18:12:2009 16:20 csmith MPheno.ontology The Mammalian Phenotype Ontology is being developed by Cynthia L. Smith, Susan M. Bello, Carroll W. Goldsmith and Janan T. Eppig, as part of the Mouse Genome Database (MGD) Project, Mouse Genome Informatics (MGI), The Jackson Laboratory, Bar Harbor, ME. Copyright 2007 The Jackson Laboratory. This file contains pre-coordinated phenotype terms, definitions and synonyms that can be used to describe mammalian phenotypes. The ontology is represented as a directed acyclic graph (DAG). It organizes phenotype terms into major biological system headers such as nervous system and respiratory system. Behavior and lethality terms are also represented. This ontology is currently under development. Daily updates are available at the Mouse Genome Informatics (MGI) ftp site (ftp://ftp.informatics.jax.org/pub/reports/index.html#pheno) as well as the OBO Foundry site (http://obofoundry.org/). Questions, comments and suggestions are welcome, and should be directed to pheno@informatics.jax.org MGD is funded by NIH/NHGRI grant HG000330. MPheno.ontology This is an OWL translation of an ontology whose native representational form is .obo. The translation was performed using the oboInOwl xslt library. For details, see http://www.berkeleybop.org/obo-conv.cgi mammalian phenotype the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology Morphology Anatomy MPheno.ontology abnormal adipose tissue morphology structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue MESH:A10.165.114 http://purl.org/obo/owl/MESH#MESH_A10.165.114 MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL adipose tissue abnormalities adipose tissue dysplasia MPheno.ontology MP:0000011 increased brown adipose tissue amount increased amount of the thermogenic form of adipose tissue that is composed of brown adipocytes MESH:A10.165.114.322 http://purl.org/obo/owl/MESH#MESH_A10.165.114.322 increased brown fat increased brown fat amount MPheno.ontology MP:0001779 increased white adipose tissue amount increased quantity of fat-storing cells/tissue MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL increased white fat increased white fat amount MPheno.ontology MP:0001782 abnormal abdominal fat pad morphology any structural anomaly of the encapsulated adipose tissue in the abdomen PMID:8941642 http://purl.org/obo/owl/PMID#PMID_8941642 abnormal abdominal fat depot morphology MPheno.ontology loss of subcutaneous adipose tissue Obsolete. Use instead the terms decreased subcutaneous adipose tissue amount (MP:0008844) or absent subcutaneous adipose tissue (MP:0008843). reduction in amount or absence of adipose tissue beneath the skin PMID:8941642 http://purl.org/obo/owl/PMID#PMID_8941642 MPheno.ontology abnormal adipose tissue distribution alterations in the normal placement of body fat PMID:10471508 http://purl.org/obo/owl/PMID#PMID_10471508 abnormal fat distribution MPheno.ontology abnormal ear pigmentation anomaly in the coloration of the ear MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology big ears outer ears of a greater than normal size MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology small ears outer ears of a smaller than normal size MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL microtia MPheno.ontology thick ears increased width of the epidermal and cartilaginous tissue that makes up the ear PMID:1709129 http://purl.org/obo/owl/PMID#PMID_1709129 MPheno.ontology scaly ears ears covered with shedding scales or flakes PMID:1709129 http://purl.org/obo/owl/PMID#PMID_1709129 MPheno.ontology prominent ears protuberant outer ears PMID:10769039 http://purl.org/obo/owl/PMID#PMID_10769039 MPheno.ontology abnormal ear shape any structural anomaly of the pattern of the external ear PMID:10921880 http://purl.org/obo/owl/PMID#PMID_10921880 MPheno.ontology abnormal ear distance/ position anomaly in the space between or the placement of the outer ears MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology lowered ear position outer ears which are situated below the normal location MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology otic hypertelorism greater than normal space between the outer ears MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL hypertelorism of ears increased distance between the ears MPheno.ontology abnormal inner ear morphology any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL inner ear dysplasia MPheno.ontology GO:0042472 http://purl.org/obo/owl/GO#GO_0042472 horizontal canal defects MPheno.ontology abnormal pars superior vestibularis morphology structural anomaly in the part of the vestibular ganglion that receives fibers from the maculae of the utricle and the sacculae and the ampullae of the anterior and lateral semicircular ducts ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal pars superior vestibularis MPheno.ontology abnormal malleus morphology any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal malleus MPheno.ontology abnormal tympanic ring morphology any structural anomaly of the bony ring at the ear canal to which the tympanic membrane is attached ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal tympanic ring MPheno.ontology abnormal cochlea morphology any structural anomaly of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL cochlear dysplasia MPheno.ontology cochlear degeneration a retrogressive impairment of function or destruction of the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology absent scala media missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL absent cochlear duct MPheno.ontology abnormal vestibule morphology any structural anomaly of the cavity between the semicircular canals and the cochlea of the inner ear ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL vestibular dysplasia MPheno.ontology abnormal membranous labyrinth any structural anomaly of the complex arrangement of communicating canaliculi and sacs suspended within the cavity of the bony labyrinth of the inner ear ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology absent semicircular canals missing organ of balance; consists of three bony tubes within which the semicircular ducts are located ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology abnormal lateral semicircular canal any structural anomaly of the lateral long bony tube of the labyrinth that is involved in the sense of balance MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MGI:smb_"Susan_M._Bello http://purl.org/obo/owl/MGI#MGI_smb_"Susan_M._Bello Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal horizontal semicircular canal MPheno.ontology thin semicircular canals decreased diameter of the three long bony tubes of the labyrinth that are involved in the sense of balance MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology abnormal otic capsule morphology any structural anomaly of the cartilage or bony capsule surrounding the inner ear mechanism ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal periotic capsule MPheno.ontology absent middle ear ossicles missing small bones of the tympanic cavity ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:1346922 http://purl.org/obo/owl/PMID#PMID_1346922 MPheno.ontology absent endolymphatic duct missing small membranous canal of the inner ear; connecting membranous labyrinth with the endolymphatic sac ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology abnormal organ of Corti abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal spiral