodermal tumour\n'}


{'id': 'HP_0030071', 'url': 'http://purl.obolibrary.org/obo/HP_0030071', 'lbl': 'Medulloepithelioma', 'desc': 'label: Medulloepithelioma\ndefinition : A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.\nsynonyms :\n'}


{'id': 'HP_0030072', 'url': 'http://purl.obolibrary.org/obo/HP_0030072', 'lbl': 'Paranasal sinus neoplasm', 'desc': 'label: Paranasal sinus neoplasm\ndefinition : A tumor that originates in the paranasal sinus.\nsynonyms :Neoplasm of the paranasal sinuses; Tumor of the paranasal sinuses; Tumour of the paranasal sinuses\n'}


{'id': 'HP_0030073', 'url': 'http://purl.obolibrary.org/obo/HP_0030073', 'lbl': 'obsolete Pharyngeal neoplasm', 'desc': 'label: obsolete Pharyngeal neoplasm\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030074', 'url': 'http://purl.obolibrary.org/obo/HP_0030074', 'lbl': 'Chemodectoma', 'desc': 'label: Chemodectoma\ndefinition : A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.\nsynonyms :Chemodectomas\n'}


{'id': 'HP_0030075', 'url': 'http://purl.obolibrary.org/obo/HP_0030075', 'lbl': 'Ductal carcinoma in situ', 'desc': 'label: Ductal carcinoma in situ\ndefinition : Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.\nsynonyms :\n'}


{'id': 'HP_0030076', 'url': 'http://purl.obolibrary.org/obo/HP_0030076', 'lbl': 'Lobular carcinoma in situ', 'desc': 'label: Lobular carcinoma in situ\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030077', 'url': 'http://purl.obolibrary.org/obo/HP_0030077', 'lbl': 'Bronchial neoplasm', 'desc': 'label: Bronchial neoplasm\ndefinition : A tumor originating in a bronchus.\nsynonyms :\n'}


{'id': 'HP_0030078', 'url': 'http://purl.obolibrary.org/obo/HP_0030078', 'lbl': 'Lung adenocarcinoma', 'desc': 'label: Lung adenocarcinoma\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030079', 'url': 'http://purl.obolibrary.org/obo/HP_0030079', 'lbl': 'Cervix cancer', 'desc': 'label: Cervix cancer\ndefinition : A tumor of the uterine cervix.\nsynonyms :\n'}


{'id': 'HP_0030080', 'url': 'http://purl.obolibrary.org/obo/HP_0030080', 'lbl': 'Burkitt lymphoma', 'desc': 'label: Burkitt lymphoma\ndefinition : A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.\nsynonyms :\n'}


{'id': 'HP_0030081', 'url': 'http://purl.obolibrary.org/obo/HP_0030081', 'lbl': 'Punctate periventricular T2 hyperintense foci', 'desc': 'label: Punctate periventricular T2 hyperintense foci\ndefinition : Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.\nsynonyms :\n'}


{'id': 'HP_0030082', 'url': 'http://purl.obolibrary.org/obo/HP_0030082', 'lbl': 'Abnormal drinking behavior', 'desc': 'label: Abnormal drinking behavior\ndefinition : Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.\nsynonyms :Abnormal drinking behavior; Abnormal drinking behaviour\n'}


{'id': 'HP_0030083', 'url': 'http://purl.obolibrary.org/obo/HP_0030083', 'lbl': 'Salt craving', 'desc': 'label: Salt craving\ndefinition : An excessive desire to eat salt (sodium chloride) or salty foods.\nsynonyms :Salt craving\n'}


{'id': 'HP_0030084', 'url': 'http://purl.obolibrary.org/obo/HP_0030084', 'lbl': 'Clinodactyly', 'desc': 'label: Clinodactyly\ndefinition : An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).\nsynonyms :Curvature of digit; Permanent curving of the finger\n'}


{'id': 'HP_0030085', 'url': 'http://purl.obolibrary.org/obo/HP_0030085', 'lbl': 'Abnormal CSF lactate concentration', 'desc': 'label: Abnormal CSF lactate concentration\ndefinition : Abnormal concentration of lactate in the cerebrospinal fluid.\nsynonyms :Abnormal CSF lactate level\n'}


{'id': 'HP_0030086', 'url': 'http://purl.obolibrary.org/obo/HP_0030086', 'lbl': 'Reduced CSF lactate', 'desc': 'label: Reduced CSF lactate\ndefinition : Decreased concentration of lactate in the cerebrospinal fluid.\nsynonyms :Hypolactatorachia\n'}


{'id': 'HP_0030087', 'url': 'http://purl.obolibrary.org/obo/HP_0030087', 'lbl': 'Abnormal circulating testosterone concentration', 'desc': 'label: Abnormal circulating testosterone concentration\ndefinition : An anomalous concentration of testosterone in the blood.\nsynonyms :Abnormal testosterone level; Abnormal serum testosterone level\n'}


{'id': 'HP_0030088', 'url': 'http://purl.obolibrary.org/obo/HP_0030088', 'lbl': 'Increased serum testosterone level', 'desc': 'label: Increased serum testosterone level\ndefinition : An elevated circulating testosterone level in the blood.\nsynonyms :Increased testosterone; High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels\n'}


{'id': 'HP_0030089', 'url': 'http://purl.obolibrary.org/obo/HP_0030089', 'lbl': 'Abnormal muscle fiber protein expression', 'desc': 'label: Abnormal muscle fiber protein expression\ndefinition : An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.\nsynonyms :Abnormal muscle fibre protein expression\n'}


{'id': 'HP_0030090', 'url': 'http://purl.obolibrary.org/obo/HP_0030090', 'lbl': 'Abnormal muscle fiber merosin expression', 'desc': 'label: Abnormal muscle fiber merosin expression\ndefinition : An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.\nsynonyms :Abnormal muscle fibre merosin expression\n'}


{'id': 'HP_0030091', 'url': 'http://purl.obolibrary.org/obo/HP_0030091', 'lbl': 'Absent muscle fiber merosin', 'desc': 'label: Absent muscle fiber merosin\ndefinition : Lack of merosin protein in the muscle biopsy.\nsynonyms :Absent merosin staining in muscle biopsy; Absent muscle fiber laminin alpha 2; Absent muscle fibre laminin alpha 2; Absent muscle fibre merosin\n'}


{'id': 'HP_0030092', 'url': 'http://purl.obolibrary.org/obo/HP_0030092', 'lbl': 'Reduced muscle fiber merosin', 'desc': 'label: Reduced muscle fiber merosin\ndefinition : A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.\nsynonyms :Reduced muscle fibre merosin\n'}


{'id': 'HP_0030093', 'url': 'http://purl.obolibrary.org/obo/HP_0030093', 'lbl': 'Abnormal muscle fiber laminin beta 1', 'desc': 'label: Abnormal muscle fiber laminin beta 1\ndefinition : A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.\nsynonyms :Abnormal muscle fibre laminin beta 1\n'}


{'id': 'HP_0030094', 'url': 'http://purl.obolibrary.org/obo/HP_0030094', 'lbl': 'Reduced muscle fiber laminin beta 1', 'desc': 'label: Reduced muscle fiber laminin beta 1\ndefinition : A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.\nsynonyms :Reduced muscle fibre laminin beta 1\n'}


{'id': 'HP_0030095', 'url': 'http://purl.obolibrary.org/obo/HP_0030095', 'lbl': 'Reduced muscle collagen VI', 'desc': 'label: Reduced muscle collagen VI\ndefinition : A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.\nsynonyms :Reduced collagen 6 in muscle\n'}


{'id': 'HP_0030096', 'url': 'http://purl.obolibrary.org/obo/HP_0030096', 'lbl': 'Abnormal muscle fiber dystrophin expression', 'desc': 'label: Abnormal muscle fiber dystrophin expression\ndefinition : A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.\nsynonyms :Abnormal muscle fibre dystrophin expression\n'}


{'id': 'HP_0030097', 'url': 'http://purl.obolibrary.org/obo/HP_0030097', 'lbl': 'Absent muscle dystrophin expression', 'desc': 'label: Absent muscle dystrophin expression\ndefinition : Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.\nsynonyms :\n'}


{'id': 'HP_0030098', 'url': 'http://purl.obolibrary.org/obo/HP_0030098', 'lbl': 'Reduced muscle dystrophin expression', 'desc': 'label: Reduced muscle dystrophin expression\ndefinition : A decreased amount of dystrophin in muscle fiber tissue.\nsynonyms :Reduced dystrophin staining in muscle\n'}


{'id': 'HP_0030099', 'url': 'http://purl.obolibrary.org/obo/HP_0030099', 'lbl': 'Reduced muscle fiber alpha dystroglycan', 'desc': 'label: Reduced muscle fiber alpha dystroglycan\ndefinition : Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.\nsynonyms :Reduced muscle fibre alpha dystroglycan\n'}


{'id': 'HP_0030100', 'url': 'http://purl.obolibrary.org/obo/HP_0030100', 'lbl': 'Abnormal muscle fiber alpha sarcoglycan', 'desc': 'label: Abnormal muscle fiber alpha sarcoglycan\ndefinition : Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\nsynonyms :Abnormal muscle fibre alpha sarcoglycan\n'}


{'id': 'HP_0030101', 'url': 'http://purl.obolibrary.org/obo/HP_0030101', 'lbl': 'Absent muscle fiber alpha sarcoglycan', 'desc': 'label: Absent muscle fiber alpha sarcoglycan\ndefinition : Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.\nsynonyms :Absent muscle fibre alpha sarcoglycan\n'}


{'id': 'HP_0030102', 'url': 'http://purl.obolibrary.org/obo/HP_0030102', 'lbl': 'Reduced muscle fiber alpha sarcoglycan', 'desc': 'label: Reduced muscle fiber alpha sarcoglycan\ndefinition : A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.\nsynonyms :Reduced muscle fibre alpha sarcoglycan\n'}


{'id': 'HP_0030103', 'url': 'http://purl.obolibrary.org/obo/HP_0030103', 'lbl': 'Abnormal muscle fiber beta sarcoglycan', 'desc': 'label: Abnormal muscle fiber beta sarcoglycan\ndefinition : Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\nsynonyms :Abnormal muscle fibre beta sarcoglycan\n'}


