hp

Human Phenotype Ontology
  • A historic synonym, no longer encouraged0
  • BRAND NAME0
  • CD34-negative, CD56-positive, CD117-positive innate lymphoid cell, human0
  • CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human0
  • CD56-negative, CD161-positive immature natural killer cell, human0
  • CD8-positive, alpha-beta memory T cell0
  • ILC10
  • INN0
  • IUPAC NAME0
  • Label appended to organism-specific terms in place of scientific name0
  • Schwann cell15
  • Synonyms based on current or previous gene name, ORF name, or ordered locus name0
  • Synonyms for proteoforms based on use of UniProtKb accession, subsequence range, and positions and types of modifications or variations0
  • Synonyms for proteoforms based on use of UniProtKb feature identifier (FTId) and positions and types of modifications or variations0
  • Systematic synonym0
  • UK spelling0
  • Unique short label curated by PSI-MOD0
  • Unique short label for PRO terms for display purposes; based on orthology0
  • a mis-spelling that is in common use and thus recorded0
  • a synonym made on the basis of a possibly homologous structure in another species0
  • a systematic synonym used as the base name for design patterns0
  • abbreviation0
  • abbreviation0
  • actions_notes0
  • acts upstream of0
  • acts upstream of or within0
  • acts upstream of or within, negative effect0
  • acts upstream of or within, positive effect0
  • acts upstream of, negative effect0
  • acts upstream of, positive effect0
  • adrenal gland glandular cell0
  • adult skeletal muscle myoblast0
  • amnion mesenchymal stem cell0
  • anatomical entity0
  • anterior_to0
  • anteriorly connected to0
  • anucleate cell0
  • axiom_lost_from_external_ontology0
  • basal epithelial cell of prostatic duct0
  • bearer of0
  • behavior process8
  • behavioral phenotype0
  • binucleate cell19
  • biomechanically related to0
  • bounding layer of0
  • brain macroglial cell0
  • brainstem motor neuron0
  • bronchus fibroblast of lung0
  • capable of negatively regulating0
  • capable of positively regulating0
  • capable of regulating0
  • cardiac atrium fibroblast0
  • cardiac blood vessel endothelial cell0
  • cardiac endothelial cell0
  • cardiac glial cell0
  • cardiac myoblast19
  • cardiac neuron0
  • cardiac septum cell0
  • cardiac ventricle fibroblast0
  • causal agent in process0
  • causal relation between processes0
  • causal relation between material entity and a process0
  • causal relation between entities0
  • causally downstream of or within0
  • causally influenced by0
  • causally influences0
  • causally upstream of or within0
  • causally upstream of or within, negative effect0
  • causally upstream of or within, positive effect0
  • causally upstream of, negative effect0
  • causally upstream of, positive effect0
  • cell of skeletal muscle125
  • central nervous system neuron33
  • cerebellar neuron10
  • cerebral cortex glial cell0
  • cerebral cortex neuron6
  • channel for0
  • channels_from0
  • channels_into0
  • cholinergic neuron9
  • chorionic membrane mesenchymal stem cell0
  • ciliated cell67
  • ciliated epithelial cell12
  • ciliated epithelial cell of esophagus0
  • circulating cell13
  • composed primarily of0
  • conduit for0
  • connected to0
  • connects0
  • contributes to morphology of0
  • contributor0
  • cord blood hematopoietic stem cell0
  • creator0
  • decreased_in_magnitude_relative_to0
  • deep_to0
  • defined by inverse1
  • dental pulp cell0
  • depends on0
  • depicted by0
  • derived by descent from0
  • derived from resource0
  • dermis blood vessel endothelial cell0
  • dermis lymphatic vessel endothelial cell0
  • description0
  • determined by0
  • determined by part of0
  • determines0
  • development_notes0
  • different_in_magnitude_relative_to0
  • directly negatively regulated by0
  • directly negatively regulates0