organ MPheno.ontology organ of Corti degeneration a retrogressive impairment of function or destruction of all or part the highly specialized epithelium in the floor of the ductus cochlearis MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL degeneration of organ of Corti MPheno.ontology absent organ of Corti absence of the highly specialized epithelium in the floor of the ductus cochlearis PMID:10072433 http://purl.org/obo/owl/PMID#PMID_10072433 absent acoustic papilla absent spiral organ MPheno.ontology abnormal hair cell morphology any structural anomaly of the sensory epithelial cells of the inner ear ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:pvb_"Pierre_Vanden_Borre http://purl.org/obo/owl/MGI#MGI_pvb_"Pierre_Vanden_Borre Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal hair cells MPheno.ontology abnormal sulcus ampullaris morphology anomaly in the structure of the transverse groove on the membranous amupulla of each semicircular duct, where the nerve enters the ampullary crest ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal ampullary groove abnormal ampullary sulcus MPheno.ontology abnormal interdental cells MPheno.ontology abnormal stria vascularis any structural abnormality in the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph; stria vascularis normally consists of marginal, intermediate, and basal cells: basal and marginal cell tight junctions preclude paracellular diffusion into and out of the intrastrial space while basal and intermediate cells secrete into this space potassium ions derived from fibrocytes through gap junctions ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal psalterial cord abnormal stria vascularis ductus cochlearis abnormal vascular stripe MPheno.ontology abnormal middle ear morphology any structural anomaly of any components of the tympanic cavity or its ossicles ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL middle ear dysplasia MPheno.ontology absent process brevus MPheno.ontology early ear unfolding early onset of the opening and spreading out of the outer ear PMID:9135074 http://purl.org/obo/owl/PMID#PMID_9135074 MPheno.ontology excessive ear growth overly robust development of the ear PMID:9135074 http://purl.org/obo/owl/PMID#PMID_9135074 MPheno.ontology delayed ear emergence late onset of the growth of the outer ear PMID:9722615 http://purl.org/obo/owl/PMID#PMID_9722615 delayed ear elevation delayed ear extroversion MPheno.ontology abnormal osteogenesis anomaly in the process of initial bone formation; does not refer to the process of bone formation during remodeling in mature mice ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal osteogenesis osteogenesis abnormalities MPheno.ontology MP:0001535 MP:0001536 delayed bone ossification late onset of the formation of bone PMID:9144284 http://purl.org/obo/owl/PMID#PMID_9144284 MPheno.ontology fragile skeleton easily damaged or broken bones PMID:8393145 http://purl.org/obo/owl/PMID#PMID_8393145 brittle bones general bone weakness increased susceptibility to bone fracture MPheno.ontology MP:0001543 increased bone density increased mineral content of bone; indicator of bone strength ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 MPheno.ontology decreased bone density decreased mineral content of bone; indicator of bone strength ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10471508 http://purl.org/obo/owl/PMID#PMID_10471508 osteopenia reduced bone density MPheno.ontology failure of secondary bone resorption inability to degrade the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 PMID:1997203 http://purl.org/obo/owl/PMID#PMID_1997203 MPheno.ontology abnormal bone marrow cavity morphology Note that this term refers to the structure of the cavity itself, not to the contents of the cavity (i.e. the bone marrow). any structural anomaly of the medullary cavities of the bones ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 abnormal bone marrow cavities MPheno.ontology osteoporosis reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10471508 http://purl.org/obo/owl/PMID#PMID_10471508 reduced bone mass MPheno.ontology osteopetrosis excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:C05.116.099.708.702.678 http://purl.org/obo/owl/MESH#MESH_C05.116.099.708.702.678 MPheno.ontology kyphoscoliosis kyphosis combined with scoliosis MGI:cml_"Cathleen_M._Lutz http://purl.org/obo/owl/MGI#MGI_cml_"Cathleen_M._Lutz Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:11136708 http://purl.org/obo/owl/PMID#PMID_11136708 MPheno.ontology axial skeleton hypoplasia underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10572046 http://purl.org/obo/owl/PMID#PMID_10572046 hypoplastic axial skeleton MPheno.ontology absent craniofacial bones missing skeletal elements comprising the cranium and face PMID:8837770 http://purl.org/obo/owl/PMID#PMID_8837770 absence of craniofacial bones MPheno.ontology abnormal neurocranium morphology any structural anomaly of the bones of the skull enclosing the brain ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10572046 http://purl.org/obo/owl/PMID#PMID_10572046 abnormal neurocranium MPheno.ontology absent neurocranium missing bones of the skull enclosing the brain ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 absence of neurocranium MPheno.ontology abnormal calvaria morphology any structural anomaly of the upper domelike portion of the skull PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 abnormal calvaria abnormal cranial vault MPheno.ontology abnormal interparietal bone morphology any structural anomaly of the bone of the cranium that lies above and anterior to the occipital bone in some mammals MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 abnormal interparietal bone MPheno.ontology MP:0000110 abnormal supraoccipital bone morphology any structural anomaly of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 abnormal supraoccipital bone MPheno.ontology abnormal basioccipital bone morphology any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal basioccipital bone MPheno.ontology abnormal exoccipital bone morphology any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:1680563 http://purl.org/obo/owl/PMID#PMID_1680563 abnormal exoccipital bone MPheno.ontology premature suture closure early fusion of the bones of the skull PMID:7597092 http://purl.org/obo/owl/PMID#PMID_7597092 craniostosis craniosynostosis MPheno.ontology MP:0005268 overlapping parietal bones parietal bones of the skull partly coincide instead of articulating PMID:7597092 http://purl.org/obo/owl/PMID#PMID_7597092 MPheno.ontology ectopic cranial bone growth growth of extra bony structures in or near the cranium PMID:7597092 http://purl.org/obo/owl/PMID#PMID_7597092 heterotopic cranial bone growth MPheno.ontology abnormal fontanelle morphology structural defect in the membranous interval at the margins of cranial bones in neonates ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 abnormal fontanel abnormal fontanelle MPheno.ontology large anterior fontanelle enlarged diamond-shaped membranous interval at the junction of the coronal, sagittal and metopic sutures of the cranium ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 large anterior fontanel MPheno.ontology absent mandible missing the lower bony framework of the mouth where the inferior teeth are held ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL absence of mandible agnathia MPheno.ontology short mandible reduced length of