{'id': 'HP_0030104', 'url': 'http://purl.obolibrary.org/obo/HP_0030104', 'lbl': 'Abnormal muscle fiber gamma sarcoglycan', 'desc': 'label: Abnormal muscle fiber gamma sarcoglycan\ndefinition : Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\nsynonyms :Abnormal muscle fibre gamma sarcoglycan\n'}


{'id': 'HP_0030105', 'url': 'http://purl.obolibrary.org/obo/HP_0030105', 'lbl': 'Abnormal muscle fiber delta sarcoglycan', 'desc': 'label: Abnormal muscle fiber delta sarcoglycan\ndefinition : Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\nsynonyms :Abnormal muscle fibre delta sarcoglycan\n'}


{'id': 'HP_0030106', 'url': 'http://purl.obolibrary.org/obo/HP_0030106', 'lbl': 'Absent muscle fiber beta sarcoglycan', 'desc': 'label: Absent muscle fiber beta sarcoglycan\ndefinition : Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.\nsynonyms :Absent muscle fibre beta sarcoglycan\n'}


{'id': 'HP_0030107', 'url': 'http://purl.obolibrary.org/obo/HP_0030107', 'lbl': 'Reduced muscle fiber beta sarcoglycan', 'desc': 'label: Reduced muscle fiber beta sarcoglycan\ndefinition : Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.\nsynonyms :Reduced muscle fibre beta sarcoglycan\n'}


{'id': 'HP_0030108', 'url': 'http://purl.obolibrary.org/obo/HP_0030108', 'lbl': 'Reduced muscle fiber gamma sarcoglycan', 'desc': 'label: Reduced muscle fiber gamma sarcoglycan\ndefinition : Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.\nsynonyms :Reduced muscle fibre gamma sarcoglycan\n'}


{'id': 'HP_0030109', 'url': 'http://purl.obolibrary.org/obo/HP_0030109', 'lbl': 'Absent muscle fiber gamma sarcoglycan', 'desc': 'label: Absent muscle fiber gamma sarcoglycan\ndefinition : Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.\nsynonyms :Absent muscle fibre gamma sarcoglycan\n'}


{'id': 'HP_0030110', 'url': 'http://purl.obolibrary.org/obo/HP_0030110', 'lbl': 'Absent muscle fiber delta sarcoglycan', 'desc': 'label: Absent muscle fiber delta sarcoglycan\ndefinition : Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.\nsynonyms :Absent muscle fibre delta sarcoglycan\n'}


{'id': 'HP_0030111', 'url': 'http://purl.obolibrary.org/obo/HP_0030111', 'lbl': 'Reduced muscle fiber delta sarcoglycan', 'desc': 'label: Reduced muscle fiber delta sarcoglycan\ndefinition : Abnormally reduced amount of delta sarcoglycan in muscle.\nsynonyms :Reduced muscle fibre delta sarcoglycan\n'}


{'id': 'HP_0030112', 'url': 'http://purl.obolibrary.org/obo/HP_0030112', 'lbl': 'Abnormal muscle fiber alpha dystroglycan', 'desc': 'label: Abnormal muscle fiber alpha dystroglycan\ndefinition : A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.\nsynonyms :Abnormal muscle fibre alpha dystroglycan\n'}


{'id': 'HP_0030113', 'url': 'http://purl.obolibrary.org/obo/HP_0030113', 'lbl': 'Abnormal muscle fiber dysferlin', 'desc': 'label: Abnormal muscle fiber dysferlin\ndefinition : A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.\nsynonyms :Abnormal muscle fibre dysferlin\n'}


{'id': 'HP_0030114', 'url': 'http://purl.obolibrary.org/obo/HP_0030114', 'lbl': 'Absent muscle fiber dysferlin', 'desc': 'label: Absent muscle fiber dysferlin\ndefinition : Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.\nsynonyms :Absent muscle fibre dysferlin\n'}


{'id': 'HP_0030115', 'url': 'http://purl.obolibrary.org/obo/HP_0030115', 'lbl': 'Reduced muscle fiber dysferlin', 'desc': 'label: Reduced muscle fiber dysferlin\ndefinition : Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.\nsynonyms :Reduced muscle fibre dysferlin\n'}


{'id': 'HP_0030116', 'url': 'http://purl.obolibrary.org/obo/HP_0030116', 'lbl': 'Abnormal muscle fiber emerin', 'desc': 'label: Abnormal muscle fiber emerin\ndefinition : A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.\nsynonyms :Abnormal muscle fibre emerin\n'}


{'id': 'HP_0030117', 'url': 'http://purl.obolibrary.org/obo/HP_0030117', 'lbl': 'Absent muscle fiber emerin', 'desc': 'label: Absent muscle fiber emerin\ndefinition : Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.\nsynonyms :Absent muscle fibre emerin\n'}


{'id': 'HP_0030118', 'url': 'http://purl.obolibrary.org/obo/HP_0030118', 'lbl': 'Reduced muscle fiber emerin', 'desc': 'label: Reduced muscle fiber emerin\ndefinition : Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.\nsynonyms :Reduced muscle fibre emerin\n'}


{'id': 'HP_0030119', 'url': 'http://purl.obolibrary.org/obo/HP_0030119', 'lbl': 'Abnormal muscle fiber calpain-3', 'desc': 'label: Abnormal muscle fiber calpain-3\ndefinition : A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.\nsynonyms :Abnormal muscle fibre calpain-3\n'}


{'id': 'HP_0030120', 'url': 'http://purl.obolibrary.org/obo/HP_0030120', 'lbl': 'Absent muscle fiber calpain-3', 'desc': 'label: Absent muscle fiber calpain-3\ndefinition : Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.\nsynonyms :Absent muscle fibre calpain-3\n'}


{'id': 'HP_0030121', 'url': 'http://purl.obolibrary.org/obo/HP_0030121', 'lbl': 'Reduced muscle fiber calpain-3', 'desc': 'label: Reduced muscle fiber calpain-3\ndefinition : Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.\nsynonyms :Reduced muscle fibre calpain-3\n'}


{'id': 'HP_0030122', 'url': 'http://purl.obolibrary.org/obo/HP_0030122', 'lbl': 'Reduced muscle fiber perlecan', 'desc': 'label: Reduced muscle fiber perlecan\ndefinition : Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).\nsynonyms :Reduced muscle fibre perlecan\n'}


{'id': 'HP_0030123', 'url': 'http://purl.obolibrary.org/obo/HP_0030123', 'lbl': 'Abnormal muscle fiber lamin A/C', 'desc': 'label: Abnormal muscle fiber lamin A/C\ndefinition : A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.\nsynonyms :Abnormal muscle fibre lamin A/C\n'}


{'id': 'HP_0030124', 'url': 'http://purl.obolibrary.org/obo/HP_0030124', 'lbl': 'Reduced muscle fiber lamin A/C', 'desc': 'label: Reduced muscle fiber lamin A/C\ndefinition : A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.\nsynonyms :Reduced muscle fibre lamin A/C\n'}


{'id': 'HP_0030125', 'url': 'http://purl.obolibrary.org/obo/HP_0030125', 'lbl': 'Sacralization of the fifth lumbar vertebra', 'desc': 'label: Sacralization of the fifth lumbar vertebra\ndefinition : A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.\nsynonyms :L5 sacralization\n'}


{'id': 'HP_0030126', 'url': 'http://purl.obolibrary.org/obo/HP_0030126', 'lbl': 'Abnormal endometrium morphology', 'desc': 'label: Abnormal endometrium morphology\ndefinition : An anomaly of the inner mucous membrane of the uterus.\nsynonyms :Abnormality of the endometrium\n'}


{'id': 'HP_0030127', 'url': 'http://purl.obolibrary.org/obo/HP_0030127', 'lbl': 'Endometriosis', 'desc': 'label: Endometriosis\ndefinition : The growth of endometrial tissue outside the uterus.\nsynonyms :\n'}


{'id': 'HP_0030129', 'url': 'http://purl.obolibrary.org/obo/HP_0030129', 'lbl': 'Impaired ristocetin cofactor assay activity', 'desc': 'label: Impaired ristocetin cofactor assay activity\ndefinition : Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.\nsynonyms :\n'}


{'id': 'HP_0030130', 'url': 'http://purl.obolibrary.org/obo/HP_0030130', 'lbl': 'Impaired von Willebrand factor collagen binding activity', 'desc': 'label: Impaired von Willebrand factor collagen binding activity\ndefinition : Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.\nsynonyms :\n'}


{'id': 'HP_0030131', 'url': 'http://purl.obolibrary.org/obo/HP_0030131', 'lbl': 'Abnormal von Willebrand factor multimer distribution', 'desc': 'label: Abnormal von Willebrand factor multimer distribution\ndefinition : Deviation from the normal von Willebrand factor multimer pattern.\nsynonyms :\n'}


{'id': 'HP_0030132', 'url': 'http://purl.obolibrary.org/obo/HP_0030132', 'lbl': 'Absence of large von Willebrand factor multimers', 'desc': 'label: Absence of large von Willebrand factor multimers\ndefinition : Absence of large von Willebrand Factor multimers on gel electrophoresis.\nsynonyms :\n'}


{'id': 'HP_0030133', 'url': 'http://purl.obolibrary.org/obo/HP_0030133', 'lbl': 'Abnormal presence of ultra-large von Willebrand factor multimers', 'desc': 'label: Abnormal presence of ultra-large von Willebrand factor multimers\ndefinition : Detection of abnormal ultra-large von Willebrand factor multimers.\nsynonyms :\n'}


{'id': 'HP_0030134', 'url': 'http://purl.obolibrary.org/obo/HP_0030134', 'lbl': 'Total absence von Willebrand factor multimers', 'desc': 'label: Total absence von Willebrand factor multimers\ndefinition : Complete absence of all von Willebrand factor multimers.\nsynonyms :\n'}


{'id': 'HP_0030135', 'url': 'http://purl.obolibrary.org/obo/HP_0030135', 'lbl': 'Absence of intermediate von Willebrand factor multimers', 'desc': 'label: Absence of intermediate von Willebrand factor multimers\ndefinition : Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.\nsynonyms :\n'}


{'id': 'HP_0030136', 'url': 'http://purl.obolibrary.org/obo/HP_0030136', 'lbl': 'Enhanced ristocetin cofactor assay activity', 'desc': 'label: Enhanced ristocetin cofactor assay activity\ndefinition : Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.\nsynonyms :\n'}