  • directly negatively regulates activity of0
  • directly positively regulated by0
  • directly positively regulates0
  • directly positively regulates activity of0
  • directly regulated by0
  • directly regulates0
  • directly regulates activity of0
  • discarded/obsoleted synonym0
  • display label0
  • distal_to0
  • distally connected to0
  • distalmost_part_of0
  • dorsal_to0
  • drains0
  • dubious or contested synonym0
  • eco subset0
  • embryonic fibroblast0
  • enables subfunction0
  • end, days post fertilization0
  • end, months post birth0
  • end, years post birth0
  • endothelial cell of coronary artery0
  • endothelial cell of hepatic sinusoid0
  • endothelial cell of sinusoid0
  • ends0
  • ends with0
  • epithelial cell of exocrine pancreas2
  • epithelial cell of umbilical artery0
  • example of usage0
  • existence ends during0
  • existence ends during or before0
  • existence ends with0
  • existence overlaps0
  • existence starts and ends during0
  • existence starts during0
  • existence starts during or after0
  • existence starts with0
  • expand assertion to0
  • expand expression to0
  • expert consultation and attribution required0
  • extends_fibers_into0
  • external_comment0
  • external_definition0
  • external_ontology_notes0
  • fibroblast of arm0
  • fibroblast of pedal digit skin0
  • fibroblast of peridontal ligament0
  • fibroblast of skin of abdomen0
  • fibroblast of upper leg skin0
  • filtered through0
  • fma_set_term0
  • forebrain neuroblast0
  • foreskin fibroblast0
  • function_notes0
  • gallbladder fibroblast0
  • group 1 innate lymphoid cell0
  • haploid cell76
  • has branching part0
  • has component activity0
  • has component process0
  • has derived by descendant0
  • has effector activity0
  • has functional parent0
  • has ligand0
  • has member0
  • has muscle antagonist0
  • has negative regulatory component activity0
  • has parent hydride0
  • has part structure that is capable of0
  • has part that occurs in0
  • has positive regulatory component activity0
  • has quality0
  • has regulatory component activity0
  • has role0
  • has skeleton0
  • has unit0
  • has_completed0
  • has_cross_section0
  • has_gene_template0
  • has_high_plasma_membrane_amount0
  • has_low_plasma_membrane_amount0
  • has_not_completed0
  • has_relational_adjective0
  • has_relative_magnitude0
  • has_scope0
  • has_synonym_type0
  • helper property (not for use in curation)0
  • hindlimb stylopod vein endothelial cell0
  • hippocampus glial cell0
  • homologous_to0
  • homology_notes0
  • human life cycle stage0
  • hypothalamus cell0
  • immature innate lymphoid cell0
  • immediate transformation of0
  • immediate_transformation_of0
  • immediately_deep_to0
  • immediately_superficial_to0
  • implements_design_pattern0
  • in taxon1
  • in_anterior_side_of0
  • in_central_side_of0
  • in_deep_part_of0
  • in_distal_side_of0
  • in_dorsal_side_of0
  • in_innermost_side_of0
  • in_lateral_side_of0
  • in_left_side_of0
  • in_outermost_side_of0
  • in_posterior_side_of0
  • in_proximal_side_of0
  • in_right_side_of0
  • in_ventral_side_of0
  • increased_in_magnitude_relative_to0
  • indicates that a synonym is used in an inconsistent or confusing way, typically between species0
  • indirectly_supplies0
  • innate lymphoid cell0
  • inner cell mass cell0
  • innervated_by0
  • innervates0
  • insulin secreting cell34
  • interaction relation helper property0
  • interacts with0
  • intersects_midsagittal_plane_of0
  • intestinal enteroendocrine cell0
  • involved in negative regulation of0
  • involved in or involved in regulation of0
  • involved in positive regulation of0
  • involved in regulation of0
  • is a defining property chain axiom0
  • is a defining property chain axiom where second argument is reflexive0
  • is active in0
  • is conjugate acid of0
  • is conjugate base of0
  • is count of0