the lower bony framework of the mouth where the inferior teeth are held MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL reduced mandible length truncated mandible MPheno.ontology absent premaxilla missing anterior and interior portion of the maxilla ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 absence of premaxilla MPheno.ontology short premaxilla reduced length of the anterior and interior portion of the maxilla ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 short incisive bone truncated maxilla MPheno.ontology absent alveolar process missing projecting ridge on the inferior surface of the body of the maxilla and mandible containing the tooth sockets ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 absence of alveolar process absent alveolar bone absent alveolar ridge MPheno.ontology short maxilla reduced length of the upper jaw bone ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 reduced upper jaw length MPheno.ontology MP:0000093 abnormal vomer bone morphology any structural anomaly of the triangular flat bone of the nasal septum ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal vomer bone MPheno.ontology absent vomer bone missing triangular flat bone of the nasal septum ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 absence of vomer bone MPheno.ontology abnormal ethmoidal bone morphology defect in the midline facial bone that encloses the nasal cavity ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal ethmoid bone abnormal ethmoidal bone MPheno.ontology absent ethmoidal bone missing midline facial bone that encloses the nasal cavity ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 absent ethmoidal bone MPheno.ontology abnormal nasal bone morphology any structural anomaly of either of two rectangular bone plates forming the bridge of the nose ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 abnormal nasal bone MPheno.ontology nasal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the bone which forms the nasal bridge PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 hypoplastic nasal bone MPheno.ontology abnormal sphenoid bone morphology any structural anomaly of the irregularly shaped bone of the base of the skull ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 abnormal sphenoid bone MPheno.ontology impaired ossification of basisphenoid bone anomaly in the formation of the bone at the base of the sphenoid bone; arises from an ossification center independent of the remainder of the sphenoid bone ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 defective ossification of basisphenoid MPheno.ontology abnormal basisphenoid bone morphology any structural anomaly of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal basisphenoid bone MPheno.ontology abnormal frontal bone morphology any structural anomaly of the bone forming the forehead and roof of the eye orbit ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 abnormal frontal bone MPheno.ontology midline facial cleft incomplete merging or fusion of the tissues (e.g. the two globular processes) along the facial midline that normally unite to form the face ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 MPheno.ontology abnormal parietal bone morphology any structural anomaly of the curved bone forming part of the vault of the cranium PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 abnormal parietal bone MPheno.ontology cleft palate congenital fissure of the tissues normally uniting to form the palate ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9753320 http://purl.org/obo/owl/PMID#PMID_9753320 MPheno.ontology MP:0000429 cleft chin incomplete fusion of the chin; usually a fissure ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9256350 http://purl.org/obo/owl/PMID#PMID_9256350 MPheno.ontology abnormal tooth development any anomaly in the formation of the teeth MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL tooth development abnormalities MPheno.ontology absent tooth primordium missing the cells that will give rise to teeth MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10227294 http://purl.org/obo/owl/PMID#PMID_10227294 absence of tooth anlage absence of tooth primordium MPheno.ontology arrest of tooth development failure of differentiation of the teeth PMID:7958926 http://purl.org/obo/owl/PMID#PMID_7958926 MPheno.ontology abnormal tooth eruption anomalies in the passage of a tooth through the alveolar process and perforation of the gums ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL tooth eruption abnormalities MPheno.ontology malocclusion perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 misaligned teeth MPheno.ontology failure of tooth eruption inability of the teeth to grow into the oral cavity ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 MPheno.ontology accelerated tooth eruption early onset of the growth of the teeth out of the gums PMID:1709129 http://purl.org/obo/owl/PMID#PMID_1709129 MPheno.ontology absent teeth absence of some or all of the bony structures of the upper and lower jaws used in mastication ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 MPheno.ontology absent incisors missing the pairs of long pointed teeth that are the most anterior and prominent in the jaw PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 absence of incisors MPheno.ontology brittle teeth fragile and likely to break teeth PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 MPheno.ontology degenerated molars atrophy of the molars PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 MPheno.ontology growth retardation of molars developmental delay of the growth of the molars PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 MPheno.ontology ameloblast degeneration a retrogressive impairment of function or destruction of the epithelial cells of the inner later of the enamel organ of the developing tooth ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 degeneration of ameloblasts MPheno.ontology abnormal cancellous bone morphology structural anomaly of bone that has a lattice-like or spongy structure ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal cancellous bone abnormal spongy bone abnormal spongy spongiosa abnormal spongy substance abnormal substantia trabecularis abnormal trabecular bone MPheno.ontology abnormal long bone epiphysis morphology any structural anomaly of the rounded end of a long bone PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 abnormal epiphysis abnormal long bone epiphysis morphology MPheno.ontology thickened long bone epiphysis wider than normal rounded end of a long bone ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 MPheno.ontology abnormal long bone metaphysis morphology any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10709991 http://purl.org/obo/owl/PMID#PMID_10709991 abnormal long bone metaphysis abnormal metaphysis MPheno.ontology abnormal cortical bone thickness reduced or increased width of the superficial layer of compact bone ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10581033 http://purl.org/obo/owl/PMID#PMID_10581033 cortical bone thickness abnormalities MPheno.ontology decreased cortical bone thickness thinner than normal superficial layer of compact bone PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 reduced cortical bone thickness MPheno.ontology abnormal microglial cell morphology any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques PMID:16322748 http://purl.org/obo/owl/PMID#PMID_16322748 