{'id': 'HP_0030137', 'url': 'http://purl.obolibrary.org/obo/HP_0030137', 'lbl': 'Prolonged bleeding following circumcision', 'desc': 'label: Prolonged bleeding following circumcision\ndefinition : Bleeding that persists for a longer than usual time following circumcision.\nsynonyms :Prolonged bleeding following circumcision\n'}


{'id': 'HP_0030138', 'url': 'http://purl.obolibrary.org/obo/HP_0030138', 'lbl': 'Excessive bleeding from superficial cuts', 'desc': 'label: Excessive bleeding from superficial cuts\ndefinition : An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.\nsynonyms :Excessive bleeding from superficial cuts\n'}


{'id': 'HP_0030139', 'url': 'http://purl.obolibrary.org/obo/HP_0030139', 'lbl': 'Excessive bleeding after a venipuncture', 'desc': 'label: Excessive bleeding after a venipuncture\ndefinition : An abnormal high amount of bleeding following the procedure of taking a blood sample.\nsynonyms :\n'}


{'id': 'HP_0030140', 'url': 'http://purl.obolibrary.org/obo/HP_0030140', 'lbl': 'Oral cavity bleeding', 'desc': 'label: Oral cavity bleeding\ndefinition : Recurrent or excessive bleeding from the mouth.\nsynonyms :Bleeding from mouth; Oral cavity bleeding; Oral cavity haemorrhage; Oral cavity hemorrhage\n'}


{'id': 'HP_0030141', 'url': 'http://purl.obolibrary.org/obo/HP_0030141', 'lbl': 'Abnormality of the posterior hairline', 'desc': 'label: Abnormality of the posterior hairline\ndefinition : An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.\nsynonyms :Abnormality of hairline at back of head\n'}


{'id': 'HP_0030142', 'url': 'http://purl.obolibrary.org/obo/HP_0030142', 'lbl': 'Abnormal bowel sounds', 'desc': 'label: Abnormal bowel sounds\ndefinition : An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.\nsynonyms :Abnormal bowel sounds\n'}


{'id': 'HP_0030143', 'url': 'http://purl.obolibrary.org/obo/HP_0030143', 'lbl': 'Hyperactive bowel sounds', 'desc': 'label: Hyperactive bowel sounds\ndefinition : Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.\nsynonyms :Borborygmi; Increased bowel sounds\n'}


{'id': 'HP_0030144', 'url': 'http://purl.obolibrary.org/obo/HP_0030144', 'lbl': 'Hypoactive bowel sounds', 'desc': 'label: Hypoactive bowel sounds\ndefinition : An decreased amount of bowel sounds.\nsynonyms :Decreased bowel sounds\n'}


{'id': 'HP_0030145', 'url': 'http://purl.obolibrary.org/obo/HP_0030145', 'lbl': 'Lack of bowel sounds', 'desc': 'label: Lack of bowel sounds\ndefinition : Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.\nsynonyms :Lack of bowel sounds\n'}


{'id': 'HP_0030146', 'url': 'http://purl.obolibrary.org/obo/HP_0030146', 'lbl': 'Abnormal liver parenchyma morphology', 'desc': 'label: Abnormal liver parenchyma morphology\ndefinition : A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.\nsynonyms :\n'}


{'id': 'HP_0030147', 'url': 'http://purl.obolibrary.org/obo/HP_0030147', 'lbl': 'Truncal titubation', 'desc': 'label: Truncal titubation\ndefinition : Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.\nsynonyms :\n'}


{'id': 'HP_0030148', 'url': 'http://purl.obolibrary.org/obo/HP_0030148', 'lbl': 'Heart murmur', 'desc': 'label: Heart murmur\ndefinition : An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.\nsynonyms :Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs\n'}


{'id': 'HP_0030149', 'url': 'http://purl.obolibrary.org/obo/HP_0030149', 'lbl': 'Cardiogenic shock', 'desc': 'label: Cardiogenic shock\ndefinition : Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.\nsynonyms :Cardiovascular shock\n'}


{'id': 'HP_0030150', 'url': 'http://purl.obolibrary.org/obo/HP_0030150', 'lbl': 'Plasmacytosis', 'desc': 'label: Plasmacytosis\ndefinition : An abnormally increased number of plasma cells in tissues, exudates, or blood\nsynonyms :\n'}


{'id': 'HP_0030151', 'url': 'http://purl.obolibrary.org/obo/HP_0030151', 'lbl': 'Cholangitis', 'desc': 'label: Cholangitis\ndefinition : Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.\nsynonyms :Bile duct inflammation\n'}


{'id': 'HP_0030152', 'url': 'http://purl.obolibrary.org/obo/HP_0030152', 'lbl': 'obsolete Biliary tract neoplasm', 'desc': 'label: obsolete Biliary tract neoplasm\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030153', 'url': 'http://purl.obolibrary.org/obo/HP_0030153', 'lbl': 'Cholangiocarcinoma', 'desc': 'label: Cholangiocarcinoma\ndefinition : Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.\nsynonyms :Bile duct cancer\n'}


{'id': 'HP_0030154', 'url': 'http://purl.obolibrary.org/obo/HP_0030154', 'lbl': 'Gallbladder perforation', 'desc': 'label: Gallbladder perforation\ndefinition : Rupture of the wall of the gallbladder.\nsynonyms :Gall bladder perforation\n'}


{'id': 'HP_0030155', 'url': 'http://purl.obolibrary.org/obo/HP_0030155', 'lbl': 'Scrotal pain', 'desc': 'label: Scrotal pain\ndefinition : An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.\nsynonyms :Scrotal pain\n'}


{'id': 'HP_0030156', 'url': 'http://purl.obolibrary.org/obo/HP_0030156', 'lbl': 'Bence Jones Proteinuria', 'desc': 'label: Bence Jones Proteinuria\ndefinition : The presence of free monoclonal immunoglobulin light chains in the urine.\nsynonyms :\n'}


{'id': 'HP_0030157', 'url': 'http://purl.obolibrary.org/obo/HP_0030157', 'lbl': 'Flank pain', 'desc': 'label: Flank pain\ndefinition : An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.\nsynonyms :Kidney pain; Flank pain\n'}


{'id': 'HP_0030158', 'url': 'http://purl.obolibrary.org/obo/HP_0030158', 'lbl': 'Cervical ectropion', 'desc': 'label: Cervical ectropion\ndefinition : Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu\nsynonyms :Cervical ectopy; Cervical erosion\n'}


{'id': 'HP_0030159', 'url': 'http://purl.obolibrary.org/obo/HP_0030159', 'lbl': 'Cervical polyp', 'desc': 'label: Cervical polyp\ndefinition : Abnormal growth of tissue projecting from a mucous membrane of the endocervix.\nsynonyms :Cervical tumor; Cervical tumour\n'}


{'id': 'HP_0030160', 'url': 'http://purl.obolibrary.org/obo/HP_0030160', 'lbl': 'Cervicitis', 'desc': 'label: Cervicitis\ndefinition : Inflammation of the uterine cervix.\nsynonyms :Uterine cervicitis; Uterine cervix inflammation\n'}


{'id': 'HP_0030161', 'url': 'http://purl.obolibrary.org/obo/HP_0030161', 'lbl': 'Vaginal pruritus', 'desc': 'label: Vaginal pruritus\ndefinition : A sensation of itching in the vagina.\nsynonyms :\n'}


{'id': 'HP_0030162', 'url': 'http://purl.obolibrary.org/obo/HP_0030162', 'lbl': 'Glomerulomegaly', 'desc': 'label: Glomerulomegaly\ndefinition : Abnormally large size of glomeruli.\nsynonyms :\n'}


{'id': 'HP_0030163', 'url': 'http://purl.obolibrary.org/obo/HP_0030163', 'lbl': 'Abnormal vascular physiology', 'desc': 'label: Abnormal vascular physiology\ndefinition : Abnormality of vascular function.\nsynonyms :\n'}


{'id': 'HP_0030164', 'url': 'http://purl.obolibrary.org/obo/HP_0030164', 'lbl': 'Jaw claudication', 'desc': 'label: Jaw claudication\ndefinition : Pain in the jaw or ear induced by chewing or otherwise moving the jaw.\nsynonyms :Jaw pain while chewing\n'}


{'id': 'HP_0030165', 'url': 'http://purl.obolibrary.org/obo/HP_0030165', 'lbl': 'Temporal artery tortuosity', 'desc': 'label: Temporal artery tortuosity\ndefinition : The presence of an increased number of twists and turns of the temporal artery.\nsynonyms :\n'}


{'id': 'HP_0030166', 'url': 'http://purl.obolibrary.org/obo/HP_0030166', 'lbl': 'Night sweats', 'desc': 'label: Night sweats\ndefinition : Occurrence of excessive sweating during sleep.\nsynonyms :Night sweats; Nocturnal hyperhidrosis\n'}


{'id': 'HP_0030167', 'url': 'http://purl.obolibrary.org/obo/HP_0030167', 'lbl': 'Antimitochondrial antibody positivity', 'desc': 'label: Antimitochondrial antibody positivity\ndefinition : The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.\nsynonyms :Serum antimitochrondrial antibodies\n'}


{'id': 'HP_0030168', 'url': 'http://purl.obolibrary.org/obo/HP_0030168', 'lbl': 'Dilated superficial abdominal veins', 'desc': 'label: Dilated superficial abdominal veins\ndefinition : Increase in diameter of the veins located underneath the skin of the abdomen.\nsynonyms :Dilatation of the superficial abdominal veins\n'}


{'id': 'HP_0030169', 'url': 'http://purl.obolibrary.org/obo/HP_0030169', 'lbl': 'Gastric varix', 'desc': 'label: Gastric varix\ndefinition : Extreme dilation of the submucusoal veins in the stomach.\nsynonyms :Gastric varices\n'}


{'id': 'HP_0030170', 'url': 'http://purl.obolibrary.org/obo/HP_0030170', 'lbl': 'Cystic artery pseudoaneurysm', 'desc': 'label: Cystic artery pseudoaneurysm\ndefinition : Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.\nsynonyms :\n'}


{'id': 'HP_0030171', 'url': 'http://purl.obolibrary.org/obo/HP_0030171', 'lbl': 'Perirenal hematoma', 'desc': 'label: Perirenal hematoma\ndefinition : A collection of clotted blood surrounding the kidney.\nsynonyms :\n'}