  • is direct form of0
  • is enantiomer of0
  • is homeomorphic for0
  • is kinase activity0
  • is negative form of0
  • is opposite of0
  • is positive form of0
  • is substituent group from0
  • is symbiosis0
  • is tautomer of0
  • lacks_part0
  • lacks_part0
  • lacks_plasma_membrane_part0
  • lateral ventricle glial cell0
  • lateral ventricle neuron0
  • latin term0
  • layer part of0
  • layperson term0
  • license0
  • liver dendritic cell0
  • location_notes0
  • lumen of0
  • luminal space of0
  • lung ciliated cell0
  • lung macrophage0
  • lung secretory cell0
  • member of1
  • mesenchymal stem cell of the bone marrow0
  • mesenchymal stem cell of abdominal adipose0
  • mesenchymal stem cell of adipose0
  • mesenchymal stem cell of femoral bone marrow0
  • mesenchymal stem cell of umbilical cord0
  • metanephric nephron tubule epithelial cell0
  • migratory cardiac neural crest cell0
  • molecular interaction relation helper property0
  • molecularly interacts with0
  • mononuclear cell of bone marrow0
  • mononuclear cell of umbilical cord0
  • motile cell148
  • multi fate stem cell130
  • multinucleate cell55
  • muscle fibroblast0
  • myotube28
  • nephron tubule epithelial cell0
  • never in taxon0
  • nucleate cell66
  • obsolete Abnormal T cell morphology0
  • obsolete Abnormal aortic morphology0
  • obsolete Abnormal concentration of calcium in blood0
  • obsolete Abnormal mitral valve morphology0
  • obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells0
  • obsolete Abnormal pupillary morphology0
  • obsolete Abnormal serum tryptase concentration0
  • obsolete Abnormal spirometry test0
  • obsolete Abnormal test result0
  • obsolete Abnormal tricuspid valve morphology0
  • obsolete Abnormal vena cava morphology0
  • obsolete Abnormality of skeletal muscles0
  • obsolete Abnormality of the sacroiliac notch0
  • obsolete Aplasia of the left hemidiaphragm0
  • obsolete Aplasia of the penis0
  • obsolete Cleft secondary palate0
  • obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells0
  • obsolete Decreased serum mast cell beta-tryptase concentration0
  • obsolete Elevated serum long-chain fatty acids0
  • obsolete Focal aware cognitive seizure with impaired attention0
  • obsolete Focal aware cognitive seizure with impaired responsiveness0
  • obsolete Focal cognitive seizure with deja vu/jamais vu0
  • obsolete Focal impaired awareness cognitive seizure with impaired attention0
  • obsolete Focal impaired awareness cognitive seizure with impaired responsiveness0
  • obsolete Focal seizures, afebril0
  • obsolete Hallucinatory aura0
  • obsolete Hyperkeratosis pilaris0
  • obsolete Illusory auras0
  • obsolete Increased body mass index0
  • obsolete Increased cholesterol esters0
  • obsolete Intraalveolar phospholipid accumulation0
  • obsolete Muscle spasm0
  • obsolete Peripheral visual field constriction with 40-50 degrees central field preserved0
  • obsolete Peripheral visual field constriction with 30-39 degrees central field preserved0
  • obsolete Renal glomerular fibrosis0
  • obsolete amino acid chain component0
  • obsolete axon part0
  • obsolete cell353
  • obsolete cell projection part0
  • obsolete chromosomal part0
  • obsolete ciliary part0
  • obsolete coenzyme metabolic process0
  • obsolete cofactor biosynthetic process0
  • obsolete cofactor metabolic process1
  • obsolete contractile fiber part0
  • obsolete cytoplasmic part0
  • obsolete cytoplasmic vesicle part0
  • obsolete extracellular matrix component0
  • obsolete extracellular region part0
  • obsolete glial cell (sensu Vertebrata)44
  • obsolete has active participant0
  • obsolete intracellular organelle part0
  • obsolete intracellular part0
  • obsolete membrane part0
  • obsolete metabolising cell16
  • obsolete mitochondrial membrane part0
  • obsolete mitochondrial part0
  • obsolete modulation by host of symbiont phagocytosis0