MPheno.ontology abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal vertebrae vertebra defect MPheno.ontology MP:0001538 absent vertebrae missing all of the bony segments of the spinal column PMID:8837770 http://purl.org/obo/owl/PMID#PMID_8837770 absence of vertebrae MPheno.ontology absent vertebral transverse processes loss of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes PMID:10804168 http://purl.org/obo/owl/PMID#PMID_10804168 PMID:10804169 http://purl.org/obo/owl/PMID#PMID_10804169 absence of transverse processes MPheno.ontology absent vertebral pedicles loss of the two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10804168 http://purl.org/obo/owl/PMID#PMID_10804168 PMID:10804169 http://purl.org/obo/owl/PMID#PMID_10804169 absence of pedicles MPheno.ontology abnormal vertebral body morphology any structural anomaly of the main cylindrical portion of the vertebra ventral to the vertebral canal ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10572046 http://purl.org/obo/owl/PMID#PMID_10572046 abnormal vertebral bodies MPheno.ontology An Extra Piece of Bone Rostral to C1 MPheno.ontology Broadening/Splitting of the Neural Arch of C2 MPheno.ontology abnormal shoulder/ pelvic girdle morphology any structural anomaly of the bones of the shoulder or of the bones of the pelvis by which the limbs attach to the axial skeleton ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal shoulder/ pelvic girdle shoulder/ pelvic girdle defect MPheno.ontology MP:0001540 abnormal scapula morphology any structural anomaly of either or both of the large, flat bones of the back part of the shoulder ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal scapula MPheno.ontology abnormal rib morphology any structural anomaly of the bones forming the bony wall of the chest ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9778510 http://purl.org/obo/owl/PMID#PMID_9778510 abnormal ribs rib defect MPheno.ontology absent ribs absence of all the pairs of bony structures that make up the body wall PMID:7925010 http://purl.org/obo/owl/PMID#PMID_7925010 absence of ribs MPheno.ontology absent proximal rib missing part of rib structures near the spine, ribs do not contact vertebrae PMID:10804168 http://purl.org/obo/owl/PMID#PMID_10804168 PMID:10804169 http://purl.org/obo/owl/PMID#PMID_10804169 absence of proximal ribs MPheno.ontology rib bifurcation forking or division of ribs, may be a result of partial rib fusions ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology rib fusion appearance of one or more ribs as a single structure PMID:10804168 http://purl.org/obo/owl/PMID#PMID_10804168 PMID:10804169 http://purl.org/obo/owl/PMID#PMID_10804169 fusion of ribs MPheno.ontology asymmetric rib attachment loss of bilateral symmetry in rib attachments to the vertebral column or to the sternum PMID:7925010 http://purl.org/obo/owl/PMID#PMID_7925010 MPheno.ontology Presence of 6 Vertebrosternal Ribs instead of 7 MPheno.ontology abnormal sternum morphology any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7925010 http://purl.org/obo/owl/PMID#PMID_7925010 abnormal sternum sternum defect MPheno.ontology absent sternum missing long flat bone of the chest; articulates with clavicle and first seven rib pairs ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10885747 http://purl.org/obo/owl/PMID#PMID_10885747 MPheno.ontology abnormal xiphoid process any structural anomaly of the posterior tip of the sternum ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:42932 http://purl.org/obo/owl/J#J_42932 abnormal xiphisternum abnormal xiphoid cartilage abnormal xyphoid process xiphoid process defect MPheno.ontology kyphosis forward curvature of the spine, characterized by extensive flexion. ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cml_"Cathleen_M._Lutz http://purl.org/obo/owl/MGI#MGI_cml_"Cathleen_M._Lutz Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10804168 http://purl.org/obo/owl/PMID#PMID_10804168 PMID:11136708 http://purl.org/obo/owl/PMID#PMID_11136708 humpback hunchback MPheno.ontology MP:0000068 scoliosis lateral and rotational curvature of the spine ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:11136708 http://purl.org/obo/owl/PMID#PMID_11136708 PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 MPheno.ontology MP:0000070 lordosis anteriorly convex curvature of the spine ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10804169 http://purl.org/obo/owl/PMID#PMID_10804169 saddle back MPheno.ontology abnormal cartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal cartilage cartilage dysplasia MPheno.ontology abnormal cartilage development anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal cartilage formation MPheno.ontology abnormal long bone hypertrophic chondrocyte zone anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10581033 http://purl.org/obo/owl/PMID#PMID_10581033 abnormal long bone zone of hypertrophy MPheno.ontology abnormal chondrocyte morphology any structural anomaly of nondividing cartilage cells ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:9144284 http://purl.org/obo/owl/PMID#PMID_9144284 abnormal chondrocytes MPheno.ontology decreased chondrocyte cell number fewer than normal numbers of nondividing cartilage cells ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 decreased number of chondrocytes reduced chondrocyte numbers MPheno.ontology abnormal bone marrow development anomaly in the formation of the soft, pulpy tissue filling the medullary cavities of bones ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal bone marrow formation/ structure MPheno.ontology abnormal bone marrow cell number increased or decreased number of cells that make up the core cavities of bones when compared to controls MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology absent bone marrow cell lack of cells that make up the core cavities of bones MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL absence of bone marrow cell Loss of bone marrow cell loss of bone marrow cell MPheno.ontology MP:0000342 bone marrow occupied by adipocytes anomalous appearance of fat-forming cells in the bone marrow MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology abnormal circulating cholesterol level anomaly in the amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal cholesterol level abnormal total circulating cholesterol level abnormal total plasma cholesterol level abnormal total serum cholesterol level MPheno.ontology MP:0001549 MP:0005177 abnormal circulating LDL cholesterol level any anomaly in the amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal LDL cholesterol level MPheno.ontology increased circulating LDL cholesterol level greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL elevated circulating LDL cholesterol level elevated LDL cholesterol level high LDL cholesterol level increased LDL cholesterol level MPheno.ontology decreased circulating LDL cholesterol level reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL decreased LDL cholesterol level low circulating LDL cholesterol level low LDL cholesterol level reduced circulating LDL cholesterol level MPheno.ontology abnormal circulating HDL cholesterol level any anomaly in the amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal HDL cholesterol level abnormal HDL levels MPheno.ontology MP:0001555 decreased circulating HDL cholesterol level reduced amount in the blood of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL decreased HDL cholesterol level low circulating HDL cholesterol level low HDL cholesterol level low serum HDL level reduced circulating HDL level MPheno.ontology MP:0002618 abnormal triglyceride level any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal triacylglycerol level MPheno.ontology MP:0001551 abnormal circulating glucose level any anomaly in the concentration in the blood of the major monosaccharide of the body MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal blood glucose level MPheno.ontology MP:0001557 hypoglycemia low levels of plasma glucose in the circulating blood; this generally refers to a pathological state ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL Decreased Blood Glucose Level low blood glucose levels MPheno.ontology MP:0001558 MP:0002613 abnormal mineral level any anomaly in the concentration of any inorganic substance that has importance in body functions ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology MP:0001561 hypercalcemia abnormally high concentration of calcium ions in the circulating blood ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL increased circulating calcium MPheno.ontology MP:0001563 MP:0001768 hypocalcemia subnormal concentrations of calcium ions in the circulating blood ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL decreased circulating calcium MPheno.ontology MP:0001564 MP:0001769 hypophosphatemia abnormally low concentrations of phosphates in the circulating blood ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology MP:0001567 MP:0001774 abnormal circulating serum albumin level anomaly in the blood level of the major blood protein that is important in maintaining the colloidal osmotic pressure, fatty acid transport and transporting large organic molecules MESH:D12.776.034.841 http://purl.org/obo/owl/MESH#MESH_D12.776.034.841 abnormal albumin level analbuminemia MPheno.ontology MP:0001568 abnormal circulating alkaline phosphatase level any anomaly in the concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal alkaline phosphatase activity abnormal alkaline phosphatase level abnormal AP level abnormal circulating ALP levels MPheno.ontology MP:0001571 GO:0004035 http://purl.org/obo/owl/GO#GO_0004035 abnormal circulating aspartate transaminase level any anomaly in the concentration in the blood of the enzyme which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal aspartate aminotransferase level abnormal aspartate transaminase level abnormal AST level MPheno.ontology MP:0001572 decreased hematocrit less than the average percentage of a volume of a blood sample occupied by red blood cells MESH:E01.450.375.400 http://purl.org/obo/owl/MESH#MESH_E01.450.375.400 reduced hematocrit MPheno.ontology MP:0001580 absent erythrocytes lack of mature red blood cells PMID:7830794 http://purl.org/obo/owl/PMID#PMID_7830794 absence of erythrocytes absence of RBCs absence of red blood cells MPheno.ontology absent erythroid progenitor cell lack of progenitors of the erythrocyte lineage CL:0000038 http://purl.org/obo/owl/CL#CL_0000038 PMID:7830794 http://purl.org/obo/owl/PMID#PMID_7830794 absence of erythrocyte precursors absent BFU-E absent blast forming unit erythroid absent burst forming unit erythroid absent CFU-E absent colony forming unit erythroid absent erythrocyte precursors absent erythroid stem cell MPheno.ontology abnormal leukocyte cell number any anomaly in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 http://purl.org/obo/owl/CL#CL_0000738 MESH:A11.118.637 http://purl.org/obo/owl/MESH#MESH_A11.118.637 abnormal WBC cell abnormal white blood cell count abnormal white blood cell number leukocyte count abnormalities white blood cell count abnormalities white blood cell number abnormalities MPheno.ontology MP:0001587 increased leukocyte cell number greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 http://purl.org/obo/owl/CL#CL_0000738 MESH:A11.118.637 http://purl.org/obo/owl/MESH#MESH_A11.118.637 increased leukocyte count increased WBC count increased WBC number increased white blood cell number leukocytosis MPheno.ontology increased neutrophil cell number greater than normal neutrophil numbers MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL increased neutrophil count increased neutrophil number neutrophilia MPheno.ontology increased monocyte cell number greater than normal monocyte numbers MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL increased monocyte count increased monocyte number monocytosis MPheno.ontology decreased leukocyte cell number reduction in the number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue CL:0000738 http://purl.org/obo/owl/CL#CL_0000738 MESH:A11.118.637 http://purl.org/obo/owl/MESH#MESH_A11.118.637 decreased leukocyte count decreased WBC count decreased WBC number decreased white blood cell number leukocytopenia leukopenia lymphopenia reduced leukocyte cell number reduced leukocyte count reduced WBC count reduced WBC number reduced white blood cell number MPheno.ontology decreased neutrophil cell number fewer than normal neutrophil numbers MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL decreased neutrophil count decreased neutrophil number neutropenia reduced neutrophil cell number reduced neutrophil count MPheno.ontology decreased monocyte cell number fewer than normal monocyte numbers MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL decreased monocyte count decreased monocyte number monocytopenia reduced monocyte cell number reduced monocyte count MPheno.ontology abnormal mean corpuscular volume MCV is calculated by dividing the hematocrit by the total number of RBCs and multiplying this number by ten (10). deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal MCV abnormal mean cell volume MPheno.ontology MP:0001590 abnormal thrombopoiesis abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation MESH:G04.335.151.825.798 http://purl.org/obo/owl/MESH#MESH_G04.335.151.825.798 abnormal thrombocyte development thrombocyte abnormalities MPheno.ontology MP:0000211 MP:0000227 MP:0001583 MP:0001591 MP:0001592 MP:0002448 abnormal megakaryocyte differentiation atypical production of or inability to produce of a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm CL:0000556 http://purl.org/obo/owl/CL#CL_0000556 ISBN:0721601464 http://purl.org/obo/owl/ISBN#ISBN_0721601464 abnormal megacaryocyte differentiation abnormal megalocaryocyte differentiation abnormal megalokaryocyte differentiation MPheno.ontology MP:0001593 abnormal blood pressure altered tension of the blood within the systemic arteries MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL heart/cardiovascular system: blood pressure anomalies MPheno.ontology MP:0001594 MP:0002129 MGI:2173589 http://purl.org/obo/owl/MGI#MGI_2173589 hypertension sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology MP:0001595 abnormal blood flow velocity any anomaly in the rate of flow of the blood through vessels MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology MP:0001597 decreased blood cell number fewer than the normal numbers of the various types of blood cells PMID:10673499 http://purl.org/obo/owl/PMID#PMID_10673499 reduced blood cell number reduction in hematopoietic cell types reduction in hemopoietic cell types MPheno.ontology absent pre-B cells absence of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10673499 http://purl.org/obo/owl/PMID#PMID_10673499 Absence of pre-B cell absence of pre-B cell deficiency of pre-B cells Loss of pre-B