{'id': 'HP_0030172', 'url': 'http://purl.obolibrary.org/obo/HP_0030172', 'lbl': 'Peripheral amyelination', 'desc': 'label: Peripheral amyelination\ndefinition : Congenital absence of the myelin sheath on a nerve.\nsynonyms :\n'}


{'id': 'HP_0030173', 'url': 'http://purl.obolibrary.org/obo/HP_0030173', 'lbl': 'Peripheral hypermyelination', 'desc': 'label: Peripheral hypermyelination\ndefinition : Increased amount of peripheral myelination.\nsynonyms :Increased peripheral myelination\n'}


{'id': 'HP_0030174', 'url': 'http://purl.obolibrary.org/obo/HP_0030174', 'lbl': 'Increased peripheral myelin thickness', 'desc': 'label: Increased peripheral myelin thickness\ndefinition : Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.\nsynonyms :\n'}


{'id': 'HP_0030175', 'url': 'http://purl.obolibrary.org/obo/HP_0030175', 'lbl': 'Myelin tomacula', 'desc': 'label: Myelin tomacula\ndefinition : The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).\nsynonyms :Tomacula\n'}


{'id': 'HP_0030176', 'url': 'http://purl.obolibrary.org/obo/HP_0030176', 'lbl': 'Asymmetric peripheral demyelination', 'desc': 'label: Asymmetric peripheral demyelination\ndefinition : Loss of myelin from peripheral nerves in a pattern that differs between right and left.\nsynonyms :\n'}


{'id': 'HP_0030177', 'url': 'http://purl.obolibrary.org/obo/HP_0030177', 'lbl': 'Abnormality of peripheral nervous system electrophysiology', 'desc': 'label: Abnormality of peripheral nervous system electrophysiology\ndefinition : An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.\nsynonyms :Abnormal nerve conduction study\n'}


{'id': 'HP_0030178', 'url': 'http://purl.obolibrary.org/obo/HP_0030178', 'lbl': 'Abnormality of central nervous system electrophysiology', 'desc': 'label: Abnormality of central nervous system electrophysiology\ndefinition : \nsynonyms :Abnormality of CNS electrophysiology\n'}


{'id': 'HP_0030179', 'url': 'http://purl.obolibrary.org/obo/HP_0030179', 'lbl': 'Abnormal peripheral action potential amplitude', 'desc': 'label: Abnormal peripheral action potential amplitude\ndefinition : An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.\nsynonyms :\n'}


{'id': 'HP_0030180', 'url': 'http://purl.obolibrary.org/obo/HP_0030180', 'lbl': 'Oppenheim reflex', 'desc': 'label: Oppenheim reflex\ndefinition : Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).\nsynonyms :Oppenheim sign\n'}


{'id': 'HP_0030181', 'url': 'http://purl.obolibrary.org/obo/HP_0030181', 'lbl': 'Gordon reflex', 'desc': 'label: Gordon reflex\ndefinition : Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).\nsynonyms :Gordon sign\n'}


{'id': 'HP_0030182', 'url': 'http://purl.obolibrary.org/obo/HP_0030182', 'lbl': 'Tetraplegia/tetraparesis', 'desc': 'label: Tetraplegia/tetraparesis\ndefinition : Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.\nsynonyms :\n'}


{'id': 'HP_0030183', 'url': 'http://purl.obolibrary.org/obo/HP_0030183', 'lbl': 'Impaired visually enhanced vestibulo-ocular reflex', 'desc': 'label: Impaired visually enhanced vestibulo-ocular reflex\ndefinition : The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).\nsynonyms :VVOR impairment; Visually enhanced vestibulo-ocular reflex impairment\n'}


{'id': 'HP_0030185', 'url': 'http://purl.obolibrary.org/obo/HP_0030185', 'lbl': 'Isometric tremor', 'desc': 'label: Isometric tremor\ndefinition : An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).\nsynonyms :Dystonia tremor\n'}


{'id': 'HP_0030186', 'url': 'http://purl.obolibrary.org/obo/HP_0030186', 'lbl': 'Kinetic tremor', 'desc': 'label: Kinetic tremor\ndefinition : Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.\nsynonyms :Essential tremor\n'}


{'id': 'HP_0030187', 'url': 'http://purl.obolibrary.org/obo/HP_0030187', 'lbl': 'Titubation', 'desc': 'label: Titubation\ndefinition : Nodding movement of the head or body.\nsynonyms :\n'}


{'id': 'HP_0030188', 'url': 'http://purl.obolibrary.org/obo/HP_0030188', 'lbl': 'Tremor by anatomical site', 'desc': 'label: Tremor by anatomical site\ndefinition : Tremor classified by the affected body part.\nsynonyms :Tremor of a body part\n'}


{'id': 'HP_0030190', 'url': 'http://purl.obolibrary.org/obo/HP_0030190', 'lbl': 'Oral motor hypotonia', 'desc': 'label: Oral motor hypotonia\ndefinition : Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.\nsynonyms :\n'}


{'id': 'HP_0030191', 'url': 'http://purl.obolibrary.org/obo/HP_0030191', 'lbl': 'Abnormal peripheral nervous system synaptic transmission', 'desc': 'label: Abnormal peripheral nervous system synaptic transmission\ndefinition : An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.\nsynonyms :Abnormal PNS synaptic transmission\n'}


{'id': 'HP_0030192', 'url': 'http://purl.obolibrary.org/obo/HP_0030192', 'lbl': 'Fatigable weakness of bulbar muscles', 'desc': 'label: Fatigable weakness of bulbar muscles\ndefinition : A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030193', 'url': 'http://purl.obolibrary.org/obo/HP_0030193', 'lbl': 'Fatigable weakness of chewing muscles', 'desc': 'label: Fatigable weakness of chewing muscles\ndefinition : A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030194', 'url': 'http://purl.obolibrary.org/obo/HP_0030194', 'lbl': 'Fatigable weakness of speech muscles', 'desc': 'label: Fatigable weakness of speech muscles\ndefinition : A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030195', 'url': 'http://purl.obolibrary.org/obo/HP_0030195', 'lbl': 'Fatigable weakness of swallowing muscles', 'desc': 'label: Fatigable weakness of swallowing muscles\ndefinition : A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030196', 'url': 'http://purl.obolibrary.org/obo/HP_0030196', 'lbl': 'Fatigable weakness of respiratory muscles', 'desc': 'label: Fatigable weakness of respiratory muscles\ndefinition : A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030197', 'url': 'http://purl.obolibrary.org/obo/HP_0030197', 'lbl': 'Fatigable weakness of skeletal muscles', 'desc': 'label: Fatigable weakness of skeletal muscles\ndefinition : A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030198', 'url': 'http://purl.obolibrary.org/obo/HP_0030198', 'lbl': 'Fatigable weakness of distal limb muscles', 'desc': 'label: Fatigable weakness of distal limb muscles\ndefinition : A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030199', 'url': 'http://purl.obolibrary.org/obo/HP_0030199', 'lbl': 'Fatigable weakness of neck muscles', 'desc': 'label: Fatigable weakness of neck muscles\ndefinition : A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030200', 'url': 'http://purl.obolibrary.org/obo/HP_0030200', 'lbl': 'Fatiguable weakness of proximal limb muscles', 'desc': 'label: Fatiguable weakness of proximal limb muscles\ndefinition : A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :\n'}


{'id': 'HP_0030201', 'url': 'http://purl.obolibrary.org/obo/HP_0030201', 'lbl': 'Response to drugs acting on neuromuscular transmission', 'desc': 'label: Response to drugs acting on neuromuscular transmission\ndefinition : Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.\nsynonyms :\n'}


{'id': 'HP_0030202', 'url': 'http://purl.obolibrary.org/obo/HP_0030202', 'lbl': 'Favorable response of weakness to acetylcholine esterase inhibitors', 'desc': 'label: Favorable response of weakness to acetylcholine esterase inhibitors\ndefinition : Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.\nsynonyms :Favourable response of weakness to acetylcholine esterase inhibitors\n'}


{'id': 'HP_0030203', 'url': 'http://purl.obolibrary.org/obo/HP_0030203', 'lbl': 'Unfavorable response of muscle weakness to acetylcholine esterase inhibitors', 'desc': 'label: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors\ndefinition : Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.\nsynonyms :Unfavourable response of muscle weakness to acetylcholine esterase inhibitors\n'}


{'id': 'HP_0030205', 'url': 'http://purl.obolibrary.org/obo/HP_0030205', 'lbl': 'Increased jitter at single fiber EMG', 'desc': 'label: Increased jitter at single fiber EMG\ndefinition : The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).\nsynonyms :Increased jitter at single fibre EMG; Increased jitter at single fibre electromyography\n'}


{'id': 'HP_0030206', 'url': 'http://purl.obolibrary.org/obo/HP_0030206', 'lbl': 'EMG: incremental response of compound muscle action potential to repetitive nerve stimulation', 'desc': 'label: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation\ndefinition : A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.\nsynonyms :\n'}


{'id': 'HP_0030207', 'url': 'http://purl.obolibrary.org/obo/HP_0030207', 'lbl': 'Paradoxical respiration', 'desc': 'label: Paradoxical respiration\ndefinition : Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.\nsynonyms :Paradoxical breathing; Flail chest\n'}


{'id': 'HP_0030208', 'url': 'http://purl.obolibrary.org/obo/HP_0030208', 'lbl': 'Anti-acetylcholine receptor antibody positivity', 'desc': 'label: Anti-acetylcholine receptor antibody positivity\ndefinition : The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which 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.\nsynonyms :Acetylcholine receptor antibody positivity; Anti-AChR antibody positivity\n'}


{'id': 'HP_0030209', 'url': 'http://purl.obolibrary.org/obo/HP_0030209', 'lbl': 'Calcium channel antibody positivity', 'desc': 'label: Calcium channel antibody positivity\ndefinition : The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.\nsynonyms :Ca channel antibody positivity; Ca2+ channel antibody positivity\n'}


{'id': 'HP_0030210', 'url': 'http://purl.obolibrary.org/obo/HP_0030210', 'lbl': 'Anti-muscle-specific tyrosine kinase antibody', 'desc': 'label: Anti-muscle-specific tyrosine kinase antibody\ndefinition : The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).\nsynonyms :Anti-MUSK antibodies; Anti-muscle-specific tyrosine kinase antibody; Muscle specific kinase antibody positivity\n'}