  • obsolete negative regulation of cofactor metabolic process0
  • obsolete negative regulation of coenzyme metabolic process0
  • obsolete neuron part0
  • obsolete non-peptidyl modified amino-acid residue0
  • obsolete nuclear chromosome part0
  • obsolete nuclear part0
  • obsolete nucleolar part0
  • obsolete organelle part0
  • obsolete peptidyl modified amino-acid residue0
  • obsolete plasma membrane bounded cell projection part0
  • obsolete plasma membrane part0
  • obsolete positive regulation of coenzyme metabolic process0
  • obsolete positive regulation of cofactor metabolic process0
  • obsolete positive regulation by host of symbiont phagocytosis0
  • obsolete receptor-type tyrosine-protein phosphatase C isoform 1 (human)0
  • obsolete regulation of coenzyme metabolic process0
  • obsolete regulation of cofactor metabolic process0
  • obsolete related via dependence to0
  • obsolete signal transduction involved in regulation of aerobic respiration1
  • obsolete vacuolar part0
  • only in taxon0
  • optic choroid fibroblast0
  • oral mucosa squamous cell0
  • output of0
  • ovarian fibroblast0
  • ovarian surface epithelial cell0
  • oxygen accumulating cell25
  • oxyphil cell of thyroid0
  • page0
  • pathological phenotype observation0
  • peptide hormone secreting cell33
  • pericardium fibroblast0
  • peripheral blood mononuclear cell0
  • peripheral nervous system neuron12
  • phalanx number0
  • pharyngeal arch number0
  • phosphorylates0
  • pituitary gland cell11
  • placental amniotic mesenchymal stromal cell0
  • placental villous trophoblast0
  • placental villus capillary endothelial cell0
  • plural form0
  • plural term0
  • postaxialmost_part_of0
  • posterior_to0
  • posteriorly connected to0
  • pre-natural killer cell0
  • preaxial_to0
  • preaxialmost_part_of0
  • preceding element is0
  • preferred term in the context of comparative anatomy0
  • preferred term when talking about an instance of this class in Homo sapiens0
  • preferred_root0
  • process has causal agent0
  • processual entity0
  • produces0
  • pronephric nephron tubule epithelial cell0
  • protects0
  • protein secreting cell39
  • proximal_to0
  • proximally connected to0
  • proximalmost_part_of0
  • ray number0
  • receives input from0
  • reciprocal_of0
  • regulates activity of0
  • relation between physical entity and a process or stage0
  • rhombomere number0
  • rib number0
  • role0
  • sebaceous gland cell0
  • secretory cell98
  • see also6
  • sends output to0
  • sequence_feature0
  • serially homologous to0
  • sexually_homologous_to0
  • single nucleate cell14
  • skeletal muscle tissue of pectoralis major striated muscle cell0
  • skeleton of0
  • somatotropin secreting cell13
  • spatially disjoint from0
  • spermatogonium173
  • spinal cord oligodendrocyte0
  • splenic endothelial cell0
  • splenic fibroblast0
  • splenocyte0
  • start, days post fertilization0
  • start, months post birth0
  • start, years post birth0
  • starts0
  • starts with0
  • steroid hormone secreting cell22
  • structure_notes0
  • subatomic particle0
  • subdivision of0
  • superficial_to0
  • supplies0
  • surrounds0
  • synonym that is inappropriate for amniotes0
  • synonym that is inappropriate for mammals0
  • synonym_type_property0
  • taxon_notes0
  • taxonomic disambiguation0
  • term tracker item0
  • terminology_notes0
  • testosterone secreting cell10
  • title0
  • tongue muscle cell0
  • tonsil germinal center B cell0
  • towards0
  • transformation of0
  • transitively anteriorly connected to0
  • transitively distally connected to0
  • transitively proximally connected to0
  • transitively_connected to0
  • trunk_part_of0
  • umbilical artery endothelial cell0
  • ventral_to0
  • ventricular cardiac muscle cell0
  • vertebra number0
  • visual system neuron0
  • 2D boundary of0
  • OBO foundry unique label0