cell loss of pre-B cell MPheno.ontology MP:0000349 absent common myeloid progenitor cells lack of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages CL:0000049 http://purl.org/obo/owl/CL#CL_0000049 PMID:10673499 http://purl.org/obo/owl/PMID#PMID_10673499 absence of myeloid colony forming progenitor cells absent cfu-gemm absent CFU-S absent CMPs absent colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte absent multipotential myeloid stem cell absent myeloid stem cell absent pluripotent stem cell (bone marrow) deficiency of myeloid colony forming progenitor cells MPheno.ontology extramedullary hematopoiesis formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes MESH:G04.335.151.825.463 http://purl.org/obo/owl/MESH#MESH_G04.335.151.825.463 EMH extramedullary hemopoiesis extramedullary myelopoiesis MPheno.ontology impaired fertilization defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology myoclonus involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:C10.597.350.500 http://purl.org/obo/owl/MESH#MESH_C10.597.350.500 MPheno.ontology abnormal erythropoiesis atypical process of the formation of enucleated fetal and adult erythrocytes ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal definitive erythropoiesis abnormal erythrocytopoiesis erythropoiesis abnormalities MPheno.ontology MP:0001608 abnormal interleukin-10 physiology This term is obsolete. Instead, use the terms abnormal circulating interleukin-10 level (MP:0008590) and its children or abnormal interleukin-10 secretion (MP:0008659) and its children. functional anomaly of this factor that is a co-regulator of mast cell growth and produced by T and B cells MGI:pvb_"Pierre_Vanden_Borre http://purl.org/obo/owl/MGI#MGI_pvb_"Pierre_Vanden_Borre Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal IL-10 physiology MPheno.ontology macrocytosis condition in which erythrocytes are larger than normal in size ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL macrocythemia megalocythemia megalocytosis megaolcytosis MPheno.ontology MP:0001610 abnormal blood vessel physiology any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL blood vessel defects blood vessel physiology abnormalities MPheno.ontology abnormal vasoconstriction anomaly in the narrowing of the blood vessels by smooth muscle contraction ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:G09.330.582.400.920 http://purl.org/obo/owl/MESH#MESH_G09.330.582.400.920 abnormal vascular smooth muscle contraction MPheno.ontology MP:0001612 MP:0005593 vasculature congestion obstruction of the normal flux of blood within the blood vessel network ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL congested vasculature MPheno.ontology echinocytosis a state in which the red blood cells have multiple small projections appearing over the cell circumference resembling a small burr or a sea urchin ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:12594949 http://purl.org/obo/owl/PMID#PMID_12594949 burr erythrocyte crenation echinosis MPheno.ontology abnormal vascular development aberrant process of vascular formation ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:17509 http://purl.org/obo/owl/J#J_17509 vascular development abnormalities MPheno.ontology MP:0001620 abnormal angiogenesis aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL angiogenesis abnormalities MPheno.ontology MP:0001621 poor arterial differentiation failure of or inadequate acquisition of the characteristics and/or functions of the arteries ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology absent organized vascular network formation of vasculature, but failure to differentiate into stereotypic organized pattern PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 absence of organized vascular network MPheno.ontology failure of vascular branching failure of vasculature to form divisions (offshoots) PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 MPheno.ontology atretic vasculature absence or disorganization of vasculature ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:62571 http://purl.org/obo/owl/J#J_62571 MPheno.ontology abnormal heart morphology anomalies in the hollow, muscular organ that maintains the circulation of the blood MESH:A07.541 http://purl.org/obo/owl/MESH#MESH_A07.541 PMID:7477375 http://purl.org/obo/owl/PMID#PMID_7477375 abnormal cardiac morphology abnormal heart cardiac abnormalities cardiac defects cardiac dysplasia heart abnormalities heart defects MPheno.ontology MP:0000271 GO:0007505 http://purl.org/obo/owl/GO#GO_0007505 abnormal heart development aberrant formation or incomplete differentiation of the heart MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 abnormal cardiac development cardiac development abnormalities MPheno.ontology MP:0001624 GO:0007505 http://purl.org/obo/owl/GO#GO_0007505 abnormal anterior cardiac development abnormal cardiac development, anterior cardiac development abnormalities, anterior MPheno.ontology abnormal looping morphogenesis atypical bending of the primitive heart tube during early development J:27443 http://purl.org/obo/owl/J#J_27443 MPheno.ontology abnormal heart tube morphology malformed embryonic heart J:37888 http://purl.org/obo/owl/J#J_37888 abnormal heart tube heart tube abnormalities MPheno.ontology abnormal aorta morphology any structural anomaly of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:A07.231.114.056 http://purl.org/obo/owl/MESH#MESH_A07.231.114.056 abnormal aorta aorta abnormalities MPheno.ontology MA:0000062 http://purl.org/obo/owl/MA#MA_0000062 overriding aorta congenitally abnormal position of the aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cml_"Cathleen_M._Lutz http://purl.org/obo/owl/MGI#MGI_cml_"Cathleen_M._Lutz Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology enlarged heart increase over normal size of the heart PMID:7477375 http://purl.org/obo/owl/PMID#PMID_7477375 cardiomegaly macrocardia megacardia megalocardia MPheno.ontology heart hyperplasia overdevelopment or increased size of the heart, usually due an increased number of cells PMID:7926784 http://purl.org/obo/owl/PMID#PMID_7926784 hyperplastic heart MPheno.ontology heart right ventricle hypertrophy increased size of the right ventricle J:33629 http://purl.org/obo/owl/J#J_33629 hypertrophic right ventricle right ventricle hypertrophy right ventricular hypertrophy MPheno.ontology abnormal heart shape any structural anomaly of the form or the patterning of the heart PMID:7926784 http://purl.org/obo/owl/PMID#PMID_7926784 heart shape abnormalities MPheno.ontology abnormal myocardial fiber morphology any structural anomaly of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart PMID:7926784 http://purl.org/obo/owl/PMID#PMID_7926784 abnormal adult cardiomyocyte morphology abnormal cardiac muscle cell morphology abnormal myocardial cell abnormal myocardial fibers myocardial fibers abnormalities MPheno.ontology MP:0002994 ventricular hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the two lower chambers of the heart ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:61790 http://purl.org/obo/owl/J#J_61790 hypoplasia of ventriculum hypoplastic ventriculum MPheno.ontology thin ventricular wall decreased depth of the cardiac wall of the heart ventricles PMID:9362461 http://purl.org/obo/owl/PMID#PMID_9362461 MPheno.ontology abnormal ventricular septum morphology any structural anomaly of the wall between the two lower chambers of the heart MESH:A07.541.459 