{'id': 'HP_0030211', 'url': 'http://purl.obolibrary.org/obo/HP_0030211', 'lbl': 'Slow pupillary light response', 'desc': 'label: Slow pupillary light response\ndefinition : Reduced velocity and acceleration in the pupillary light response.\nsynonyms :Sluggish pupillary reaction\n'}


{'id': 'HP_0030212', 'url': 'http://purl.obolibrary.org/obo/HP_0030212', 'lbl': 'Collectionism', 'desc': 'label: Collectionism\ndefinition : Excessive or pathological tendency to save and collect possessions.\nsynonyms :Collecting; Compulsive hoarding; Hoarding\n'}


{'id': 'HP_0030213', 'url': 'http://purl.obolibrary.org/obo/HP_0030213', 'lbl': 'Emotional blunting', 'desc': 'label: Emotional blunting\ndefinition : Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.\nsynonyms :\n'}


{'id': 'HP_0030214', 'url': 'http://purl.obolibrary.org/obo/HP_0030214', 'lbl': 'Hypersexuality', 'desc': 'label: Hypersexuality\ndefinition : Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.\nsynonyms :Sex addiction\n'}


{'id': 'HP_0030215', 'url': 'http://purl.obolibrary.org/obo/HP_0030215', 'lbl': 'Inappropriate crying', 'desc': 'label: Inappropriate crying\ndefinition : Uncontrolled episodes of crying, without apparent motivating stimuli.\nsynonyms :Inappropriate crying\n'}


{'id': 'HP_0030216', 'url': 'http://purl.obolibrary.org/obo/HP_0030216', 'lbl': 'Inertia', 'desc': 'label: Inertia\ndefinition : Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).\nsynonyms :\n'}


{'id': 'HP_0030217', 'url': 'http://purl.obolibrary.org/obo/HP_0030217', 'lbl': 'Limb apraxia', 'desc': 'label: Limb apraxia\ndefinition : Difficulty in performing the correct execution of limbs movements in absence of motor impairment.\nsynonyms :\n'}


{'id': 'HP_0030218', 'url': 'http://purl.obolibrary.org/obo/HP_0030218', 'lbl': 'Punding', 'desc': 'label: Punding\ndefinition : Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.\nsynonyms :\n'}


{'id': 'HP_0030219', 'url': 'http://purl.obolibrary.org/obo/HP_0030219', 'lbl': 'Semantic dementia', 'desc': 'label: Semantic dementia\ndefinition : A progressive loss of the ability to remember the meaning of words, faces and objects.\nsynonyms :Trouble remembering words\n'}


{'id': 'HP_0030220', 'url': 'http://purl.obolibrary.org/obo/HP_0030220', 'lbl': 'Socially inappropriate behavior', 'desc': 'label: Socially inappropriate behavior\ndefinition : Behavior that is not in line with social norms.\nsynonyms :Socially inappropriate behavior; Socially inappropriate behaviour\n'}


{'id': 'HP_0030221', 'url': 'http://purl.obolibrary.org/obo/HP_0030221', 'lbl': 'Sweet craving', 'desc': 'label: Sweet craving\ndefinition : Excessive desire to eat sweet foods.\nsynonyms :Sweet craving\n'}


{'id': 'HP_0030222', 'url': 'http://purl.obolibrary.org/obo/HP_0030222', 'lbl': 'Visual agnosia', 'desc': 'label: Visual agnosia\ndefinition : Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.\nsynonyms :\n'}


{'id': 'HP_0030223', 'url': 'http://purl.obolibrary.org/obo/HP_0030223', 'lbl': 'Manifestations of perseverative thought or action', 'desc': 'label: Manifestations of perseverative thought or action\ndefinition : Results from continuous and inappropriate maintenance of a current set, framework, or behavior.\nsynonyms :Perseveration; Perseverative behavior; Perseverative behaviour\n'}


{'id': 'HP_0030224', 'url': 'http://purl.obolibrary.org/obo/HP_0030224', 'lbl': 'Abnormal muscle fiber desmin', 'desc': 'label: Abnormal muscle fiber desmin\ndefinition : A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.\nsynonyms :Abnormal muscle fibre desmin\n'}


{'id': 'HP_0030225', 'url': 'http://purl.obolibrary.org/obo/HP_0030225', 'lbl': 'Accumulation of muscle fiber desmin', 'desc': 'label: Accumulation of muscle fiber desmin\ndefinition : Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.\nsynonyms :Accumulation of muscle fibre desmin; Muscle fiber desmin-reactive inclusion bodies; Muscle fibre desmin-reactive inclusion bodies\n'}


{'id': 'HP_0030226', 'url': 'http://purl.obolibrary.org/obo/HP_0030226', 'lbl': 'Abnormal muscle fiber myotilin', 'desc': 'label: Abnormal muscle fiber myotilin\ndefinition : A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.\nsynonyms :Abnormal muscle fibre myotilin\n'}


{'id': 'HP_0030227', 'url': 'http://purl.obolibrary.org/obo/HP_0030227', 'lbl': 'Accumulation of muscle fiber myotilin', 'desc': 'label: Accumulation of muscle fiber myotilin\ndefinition : Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.\nsynonyms :Accumulation of muscle fibre myotilin\n'}


{'id': 'HP_0030228', 'url': 'http://purl.obolibrary.org/obo/HP_0030228', 'lbl': 'Abnormal muscle fiber valosin-containing protein', 'desc': 'label: Abnormal muscle fiber valosin-containing protein\ndefinition : A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.\nsynonyms :Abnormal muscle fibre valosin-containing protein\n'}


{'id': 'HP_0030229', 'url': 'http://purl.obolibrary.org/obo/HP_0030229', 'lbl': 'Accumulation of muscle fiber valosin-containing protein', 'desc': 'label: Accumulation of muscle fiber valosin-containing protein\ndefinition : Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.\nsynonyms :Accumulation of muscle fibre valosin-containing protein\n'}


{'id': 'HP_0030230', 'url': 'http://purl.obolibrary.org/obo/HP_0030230', 'lbl': 'Central core regions in muscle fibers', 'desc': 'label: Central core regions in muscle fibers\ndefinition : The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.\nsynonyms :Central core regions in muscle fibres\n'}


{'id': 'HP_0030231', 'url': 'http://purl.obolibrary.org/obo/HP_0030231', 'lbl': 'Glycogen accumulation in muscle fiber lysosomes', 'desc': 'label: Glycogen accumulation in muscle fiber lysosomes\ndefinition : An increased amount of glycogen in muscle tissue found specifically in lysosomes.\nsynonyms :Glycogen accumulation in muscle fibre lysosomes\n'}


{'id': 'HP_0030232', 'url': 'http://purl.obolibrary.org/obo/HP_0030232', 'lbl': 'Increased sarcoplasmic glycogen', 'desc': 'label: Increased sarcoplasmic glycogen\ndefinition : Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.\nsynonyms :\n'}


{'id': 'HP_0030233', 'url': 'http://purl.obolibrary.org/obo/HP_0030233', 'lbl': 'Bethlem sign', 'desc': 'label: Bethlem sign\ndefinition : Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.\nsynonyms :Bethlem phenomenon\n'}


{'id': 'HP_0030234', 'url': 'http://purl.obolibrary.org/obo/HP_0030234', 'lbl': 'Highly elevated creatine kinase', 'desc': 'label: Highly elevated creatine kinase\ndefinition : An increased CPK level between 4X and 50X above the upper normal level.\nsynonyms :Highly elevated CPK; Highly elevated creatine phosphokinase; Highly elevated serum CK; Highly elevated serum CPK; Highly elevated serum phosph-CK\n'}


{'id': 'HP_0030235', 'url': 'http://purl.obolibrary.org/obo/HP_0030235', 'lbl': 'Extremely elevated creatine kinase', 'desc': 'label: Extremely elevated creatine kinase\ndefinition : An increased creatine kinase level more than 50X above the upper normal level.\nsynonyms :Extremely elevated CPK; Extremely elevated creatine phosphokinase; Extremely elevated phospho-CK serum level; Extremely elevated serum CK level; Extremely high CPK level\n'}


{'id': 'HP_0030236', 'url': 'http://purl.obolibrary.org/obo/HP_0030236', 'lbl': 'Abnormality of muscle size', 'desc': 'label: Abnormality of muscle size\ndefinition : Abnormalities of the overall muscle bulk based on clinical observation.\nsynonyms :Abnormality of muscle size\n'}


{'id': 'HP_0030237', 'url': 'http://purl.obolibrary.org/obo/HP_0030237', 'lbl': 'Hand muscle weakness', 'desc': 'label: Hand muscle weakness\ndefinition : Reduced strength of the musculature of the hand.\nsynonyms :Hand muscle weakness\n'}


{'id': 'HP_0030239', 'url': 'http://purl.obolibrary.org/obo/HP_0030239', 'lbl': 'Hypoplasia of the upper arm musculature', 'desc': 'label: Hypoplasia of the upper arm musculature\ndefinition : Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.\nsynonyms :Underdeveloped upper arm muscles\n'}


{'id': 'HP_0030241', 'url': 'http://purl.obolibrary.org/obo/HP_0030241', 'lbl': 'Hypoplasia of deltoid muscle', 'desc': 'label: Hypoplasia of deltoid muscle\ndefinition : Underdevelopment of the deltoid muscle.\nsynonyms :Deltoid muscle hypoplasia\n'}


{'id': 'HP_0030242', 'url': 'http://purl.obolibrary.org/obo/HP_0030242', 'lbl': 'Portal vein thrombosis', 'desc': 'label: Portal vein thrombosis\ndefinition : Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.\nsynonyms :Blood clot in portal vein\n'}


{'id': 'HP_0030243', 'url': 'http://purl.obolibrary.org/obo/HP_0030243', 'lbl': 'Hepatic vein thrombosis', 'desc': 'label: Hepatic vein thrombosis\ndefinition : An obstruction in the veins of the liver caused by a blood clot (thrombosis).\nsynonyms :Blood clot in liver vein; Hepatic venous thrombosis\n'}