  • adjacent to0
  • alternative term0
  • ambiguous for taxon0
  • attached to0
  • attached to part of0
  • axiom holds for all times0
  • branching part of0
  • by_means0
  • capable of0
  • capable of part of0
  • causally downstream of0
  • causally related to0
  • causally upstream of0
  • contained in2
  • contains0
  • contains process0
  • continuous with0
  • contributes to0
  • curator note0
  • definition source0
  • derived from ancestral fusion of0
  • derives from0
  • derives into0
  • developmentally contributes to0
  • developmentally induced by0
  • developmentally induces0
  • developmentally preceded by0
  • developmentally related to0
  • developmentally replaces0
  • developmentally succeeded by0
  • develops from0
  • develops from part of0
  • develops in0
  • develops into0
  • directly develops from0
  • directly develops into0
  • dubious for taxon0
  • editor note0
  • editor preferred term0
  • elucidation0
  • enabled by0
  • enables0
  • ends after0
  • evolutionarily related to0
  • first order logic expression0
  • formed as result of0
  • function of0
  • functionally related to0
  • has 2D boundary0
  • has component0
  • has curation status0
  • has developmental contribution from0
  • has developmental potential involving0
  • has end location0
  • has function0
  • has input0
  • has muscle insertion0
  • has muscle origin0
  • has output0
  • has participant0
  • has plasma membrane part0
  • has potential to develop into0
  • has potential to developmentally contribute to0
  • has potential to developmentally induce0
  • has potential to directly develop into0
  • has soma location0
  • has start location0
  • has-input0
  • has_participant0
  • immediately causally downstream of0
  • immediately causally upstream of0
  • immediately preceded by0
  • immediately precedes0
  • imported from0
  • in branching relationship with0
  • inheres in0
  • inheres in part of0
  • input of0
  • involved in0
  • located in0
  • location of0
  • logical macro assertion on an annotation property0
  • mereotopologically related to0
  • negatively regulated by0
  • negatively regulates0
  • obsolete Abnormal cellular physiology0
  • obsolete Decreased activity of complement receptor0
  • obsolete Decreased proportion of CD4+ central memory cells0
  • obsolete Increased proportion of CD4+ central memory cells0
  • obsolete Segmental myoclonic seizures0
  • obsolete Simple partial occipital seizures0
  • obsolete actively participates in0
  • obsolete downstream in neural circuit with0
  • obsolete in neural circuit with0
  • obsolete upstream in neural circuit with0
  • overlaps0
  • part of developmental precursor of0
  • part of structure that is capable of0
  • participates in0
  • pending final vetting0
  • positively regulated by0
  • positively regulates0
  • preceded by0
  • precedes0
  • present in taxon0
  • produced by0
  • qualifier0
  • quality of0
  • ready for release0
  • regulated by0
  • regulates0
  • requires discussion0
  • results in developmental progression of0
  • results in formation of0
  • role of0
  • spatially coextensive with0
  • surrounded by0
  • synapsed by0
  • synapsed to0
  • temporal interpretation0
  • temporally related to0
  • term editor0
  • tributary of0
  • All0
  • consider0
  • database_cross_reference0
  • definition0
  • has modifier0
  • has_alternative_id0
  • has_broad_synonym0
  • has_exact_synonym0
  • has_narrow_synonym0
  • has_obo_format_version0
  • has_obo_namespace0
  • has_part0
  • has_related_synonym0
  • in_subset0
  • logical-definition-view-relation0
  • obsolete Abnormal CSF amino acid level0
  • obsolete Abnormal cardiological findings0
  • obsolete Abnormal cholesterol homeostasis0
  • obsolete Abnormal dermatological laboratory findings0
  • obsolete Abnormal form of the 5th finger0
  • obsolete Abnormal globe morphology0