{'id': 'HP_0030244', 'url': 'http://purl.obolibrary.org/obo/HP_0030244', 'lbl': 'Maternal fever in pregnancy', 'desc': 'label: Maternal fever in pregnancy\ndefinition : The occurence of an elevated body temperature of the mother during pregnancy.\nsynonyms :Maternal fever during pregnancy\n'}


{'id': 'HP_0030245', 'url': 'http://purl.obolibrary.org/obo/HP_0030245', 'lbl': 'Intrapartum fever', 'desc': 'label: Intrapartum fever\ndefinition : The occurence of maternal fever during labor.\nsynonyms :Maternal fever during labor; Maternal fever during labour\n'}


{'id': 'HP_0030246', 'url': 'http://purl.obolibrary.org/obo/HP_0030246', 'lbl': 'Maternal first trimester fever', 'desc': 'label: Maternal first trimester fever\ndefinition : The occurence of fever in a mother during the first trimester of pregnancy.\nsynonyms :\n'}


{'id': 'HP_0030247', 'url': 'http://purl.obolibrary.org/obo/HP_0030247', 'lbl': 'Splanchnic vein thrombosis', 'desc': 'label: Splanchnic vein thrombosis\ndefinition : The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).\nsynonyms :Blood clot in splanchnic vein\n'}


{'id': 'HP_0030248', 'url': 'http://purl.obolibrary.org/obo/HP_0030248', 'lbl': 'Mesenteric venous thrombosis', 'desc': 'label: Mesenteric venous thrombosis\ndefinition : A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).\nsynonyms :Blood clot in mesentertic vein\n'}


{'id': 'HP_0030249', 'url': 'http://purl.obolibrary.org/obo/HP_0030249', 'lbl': 'Enanthema', 'desc': 'label: Enanthema\ndefinition : A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.\nsynonyms :\n'}


{'id': 'HP_0030250', 'url': 'http://purl.obolibrary.org/obo/HP_0030250', 'lbl': 'Pulmonary granulomatosis', 'desc': 'label: Pulmonary granulomatosis\ndefinition : The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.\nsynonyms :\n'}


{'id': 'HP_0030251', 'url': 'http://purl.obolibrary.org/obo/HP_0030251', 'lbl': 'Absence of memory B cells', 'desc': 'label: Absence of memory B cells\ndefinition : Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.\nsynonyms :\n'}


{'id': 'HP_0030252', 'url': 'http://purl.obolibrary.org/obo/HP_0030252', 'lbl': 'Absent circulating B cells', 'desc': 'label: Absent circulating B cells\ndefinition : Complete lack of mature B cells, that is, of B cells that have left the bone marrow.\nsynonyms :Absence of mature B cells\n'}


{'id': 'HP_0030253', 'url': 'http://purl.obolibrary.org/obo/HP_0030253', 'lbl': 'Defective T cell proliferation', 'desc': 'label: Defective T cell proliferation\ndefinition : A reduced ability of a T cell population to expand by cell division following T cell activation.\nsynonyms :\n'}


{'id': 'HP_0030254', 'url': 'http://purl.obolibrary.org/obo/HP_0030254', 'lbl': 'Nail bed hemorrhage', 'desc': 'label: Nail bed hemorrhage\ndefinition : Small areas of bleeding (hemorrhage) under the fingernail or toenail.\nsynonyms :Nail bed haemorrhage\n'}


{'id': 'HP_0030255', 'url': 'http://purl.obolibrary.org/obo/HP_0030255', 'lbl': 'Large intestinal polyposis', 'desc': 'label: Large intestinal polyposis\ndefinition : The presence of multiple polyps in the large intestine.\nsynonyms :\n'}


{'id': 'HP_0030256', 'url': 'http://purl.obolibrary.org/obo/HP_0030256', 'lbl': 'Small intestinal polyposis', 'desc': 'label: Small intestinal polyposis\ndefinition : The presence of multiple polyps in the small intestine.\nsynonyms :\n'}


{'id': 'HP_0030257', 'url': 'http://purl.obolibrary.org/obo/HP_0030257', 'lbl': 'Freckled genitalia', 'desc': 'label: Freckled genitalia\ndefinition : One or more brown punctate macules on the skin of the genitalia.\nsynonyms :Freckled genitalia; Genitalia, ephelides\n'}


{'id': 'HP_0030258', 'url': 'http://purl.obolibrary.org/obo/HP_0030258', 'lbl': 'Hyperpigmented genitalia', 'desc': 'label: Hyperpigmented genitalia\ndefinition : Localized or generalized increased genital pigmentation.\nsynonyms :Increased genital pigmentation; Penile melanosis\n'}


{'id': 'HP_0030259', 'url': 'http://purl.obolibrary.org/obo/HP_0030259', 'lbl': 'Hypopigmented genitalia', 'desc': 'label: Hypopigmented genitalia\ndefinition : Localized or generalized decreased genital pigmentation.\nsynonyms :Decreased genital pigmentation\n'}


{'id': 'HP_0030260', 'url': 'http://purl.obolibrary.org/obo/HP_0030260', 'lbl': 'Microphallus', 'desc': 'label: Microphallus\ndefinition : Length of penis more than 2 SD below the mean for age accompanied by hypospadias.\nsynonyms :\n'}


{'id': 'HP_0030261', 'url': 'http://purl.obolibrary.org/obo/HP_0030261', 'lbl': 'Absent penis', 'desc': 'label: Absent penis\ndefinition : Lack of recognizable penile structures.\nsynonyms :Absent penis; Aphallia; Aplasia of the penis; Penis aplasia\n'}


{'id': 'HP_0030262', 'url': 'http://purl.obolibrary.org/obo/HP_0030262', 'lbl': 'Narrow penis', 'desc': 'label: Narrow penis\ndefinition : Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.\nsynonyms :Narrow penis\n'}


{'id': 'HP_0030263', 'url': 'http://purl.obolibrary.org/obo/HP_0030263', 'lbl': 'Torsion of the penis', 'desc': 'label: Torsion of the penis\ndefinition : Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.\nsynonyms :\n'}


{'id': 'HP_0030264', 'url': 'http://purl.obolibrary.org/obo/HP_0030264', 'lbl': 'Webbed penis', 'desc': 'label: Webbed penis\ndefinition : Ventral skinfold extending from penis to scrotum.\nsynonyms :Webbed penis\n'}


{'id': 'HP_0030265', 'url': 'http://purl.obolibrary.org/obo/HP_0030265', 'lbl': 'Wide penis', 'desc': 'label: Wide penis\ndefinition : Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.\nsynonyms :Wide penis\n'}


{'id': 'HP_0030266', 'url': 'http://purl.obolibrary.org/obo/HP_0030266', 'lbl': 'obsolete Abnormality of the sacroiliac notch', 'desc': 'label: obsolete Abnormality of the sacroiliac notch\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030267', 'url': 'http://purl.obolibrary.org/obo/HP_0030267', 'lbl': 'Calcification of the interosseus membrane of the forearm', 'desc': 'label: Calcification of the interosseus membrane of the forearm\ndefinition : Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.\nsynonyms :\n'}


{'id': 'HP_0030268', 'url': 'http://purl.obolibrary.org/obo/HP_0030268', 'lbl': 'Hyperplastic callus formation', 'desc': 'label: Hyperplastic callus formation\ndefinition : Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.\nsynonyms :\n'}


{'id': 'HP_0030269', 'url': 'http://purl.obolibrary.org/obo/HP_0030269', 'lbl': 'Increased circulating insulin-like growth factor 1 concentration', 'desc': 'label: Increased circulating insulin-like growth factor 1 concentration\ndefinition : An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.\nsynonyms :Elevated serum IGF1; Increased serum IGF1; Increased serum insulin-like growth factor 1\n'}


{'id': 'HP_0030270', 'url': 'http://purl.obolibrary.org/obo/HP_0030270', 'lbl': 'Elevated red cell adenosine deaminase level', 'desc': 'label: Elevated red cell adenosine deaminase level\ndefinition : Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.\nsynonyms :\n'}


{'id': 'HP_0030271', 'url': 'http://purl.obolibrary.org/obo/HP_0030271', 'lbl': 'Reduced erythrocyte 2,3-diphosphoglycerate concentration', 'desc': 'label: Reduced erythrocyte 2,3-diphosphoglycerate concentration\ndefinition : This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.\nsynonyms :\n'}


{'id': 'HP_0030272', 'url': 'http://purl.obolibrary.org/obo/HP_0030272', 'lbl': 'Abnormal erythrocyte enzyme level', 'desc': 'label: Abnormal erythrocyte enzyme level\ndefinition : An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.\nsynonyms :\n'}


{'id': 'HP_0030273', 'url': 'http://purl.obolibrary.org/obo/HP_0030273', 'lbl': 'Reduced red cell adenosine deaminase level', 'desc': 'label: Reduced red cell adenosine deaminase level\ndefinition : Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.\nsynonyms :\n'}


{'id': 'HP_0030274', 'url': 'http://purl.obolibrary.org/obo/HP_0030274', 'lbl': 'Accessory scrotum', 'desc': 'label: Accessory scrotum\ndefinition : Additional scrotum, or part of a scrotum in an abnormal location.\nsynonyms :Extra scrotum\n'}


{'id': 'HP_0030275', 'url': 'http://purl.obolibrary.org/obo/HP_0030275', 'lbl': 'Ectopic scrotum', 'desc': 'label: Ectopic scrotum\ndefinition : Scrotum in a position other than the usual position inferior to the base of the penis.\nsynonyms :Abnormal scrotum position\n'}


{'id': 'HP_0030276', 'url': 'http://purl.obolibrary.org/obo/HP_0030276', 'lbl': 'obsolete Small scrotum', 'desc': 'label: obsolete Small scrotum\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030277', 'url': 'http://purl.obolibrary.org/obo/HP_0030277', 'lbl': 'Abnormal vertebral pedicle morphology', 'desc': 'label: Abnormal vertebral pedicle morphology\ndefinition : Abnormal morphology of a vertebral pedical.\nsynonyms :\n'}


{'id': 'HP_0030278', 'url': 'http://purl.obolibrary.org/obo/HP_0030278', 'lbl': 'Hypoplastic vertebral pedicle', 'desc': 'label: Hypoplastic vertebral pedicle\ndefinition : Underdeveloped vertebral pedicle.\nsynonyms :\n'}


{'id': 'HP_0030279', 'url': 'http://purl.obolibrary.org/obo/HP_0030279', 'lbl': 'Hypoplastic L5 vertebral pedicle', 'desc': 'label: Hypoplastic L5 vertebral pedicle\ndefinition : Underdeveloped pedicle of the fifth lumbar vertebra.\nsynonyms :\n'}


{'id': 'HP_0030280', 'url': 'http://purl.obolibrary.org/obo/HP_0030280', 'lbl': 'Rib gap', 'desc': 'label: Rib gap\ndefinition : Radiolucent focal defect of a rib shaft.\nsynonyms :Rib gap\n'}


{'id': 'HP_0030281', 'url': 'http://purl.obolibrary.org/obo/HP_0030281', 'lbl': 'Cervical C3/C4 vertebral fusion', 'desc': 'label: Cervical C3/C4 vertebral fusion\ndefinition : Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.\nsynonyms :\n'}


{'id': 'HP_0030282', 'url': 'http://purl.obolibrary.org/obo/HP_0030282', 'lbl': 'Posterior rib gap', 'desc': "label: Posterior rib gap\ndefinition : Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.\nsynonyms :Dorsal rib defect\n"}


{'id': 'HP_0030283', 'url': 'http://purl.obolibrary.org/obo/HP_0030283', 'lbl': 'Partial absence of the septum pellucidum', 'desc': 'label: Partial absence of the septum pellucidum\ndefinition : Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.\nsynonyms :\n'}


{'id': 'HP_0030284', 'url': 'http://purl.obolibrary.org/obo/HP_0030284', 'lbl': 'Triangular tongue', 'desc': 'label: Triangular tongue\ndefinition : A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.\nsynonyms :Triangle shaped tongue; Triangular tongue\n'}


{'id': 'HP_0030285', 'url': 'http://purl.obolibrary.org/obo/HP_0030285', 'lbl': 'Splayed superior cerebellar peduncle', 'desc': 'label: Splayed superior cerebellar peduncle\ndefinition : Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.\nsynonyms :\n'}


{'id': 'HP_0030286', 'url': 'http://purl.obolibrary.org/obo/HP_0030286', 'lbl': 'Atrophic superior cerebellar peduncle', 'desc': 'label: Atrophic superior cerebellar peduncle\ndefinition : Atrophy of the superior cerebellar peduncle.\nsynonyms :\n'}


{'id': 'HP_0030289', 'url': 'http://purl.obolibrary.org/obo/HP_0030289', 'lbl': 'Flattened femoral epiphysis', 'desc': 'label: Flattened femoral epiphysis\ndefinition : An abnormal flattening of an epiphysis of femur.\nsynonyms :Flattended end part of thigh bone\n'}


{'id': 'HP_0030290', 'url': 'http://purl.obolibrary.org/obo/HP_0030290', 'lbl': 'Unossified sacrum', 'desc': 'label: Unossified sacrum\ndefinition : Lack of ossification of the sacrum.\nsynonyms :Absence of sacrum ossification\n'}


{'id': 'HP_0030291', 'url': 'http://purl.obolibrary.org/obo/HP_0030291', 'lbl': 'Lower-limb metaphyseal irregularity', 'desc': 'label: Lower-limb metaphyseal irregularity\ndefinition : Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.\nsynonyms :\n'}


{'id': 'HP_0030292', 'url': 'http://purl.obolibrary.org/obo/HP_0030292', 'lbl': 'Tibial metaphyseal irregularity', 'desc': 'label: Tibial metaphyseal irregularity\ndefinition : Irregularity of the normally smooth surface of a metaphysis of a tibia.\nsynonyms :\n'}


{'id': 'HP_0030293', 'url': 'http://purl.obolibrary.org/obo/HP_0030293', 'lbl': 'Fibular metaphyseal irregularity', 'desc': 'label: Fibular metaphyseal irregularity\ndefinition : Irregularity of the normally smooth surface of a metaphysis of a fibula.\nsynonyms :Irregularity of wide portion of calf bone\n'}


{'id': 'HP_0030294', 'url': 'http://purl.obolibrary.org/obo/HP_0030294', 'lbl': 'Metaphyseal chondromatosis of tibia', 'desc': 'label: Metaphyseal chondromatosis of tibia\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030295', 'url': 'http://purl.obolibrary.org/obo/HP_0030295', 'lbl': 'Metaphyseal chondromatosis of femur', 'desc': 'label: Metaphyseal chondromatosis of femur\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030296', 'url': 'http://purl.obolibrary.org/obo/HP_0030296', 'lbl': 'Metaphyseal chondromatosis of radius', 'desc': 'label: Metaphyseal chondromatosis of radius\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030297', 'url': 'http://purl.obolibrary.org/obo/HP_0030297', 'lbl': 'Metaphyseal chondromatosis of ulna', 'desc': 'label: Metaphyseal chondromatosis of ulna\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030298', 'url': 'http://purl.obolibrary.org/obo/HP_0030298', 'lbl': 'Metaphyseal chondromatosis of humerus', 'desc': 'label: Metaphyseal chondromatosis of humerus\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030299', 'url': 'http://purl.obolibrary.org/obo/HP_0030299', 'lbl': 'Distal femoral metaphyseal abnormality', 'desc': 'label: Distal femoral metaphyseal abnormality\ndefinition : An anomaly of the metaphysis of the distal femur (close to the knee).\nsynonyms :Abnormality of wide portion of outermost thighbone\n'}


{'id': 'HP_0030300', 'url': 'http://purl.obolibrary.org/obo/HP_0030300', 'lbl': '10 pairs of ribs', 'desc': 'label: 10 pairs of ribs\ndefinition : Presence of only 10 (instead of the usual 12) pairs of ribs.\nsynonyms :10 pairs of ribs\n'}


{'id': 'HP_0030301', 'url': 'http://purl.obolibrary.org/obo/HP_0030301', 'lbl': 'Abnormality of the anterior commissure', 'desc': 'label: Abnormality of the anterior commissure\ndefinition : An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.\nsynonyms :\n'}


{'id': 'HP_0030302', 'url': 'http://purl.obolibrary.org/obo/HP_0030302', 'lbl': 'Agenesis of the anterior commissure', 'desc': 'label: Agenesis of the anterior commissure\ndefinition : Absence of the anterior commissure.\nsynonyms :\n'}


{'id': 'HP_0030303', 'url': 'http://purl.obolibrary.org/obo/HP_0030303', 'lbl': 'Hypoplastic anterior commissure', 'desc': 'label: Hypoplastic anterior commissure\ndefinition : Underdevelopment of the anterior commissure.\nsynonyms :\n'}


{'id': 'HP_0030304', 'url': 'http://purl.obolibrary.org/obo/HP_0030304', 'lbl': 'Abnormal number of vertebrae', 'desc': 'label: Abnormal number of vertebrae\ndefinition : A deviation from the normal number of vertebrae in the spinal column.\nsynonyms :\n'}


{'id': 'HP_0030305', 'url': 'http://purl.obolibrary.org/obo/HP_0030305', 'lbl': 'Decreased number of vertebrae', 'desc': 'label: Decreased number of vertebrae\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030306', 'url': 'http://purl.obolibrary.org/obo/HP_0030306', 'lbl': '11 thoracic vertebrae', 'desc': 'label: 11 thoracic vertebrae\ndefinition : The presence of 11 instead of the normal 12 thoracic vertebrae.\nsynonyms :\n'}


{'id': 'HP_0030307', 'url': 'http://purl.obolibrary.org/obo/HP_0030307', 'lbl': 'Flared lower limb metaphysis', 'desc': 'label: Flared lower limb metaphysis\ndefinition : The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.\nsynonyms :Flared metaphysis of lower limb bone\n'}


{'id': 'HP_0030308', 'url': 'http://purl.obolibrary.org/obo/HP_0030308', 'lbl': 'Flared distal tibial metaphysis', 'desc': 'label: Flared distal tibial metaphysis\ndefinition : The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.\nsynonyms :Flared outermost metaphysis of shankbone; Flared outermost metaphysis of shinbone\n'}


{'id': 'HP_0030309', 'url': 'http://purl.obolibrary.org/obo/HP_0030309', 'lbl': 'Flared distal fibular metaphysis', 'desc': 'label: Flared distal fibular metaphysis\ndefinition : The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.\nsynonyms :Flared outermost wide portion of of calf bone\n'}


{'id': 'HP_0030310', 'url': 'http://purl.obolibrary.org/obo/HP_0030310', 'lbl': 'Upper extremity joint dislocation', 'desc': 'label: Upper extremity joint dislocation\ndefinition : Displacement or malalignment of one or more joints in the upper extremity (arm).\nsynonyms :Dislocated arm joints\n'}


{'id': 'HP_0030311', 'url': 'http://purl.obolibrary.org/obo/HP_0030311', 'lbl': 'Lower extremity joint dislocation', 'desc': 'label: Lower extremity joint dislocation\ndefinition : Displacement or malalignment of one or more joints in the lower extremity (leg).\nsynonyms :Dislocated leg joints\n'}


{'id': 'HP_0030312', 'url': 'http://purl.obolibrary.org/obo/HP_0030312', 'lbl': 'Obliteration of the calvarial diploe', 'desc': 'label: Obliteration of the calvarial diploe\ndefinition : Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).\nsynonyms :Obliteration of cranial cancellous bone\n'}


{'id': 'HP_0030313', 'url': 'http://purl.obolibrary.org/obo/HP_0030313', 'lbl': 'Abnormal periosteum morphology', 'desc': 'label: Abnormal periosteum morphology\ndefinition : An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.\nsynonyms :\n'}


{'id': 'HP_0030314', 'url': 'http://purl.obolibrary.org/obo/HP_0030314', 'lbl': 'Periostosis', 'desc': 'label: Periostosis\ndefinition : Abnormal deposition of periosteal bone.\nsynonyms :\n'}


{'id': 'HP_0030318', 'url': 'http://purl.obolibrary.org/obo/HP_0030318', 'lbl': 'Angular cheilitis', 'desc': 'label: Angular cheilitis\ndefinition : A type of inflammation of the lips involving one or both of the corners of the mouth.\nsynonyms :Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth\n'}


{'id': 'HP_0030319', 'url': 'http://purl.obolibrary.org/obo/HP_0030319', 'lbl': 'Weakness of facial musculature', 'desc': 'label: Weakness of facial musculature\ndefinition : Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).\nsynonyms :Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature\n'}