  • obsolete Abnormal heart morphology0
  • obsolete Abnormal morphology of bones of the lower limbs0
  • obsolete Abnormal morphology of bones of the upper limbs0
  • obsolete Abnormal ossification of hand bones0
  • obsolete Abnormalities of the peripheral arteries0
  • obsolete Abnormality of globe location or size0
  • obsolete Abnormality of the bronchi0
  • obsolete Abnormality of the ocular region0
  • obsolete Abnormality of the retinal pigment epithelium0
  • obsolete Abnormality of glycoprotein metabolism0
  • obsolete Abnormality of histidine metabolism0
  • obsolete Abnormality of proteoglycan metabolism0
  • obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger0
  • obsolete Abnormality of hair density0
  • obsolete Abnormality of cells of the lymphoid lineage0
  • obsolete Abnormality of common carotid artery plus branches0
  • obsolete Abnormality of cartilage morphology0
  • obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs0
  • obsolete Absence seizures with special features0
  • obsolete Accessory middle phalanx of middle finger0
  • obsolete Accessory middle-finger phalanges0
  • obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)0
  • obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits0
  • obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis0
  • obsolete Age-related macular degeneration0
  • obsolete Alopecia areata0
  • obsolete Amyloid cardiomyopathy0
  • obsolete Anaphylactoid purpura0
  • obsolete Anomaly of the limb diaphyses morphology0
  • obsolete Aortic dilatation0
  • obsolete Aplasia of the phalanges of the 3rd finger0
  • obsolete Aplasia/Hypoplasia of the choroid0
  • obsolete Arterial disease of legs0
  • obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia0
  • obsolete Autonomic dysregulation0
  • obsolete Bifid thumb distal phalanx0
  • obsolete Bilateral choroid coloboma0
  • obsolete Bilateral retinal coloboma0
  • obsolete Biliary tract neoplasm0
  • obsolete Bony spicule of ulnar epiphyseal plate0
  • obsolete Bracket epiphyses of the 4th finger0
  • obsolete Brain very small0
  • obsolete Butterfly retinal pigment epithelial dystrophy0
  • obsolete Calcific aortic valve stenosis0
  • obsolete Calcific mitral stenosis0
  • obsolete Cataracts develop in second or third decade0
  • obsolete Cellulitis due to immunodeficiency0
  • obsolete Central tapetoretinal dystrophy0
  • obsolete Chevron-shaped/cone-shaped radius0
  • obsolete Chorioretinopathy0
  • obsolete Choroid coloboma0
  • obsolete Choroidal degeneration0
  • obsolete Choroidal dystrophy0
  • obsolete Choroidal sclerosis0
  • obsolete Chronic obstructive airway disease from birth0
  • obsolete Chronic recurrent multifocal osteomyelitis0
  • obsolete Cleft of uvula0
  • obsolete Clitoromegaly0
  • obsolete Combined hyperlipidemia0
  • obsolete Concentric narrowing of visual field0
  • obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger0
  • obsolete Congenital strabismus0
  • obsolete Congenital chorioretinal dystrophy0
  • obsolete Congenital exotropia0
  • obsolete Congenital myopia0
  • obsolete Congenital neutropenia0
  • obsolete Congenital nuclear cataract0
  • obsolete Congenital septal defect0
  • obsolete Congenital visual impairment0
  • obsolete Coronary atherosclerosis0
  • obsolete Corticospinal tract disease in lower limbs0
  • obsolete Decreased circulating aldosterone level0
  • obsolete Decreased retinal pigmentation with dispersion0
  • obsolete Decreased subcutaneous fat0
  • obsolete Decreased testosterone in males0
  • obsolete Decreased urinary glucose concentration0
  • obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA0
  • obsolete Degenerative joint disease0
  • obsolete Depigmented lesions of the retinal pigment epithelium0
  • obsolete Diaphoresis (with pheochromocytoma)0
  • obsolete Diffuse retinal cone degeneration0
  • obsolete Dilatation of ascending aorta0