{'id': 'HP_0030320', 'url': 'http://purl.obolibrary.org/obo/HP_0030320', 'lbl': 'Increased intervertebral space', 'desc': 'label: Increased intervertebral space\ndefinition : An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.\nsynonyms :\n'}


{'id': 'HP_0030321', 'url': 'http://purl.obolibrary.org/obo/HP_0030321', 'lbl': 'Abnormal vertebral artery morphology', 'desc': 'label: Abnormal vertebral artery morphology\ndefinition : An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.\nsynonyms :Abnormality of the vertebral artery\n'}


{'id': 'HP_0030322', 'url': 'http://purl.obolibrary.org/obo/HP_0030322', 'lbl': 'Vertebral artery hypoplasia', 'desc': 'label: Vertebral artery hypoplasia\ndefinition : Underdevelopment of the vertebral artery.\nsynonyms :\n'}


{'id': 'HP_0030323', 'url': 'http://purl.obolibrary.org/obo/HP_0030323', 'lbl': 'Unilateral vertebral artery hypoplasia', 'desc': 'label: Unilateral vertebral artery hypoplasia\ndefinition : Underdevelopment of the vertebral artery on one side.\nsynonyms :\n'}


{'id': 'HP_0030324', 'url': 'http://purl.obolibrary.org/obo/HP_0030324', 'lbl': 'Bilateral vertebral artery hypoplasia', 'desc': 'label: Bilateral vertebral artery hypoplasia\ndefinition : Underdevelopment of the vertebral artery on both sides.\nsynonyms :\n'}


{'id': 'HP_0030325', 'url': 'http://purl.obolibrary.org/obo/HP_0030325', 'lbl': 'Cervicomedullary schisis', 'desc': 'label: Cervicomedullary schisis\ndefinition : Fissure within the spinal cord of the neck.\nsynonyms :\n'}


{'id': 'HP_0030326', 'url': 'http://purl.obolibrary.org/obo/HP_0030326', 'lbl': 'Abnormal macrophage count', 'desc': 'label: Abnormal macrophage count\ndefinition : An anomaly in the number of macrophages.\nsynonyms :\n'}


{'id': 'HP_0030327', 'url': 'http://purl.obolibrary.org/obo/HP_0030327', 'lbl': 'Abnormal osteoclast count', 'desc': 'label: Abnormal osteoclast count\ndefinition : An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.\nsynonyms :\n'}


{'id': 'HP_0030328', 'url': 'http://purl.obolibrary.org/obo/HP_0030328', 'lbl': 'Decreased osteoclast count', 'desc': 'label: Decreased osteoclast count\ndefinition : Decreased number of osteoclasts in bone tissue.\nsynonyms :\n'}


{'id': 'HP_0030329', 'url': 'http://purl.obolibrary.org/obo/HP_0030329', 'lbl': 'Retinal thinning', 'desc': 'label: Retinal thinning\ndefinition : Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).\nsynonyms :Retinal thinning\n'}


{'id': 'HP_0030330', 'url': 'http://purl.obolibrary.org/obo/HP_0030330', 'lbl': 'Multinucleated giant chondrocytes in epiphyseal cartilage', 'desc': 'label: Multinucleated giant chondrocytes in epiphyseal cartilage\ndefinition : The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.\nsynonyms :\n'}


{'id': 'HP_0030331', 'url': 'http://purl.obolibrary.org/obo/HP_0030331', 'lbl': 'Impaired stimulus-induced skin wrinkling', 'desc': 'label: Impaired stimulus-induced skin wrinkling\ndefinition : A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).\nsynonyms :\n'}


{'id': 'HP_0030332', 'url': 'http://purl.obolibrary.org/obo/HP_0030332', 'lbl': 'obsolete Abnormal T cell morphology', 'desc': 'label: obsolete Abnormal T cell morphology\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030333', 'url': 'http://purl.obolibrary.org/obo/HP_0030333', 'lbl': 'Abnormal alpha-beta T cell morphology', 'desc': 'label: Abnormal alpha-beta T cell morphology\ndefinition : A structuraly anomaly of T cells that express an alpha-beta T cell receptor.\nsynonyms :\n'}


{'id': 'HP_0030334', 'url': 'http://purl.obolibrary.org/obo/HP_0030334', 'lbl': 'Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology', 'desc': 'label: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology\ndefinition : A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.\nsynonyms :\n'}


{'id': 'HP_0030335', 'url': 'http://purl.obolibrary.org/obo/HP_0030335', 'lbl': 'Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count', 'desc': 'label: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count\ndefinition : A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.\nsynonyms :\n'}


{'id': 'HP_0030336', 'url': 'http://purl.obolibrary.org/obo/HP_0030336', 'lbl': 'Absence of CD4-positive, CD25-positive regulatory T cells', 'desc': 'label: Absence of CD4-positive, CD25-positive regulatory T cells\ndefinition : Lack of CD4+CD25+ T regulatory cells.\nsynonyms :Absence of CD4+CD25+ T regulatory cells; Absence of CD4+CD25+ Tregs\n'}


{'id': 'HP_0030337', 'url': 'http://purl.obolibrary.org/obo/HP_0030337', 'lbl': 'Elevated CD4-positive, CD25-positive regulatory T cell count', 'desc': 'label: Elevated CD4-positive, CD25-positive regulatory T cell count\ndefinition : An increased number of CD4-positive, CD25-positive regulatory T cells.\nsynonyms :\n'}


{'id': 'HP_0030338', 'url': 'http://purl.obolibrary.org/obo/HP_0030338', 'lbl': 'Abnormal circulating gonadotropin concentration', 'desc': 'label: Abnormal circulating gonadotropin concentration\ndefinition : An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).\nsynonyms :Abnormal circulating gonadotropin level\n'}


{'id': 'HP_0030339', 'url': 'http://purl.obolibrary.org/obo/HP_0030339', 'lbl': 'Decreased circulating gonadotropin concentration', 'desc': 'label: Decreased circulating gonadotropin concentration\ndefinition : A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).\nsynonyms :Decreased circulating gonadotropin level\n'}


{'id': 'HP_0030340', 'url': 'http://purl.obolibrary.org/obo/HP_0030340', 'lbl': 'obsolete Increased circulating gonadotropin level', 'desc': 'label: obsolete Increased circulating gonadotropin level\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0030341', 'url': 'http://purl.obolibrary.org/obo/HP_0030341', 'lbl': 'Decreased circulating follicle stimulating hormone concentration', 'desc': 'label: Decreased circulating follicle stimulating hormone concentration\ndefinition : A reduction of the circulating level of follicle-stimulating hormone (FSH).\nsynonyms :Decreased circulating follicle stimulating hormone level\n'}


{'id': 'HP_0030344', 'url': 'http://purl.obolibrary.org/obo/HP_0030344', 'lbl': 'Decreased circulating luteinizing hormone level', 'desc': 'label: Decreased circulating luteinizing hormone level\ndefinition : A reduction in the circulating level of luteinizing hormone (LH).\nsynonyms :Decreased circulating luteinising hormone level\n'}


{'id': 'HP_0030345', 'url': 'http://purl.obolibrary.org/obo/HP_0030345', 'lbl': 'Abnormal circulating luteinizing hormone concentration', 'desc': 'label: Abnormal circulating luteinizing hormone concentration\ndefinition : An anomaly of the circulating level of luteinizing hormone (LH).\nsynonyms :Abnormal circulating luteinizing hormone level; Abnormal luteinizing hormone level; Increased circulating lutropin\n'}


{'id': 'HP_0030346', 'url': 'http://purl.obolibrary.org/obo/HP_0030346', 'lbl': 'Abnormal circulating follicle-stimulating hormone concentration', 'desc': 'label: Abnormal circulating follicle-stimulating hormone concentration\ndefinition : An anomaly of the circulating level of follicle-stimulating hormone (FSH).\nsynonyms :Abnormal circulating follicle-stimulating hormone level\n'}


{'id': 'HP_0030347', 'url': 'http://purl.obolibrary.org/obo/HP_0030347', 'lbl': 'Abnormal circulating androgen level', 'desc': 'label: Abnormal circulating androgen level\ndefinition : An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\nsynonyms :\n'}


{'id': 'HP_0030348', 'url': 'http://purl.obolibrary.org/obo/HP_0030348', 'lbl': 'Increased circulating androgen concentration', 'desc': 'label: Increased circulating androgen concentration\ndefinition : An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\nsynonyms :Hyperandrogenemia; Increased circulating androgen level\n'}


{'id': 'HP_0030349', 'url': 'http://purl.obolibrary.org/obo/HP_0030349', 'lbl': 'Decreased circulating androgen concentration', 'desc': 'label: Decreased circulating androgen concentration\ndefinition : A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\nsynonyms :Decreased circulating androgen level\n'}


{'id': 'HP_0030350', 'url': 'http://purl.obolibrary.org/obo/HP_0030350', 'lbl': 'Erythematous papule', 'desc': 'label: Erythematous papule\ndefinition : A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.\nsynonyms :Red-blue papule\n'}


{'id': 'HP_0030351', 'url': 'http://purl.obolibrary.org/obo/HP_0030351', 'lbl': 'Urticarial plaque', 'desc': 'label: Urticarial plaque\ndefinition : A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.\nsynonyms :\n'}


{'id': 'HP_0030352', 'url': 'http://purl.obolibrary.org/obo/HP_0030352', 'lbl': 'Abnormal serum insulin-like growth factor 1 level', 'desc': 'label: Abnormal serum insulin-like growth factor 1 level\ndefinition : An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.\nsynonyms :\n'}


{'id': 'HP_0030353', 'url': 'http://purl.obolibrary.org/obo/HP_0030353', 'lbl': 'Decreased serum insulin-like growth factor 1', 'desc': 'label: Decreased serum insulin-like growth factor 1\ndefinition : A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.\nsynonyms :\n'}


{'id': 'HP_0030354', 'url': 'http://purl.obolibrary.org/obo/HP_0030354', 'lbl': 'Abnormal circulating interferon concentration', 'desc': 'label: Abnormal circulating interferon concentration\ndefinition : Abnormal levels of interferon in the blood.\nsynonyms :Abnormal serum interferon level\n'}