  • obsolete Dilatation of abdominal aorta0
  • obsolete Dilatation of the ascending aorta0
  • obsolete Dilatation of the descending aorta0
  • obsolete Dissecting aortic dilatation0
  • obsolete Duplication of terminal index finger phalanx0
  • obsolete Dysautonomia0
  • obsolete Early cataracts0
  • obsolete Ectopic anterior pituitary0
  • obsolete Endometriosis0
  • obsolete Episodes of ventricular tachycardia0
  • obsolete Exaggerated cellular immune processes0
  • obsolete Excessive daytime sleepiness0
  • obsolete Expanded phalanges of the ring finger0
  • obsolete Expanded proximal phalanx of the ring finger0
  • obsolete Facial diplegic appearance0
  • obsolete Familial predisposition0
  • obsolete Finger joint hyperextensibility0
  • obsolete Fishnet retinal pigmentation0
  • obsolete Flared metaphysis of middle phalanx of index finger0
  • obsolete Flat midface0
  • obsolete Focal autonomic seizures without altered responsiveness0
  • obsolete Focal autonomic seizures with altered responsiveness0
  • obsolete Foveal dystrophy0
  • obsolete Foveal hyperplasia0
  • obsolete Fused epiphysis of terminal phalanx of the middle finger0
  • obsolete Generalized osteoporosis with pathologic fractures0
  • obsolete Glioblastoma0
  • obsolete Glucose intolerance0
  • obsolete Gray matter heterotopias0
  • obsolete Hepatic abscesses due to immunodeficiency0
  • obsolete Hoarse voice (caused by tumor impingement)0
  • obsolete Hypermenorrhea0
  • obsolete Hypertrophic labia minora0
  • obsolete Hypopigmented fundi0
  • obsolete Hypoplasia of choroid0
  • obsolete Hypoplasia of deltoid muscle0
  • obsolete Hypoplastic phalanges of the ring finger0
  • obsolete Hypoplastic/small phalanges of the 3rd finger0
  • obsolete Hypotrichosis0
  • obsolete Hypotrichosis of the scalp0
  • obsolete Impaired FSH and LH secretion0
  • obsolete Increased circulating gonadotropin level0
  • obsolete Increased prevalence of valvular disease0
  • obsolete Increased proportion of peripheral CD3+ T cells0
  • obsolete Increased serum 1,25-dihydroxyvitamin D30
  • obsolete Increased urinary orotic acid concentration0
  • obsolete Involuntary jerking movements0
  • obsolete Involuntary writhing movements0
  • obsolete Irido-fundal coloboma0
  • obsolete Iridoretinal coloboma0
  • obsolete Joint dislocations in young adult0
  • obsolete Joint swelling onset late infancy0
  • obsolete Juvenile cortical cataract0
  • obsolete Juvenile zonular cataracts0
  • obsolete Lack of subcutaneous fatty tissue0
  • obsolete Lacunar retinal depigmentation0
  • obsolete Large artery calcification0
  • obsolete Large epiphysis of terminal phalanx of the middle finger0
  • obsolete Laterally deviated terminal thumb phalanx0
  • obsolete Laterally deviated thumb phalanges0
  • obsolete Ligamentous laxity0
  • obsolete Loss of heterozygosity, multiple chromosomes0
  • obsolete Low gonadotropins (secondary hypogonadism)0
  • obsolete Lung segmentation defects0
  • obsolete Lytic defects of the proximal phalanx of the ring finger0
  • obsolete Macrocephaly due to hydrocephalus0
  • obsolete Macrosaccadic oscillation0
  • obsolete Malformation of the heart and great vessels0
  • obsolete Markedly reduced T cell function0
  • obsolete Mental retardation, in some0
  • obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger0
  • obsolete Mildly reduced visual acuity0
  • obsolete Narrow sacroiliac notch0
  • obsolete Neoplasia of the nose0
  • obsolete Nodular calcific aortic valve disease0
  • obsolete Nonnuclear polymorphic congenital cataract0
  • obsolete Nonprogressive congenital retinal dystrophy0
  • obsolete Occlusive vascular disease0
  • obsolete Osteomyelitis due to immunodeficiency0
  • obsolete Overgrowth of middle finger0
  • obsolete Palpitations (with pheochromocytoma)0
  • obsolete Papillary cystadenoma of the epididymis0
  • obsolete Paraganglioma-related cranial nerve palsy0
  • obsolete Partial aniridia0
  • obsolete Partial cellular immunodeficiency0
  • obsolete Pericentral pigmentary retinopathy0
  • obsolete Pericentral retinal dystrophy0
  • obsolete Periosteal new bone of middle finger phalanges0
  • obsolete Periosteal new bone of middle phalanx of middle-finger0
  • obsolete Peripheral arterial stenosis0
  • obsolete Peripheral artery occlusive disease0
  • obsolete Peripheral retinal cone degeneration0
  • obsolete Peripheral retinopathy0
  • obsolete Peripheral vascular insufficiency0
  • obsolete Peripheral retinal pigmentation abnormalities0
  • obsolete Pharyngeal neoplasm0
  • obsolete Pigmentary retinal degeneration0
  • obsolete Pigmentary retinal deposits0
  • obsolete Pinealoblastoma0
  • obsolete Platyspondyly (childhood)0
  • obsolete Pointed frontal hairline0
  • obsolete Precocious menopause0
  • obsolete Premature peripheral vascular disease0
  • obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger0
  • obsolete Prenatal short stature0
  • obsolete Primary T-lymphocyte immune abnormalities0
  • obsolete Primary ovarian failure0
  • obsolete Progressive bifocal chorioretinal atrophy0
  • obsolete Progressive central visual loss0
  • obsolete Progressive macular scarring0
  • obsolete Progressive retinal degeneration0
  • obsolete Prominent epicanthal folds0
  • obsolete Pseudoepiphysis of the 2nd metacarpal0
  • obsolete Psychic auras0
  • obsolete Pulsatile tinnitus (tympanic paraganglioma)0
  • obsolete Radial deviation of the thumb0
  • obsolete Radially deviated terminal index finger phalanx0
  • obsolete Radially deviated index finger phalanges0
  • obsolete Radially displaced proximal index finger phalanx0
  • obsolete Radially pointed middle finger phalanges0
  • obsolete Radially pointed proximal middle-finger phalanx0
  • obsolete Rarefaction of retinal pigmentation0
  • obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration0
  • obsolete Reduced prothrombin activity0
  • obsolete Renal aminoaciduria0
  • obsolete Respiratory difficulties0
  • obsolete Restrictive deficit on pulmonary function testing0
  • obsolete Restrictive heart failure0
  • obsolete Retinal malformation0
  • obsolete Retinal pigment epithelial atrophy0
  • obsolete Retinal striation0
  • obsolete Rhythm disturbances associated with pheochromocytoma0
  • obsolete Rod-cone dystrophy0
  • obsolete Rudimentary to absent fibulae0
  • obsolete Severe T lymphocytopenia0
  • obsolete Severe neonatal hypotonia in males0
  • obsolete Severe viral infections0
  • obsolete Short curly eyelashes0
  • obsolete Short phalanges of the ring finger0
  • obsolete Short proximal phalanx of the ring finger0
  • obsolete Shortening of the tibia0
  • obsolete Slitlike anterior chamber angles in children0
  • obsolete Small anterior lens surface opacities0
  • obsolete Small vertebral bodies0
  • obsolete Tachycardia (with pheochromocytoma)0
  • obsolete Tapetoretinal degeneration0
  • obsolete Temporal displacement of maculae0
  • obsolete Thin fingernail (obsolete)0
  • obsolete Thin toenail0
  • obsolete Thumbs hypo/aplastic0
  • obsolete Tiger-tail banding0
  • obsolete Total cataract0
  • obsolete Tracheal neoplasm0
  • obsolete Transposition of the great arteries with ventricular septal defect0
  • obsolete Transposition of the great arteries with intact ventricular septum0
  • obsolete Ulnar deviation of the thumb0
  • obsolete Vegetative auras0
  • obsolete Vitreoretinal degeneration0
  • obsolete Vocal cord paralysis (caused by tumor impingement)0
  • obsolete White matter neuronal heterotopia0
  • obsolete Wide/broad phalanges of the ring finger0
  • obsolete Widening of the sacrosciatic notch0
  • occurs in0
  • part of0
  • shorthand0
  • subset_property19
  • term replaced by0
  • towards0
URI
http://purl.obolibrary.org/obo/uberon/core#DEPRECATED
Label
A historic synonym, no longer encouraged