http://purl.org/obo/owl/MESH#MESH_A07.541.459 abnormal interventricular septum ventricular septal defect MPheno.ontology MP:0005484 abnormal atrial septum morphology any structural anomaly of the thin membranous structure between the two heart atria MESH:A07.541.459 http://purl.org/obo/owl/MESH#MESH_A07.541.459 atrial septal defect MPheno.ontology double outlet heart right ventricle both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:67826 http://purl.org/obo/owl/J#J_67826 double outlet right ventricle MPheno.ontology MP:0000283 abnormal cardiac valve morphology any structural anomaly of the membranous folds of the heart that prevent reflux of fluid MESH:A07.541.510 http://purl.org/obo/owl/MESH#MESH_A07.541.510 PMID:7926784 http://purl.org/obo/owl/PMID#PMID_7926784 abnormal heart valve valve abnormalities valve defects MPheno.ontology abnormal mitral valve morphology any structural anomaly of the valve between the left atrium and the left ventricle of the heart ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:A07.541.510.507 http://purl.org/obo/owl/MESH#MESH_A07.541.510.507 PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 abnormal bicuspid valve abnormal mitral valve MPheno.ontology heart valve hypoplasia underdevelopment or reduced size of the heart valves, usually due to a reduced number of cells, PMID:9362461 http://purl.org/obo/owl/PMID#PMID_9362461 hypoplastic heart valves MPheno.ontology abnormal pericardium morphology any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cml_"Cathleen_M._Lutz http://purl.org/obo/owl/MGI#MGI_cml_"Cathleen_M._Lutz Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10072433 http://purl.org/obo/owl/PMID#PMID_10072433 abnormal pericardium abnormal pericaridal sac morphology pericardial abnormalities MPheno.ontology GO:0007513 http://purl.org/obo/owl/GO#GO_0007513 enlarged pericardium extended fibroserous membrane covering the heart and beginning of the great vessels PMID:7477375 http://purl.org/obo/owl/PMID#PMID_7477375 enlarged pericardial sac MPheno.ontology distended pericardium stretched outer parietal layer of the pericardium J:25248 http://purl.org/obo/owl/J#J_25248 distended pericardial sacs MPheno.ontology absent myocardial trabeculae absence of the supporting bundles of muscular fibers lining the walls of the heart MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL absence of trabeculae absent trabeculae MPheno.ontology failure of myocardial trabecular formation failure of appearance of cardiac trabeculae MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL failure of trabecular formation MPheno.ontology poorly developed ventricular trabeculae retarded differentiation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart PMID:7477375 http://purl.org/obo/owl/PMID#PMID_7477375 MPheno.ontology absent ventricular trabeculae missing supporting bundles of muscular fibers lining the walls of the ventricles of the heart PMID:9362461 http://purl.org/obo/owl/PMID#PMID_9362461 absence of ventricular trabeculae absent columnae carneae absent fleshy beams absent Rathke bundles absent trabeculae carneae MPheno.ontology abnormal endocardial cushion morphology any structural anomaly of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal endocardial cushion endocardial cushion abnormalities MPheno.ontology GO:0007505 http://purl.org/obo/owl/GO#GO_0007505 absent endocardial cushion absence of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL absence of endocardial cushion MPheno.ontology failure of endocardial cushion closure failure of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices PMID:7477375 http://purl.org/obo/owl/PMID#PMID_7477375 MPheno.ontology thin endocardial cushion reduced thickness of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal PMID:9362461 http://purl.org/obo/owl/PMID#PMID_9362461 MPheno.ontology decreased endocardial cushion size smaller than normal mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7477377 http://purl.org/obo/owl/PMID#PMID_7477377 decreased size of endocardial cushions reduced endocardial cushion size reduced size of endocardial cushions MPheno.ontology abnormal cardiac stroke volume anomaly in the volume of blood pushed into the aorta with each beat of the heart MESH:E01.370.370.380.150.700 http://purl.org/obo/owl/MESH#MESH_E01.370.370.380.150.700 MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology MP:0001628 abnormal pulse MPheno.ontology MP:0001630 abnormal heart sounds MPheno.ontology MP:0001631 abnormal cell death any anomaly in the cessation of function at the cellular level ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal cellular death MPheno.ontology MP:0001647 schistocytosis the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:12594949 http://purl.org/obo/owl/PMID#PMID_12594949 schizocytosis MPheno.ontology hemoglobinuria the presence of hemoglobin in the urine, including certain closely related pigments that are formed from slight alteration of the hemoglobin molecule MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:12594949 http://purl.org/obo/owl/PMID#PMID_12594949 MPheno.ontology cellular necrosis pathologic death of cells, usually from irreversible damage ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology abnormal cell number any anomaly in the numbers of cells MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology increased cell number greater than expected number of cells MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology increased activated B cell number increased activated B-cell number MPheno.ontology increased bone marrow cell number increased number of cells that make up the core cavities of bones when compared to the normal state MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL bone marrow hyperplasia increased bone marrow cell number MPheno.ontology MP:0000173 increased granulocyte number greater than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL granulocytosis increased granulocyte number MPheno.ontology MP:0000719 increased mast cell number greater than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MESH:A.11.329.427 http://purl.org/obo/owl/MESH#MESH_A.11.329.427 MPheno.ontology hemosiderinuria the presence of hemosiderin in the urine; hemosiderin is an intracellular storage form of iron, found in the form of pigmented yellow to brown granules consisting of a complex of ferric hydroxides, polysaccharides, and proteins with an iron content of about 33 per cent by weight MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:12594949 http://purl.org/obo/owl/PMID#PMID_12594949 MPheno.ontology increased enterocyte cell number greater than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 http://purl.org/obo/owl/CL#CL_0000584 increased enterocyte number increased intestinal cell number MPheno.ontology decreased cell number fewer than expected number of cells MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL reduced cell number MPheno.ontology decreased activated B cell number decreased activated B lymphocyte number decreased activated B-cell number MPheno.ontology hemoglobinemia the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis MGI:anna_"Anna_V._Anagnostopoulos http://purl.org/obo/owl/MGI#MGI_anna_"Anna_V._Anagnostopoulos Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:12594949 http://purl.org/obo/owl/PMID#PMID_12594949 MPheno.ontology decreased bone marrow cell number decreased number of cells that make up the core cavities of bones when compared to the normal state MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10716451 http://purl.org/obo/owl/PMID#PMID_10716451 bone marrow hypoplasia decreased bone marrow cell number hypocellular bone marrow reduced bone marrow cell number MPheno.ontology MP:0000174 decreased granulocyte number fewer than expected number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL agranulocytosis decreased granulocyte number granulocytopenia reduced granulocyte number MPheno.ontology MP:0000723 decreased mast cell number fewer than expected number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation MESH:A.11.329.427 http://purl.org/obo/owl/MESH#MESH_A.11.329.427 reduced mast cell number MPheno.ontology decreased enterocyte cell number fewer than expected number of the epithelial cells that have an apical plasma membrane folded into microvilli to provide ample surface for the absorption of nutrients from the intestinal lumen CL:0000584 http://purl.org/obo/owl/CL#CL_0000584 decreased intestinal cell number reduced enterocyte number reduced intestinal cell number MPheno.ontology absence of cell loss of cell MPheno.ontology abnormal bile color a change in the color of the bile from the normal yellowish brown or green J:80519 http://purl.org/obo/owl/J#J_80519 MPheno.ontology altered response to myocardial infarction change in the physiological response to necrosis of the cardiac tissue, often resulting from the sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:C14.280.647.500 http://purl.org/obo/owl/MESH#MESH_C14.280.647.500 MPheno.ontology absent Cajal-Retzius cell the absence of a distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus MGI:tc_"Teresa_Chu http://purl.org/obo/owl/MGI#MGI_tc_"Teresa_Chu Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL PMID:10716451 http://purl.org/obo/owl/PMID#PMID_10716451 absence of Cajal-Retzius cell loss of Cajal-Retzius cell MPheno.ontology MP:0000793 MP:0000817 broad head a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology abnormal aerobic fitness any change in the metabolism resulting in an altered ability to do physical work; for example, alterations in running capacity MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL RGD:cur http://purl.org/obo/owl/RGD#RGD_cur MPheno.ontology abnormal cell proliferation anomaly in the ability of the a cell population to undergo expansion by cell division ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MPheno.ontology increased cell proliferation increase in the expansion rate of a cell population by cell division MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology decreased cell proliferation reduction in the expansion rate of a cell population by cell division MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL reduced cell proliferation MPheno.ontology Abnormal Cell Size MPheno.ontology Increased Cell Size MPheno.ontology Increased Purkinje Cell Size MPheno.ontology Decreased Cell Size MPheno.ontology Decreased Purkinje Cell Size MPheno.ontology abnormal cell content/ morphology structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms MESH:A11 http://purl.org/obo/owl/MESH#MESH_A11 MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal cell cell abnormalities cellular abnormalities MPheno.ontology MP:0000311 MP:0000312 abnormal mast cell morphology any structural anomaly of a cell that is found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation ISBN:068340007X http://purl.org/obo/owl/ISBN#ISBN_068340007X MESH:A.11.329.427 http://purl.org/obo/owl/MESH#MESH_A.11.329.427 MPheno.ontology absent metachromatic granules lack of intracellular storage compartments that stain a different color than that of the dye used ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology decreased mast cell protease storage reduced amounts of proteolytic enzymes stored in mast cells MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL reduced mast cell protease storage reduced storage of mast-cell proteases MPheno.ontology decreased mast cell histamine storage reduced amounts of histamine stored in mast cells MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL decreased histamine storage reduced histamine storage reduced mast cell histamine storage reduced storage of histamine MPheno.ontology Abnormal Cell Behavior MPheno.ontology abnormal vascular regression premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress MGI:smb_"Susan_M._Bello http://purl.org/obo/owl/MGI#MGI_smb_"Susan_M._Bello Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal vascular remodeling MPheno.ontology Abnormal Hematopoietic/Hemopoietic/ Hematogenic/Hemogenic/Sanguifacient Cell Behavior MPheno.ontology Impaired Proliferative Response of Hematopoietic Cells to Mitogens MPheno.ontology abnormal coat/ hair morphology any anomaly in the color, structure, growth, or texture of the hair MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal coat/ hair coat/ hair abnormalities coat/ hair anomalies MPheno.ontology head blaze the appearance of a stripe of white fur on the head MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology diluted coat color a coat color that appears lighter in intensity or paler than normal MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL dilute coat light coat color pale coat color MPheno.ontology irregular coat pigmentation uneven coloration of the hair J:65030 http://purl.org/obo/owl/J#J_65030 MPheno.ontology belly spot the appearance of a round area of white fur on the belly MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology pink fur hue hairs have a prominent pink tinge PMID:10769039 http://purl.org/obo/owl/PMID#PMID_10769039 MPheno.ontology folliculitis inflammatory reaction in hair follicles ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:8941642 http://purl.org/obo/owl/PMID#PMID_8941642 MPheno.ontology abnormal hair follicle morphology any structural anomaly of the invagination of the epidermis from which the hair shaft develops MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 abnormal hair follicle structure abnormal hair follicles hair follicle structure abnormalities hair follicles abnormalities MPheno.ontology MP:0000375 absent hair follicles missing epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 MPheno.ontology decreased hair follicle number fewer number of the epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 reduced hair follicle number MPheno.ontology small hair follicles reduced size of the invagination of the epidermis from which the hair shaft develops MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 PMID:10469309 http://purl.org/obo/owl/PMID#PMID_10469309 MPheno.ontology enlarged hair follicles increased size of the epidermal invaginations from which the hair shaft develops MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 MPheno.ontology underdeveloped hair follicles arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MESH:A10.272.497.500 http://purl.org/obo/owl/MESH#MESH_A10.272.497.500 MPheno.ontology abnormal hair follicle orientation misaligned hair follicles; hair follicles that do not orient in a typical pattern PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 MPheno.ontology distorted hair follicle pattern twisted or contorted configuration of the arrangement of hair follicles in the skin PMID:10469309 http://purl.org/obo/owl/PMID#PMID_10469309 MPheno.ontology distended hair follicles follicles that have swollen or expanded from the skin J:53379 http://purl.org/obo/owl/J#J_53379 MPheno.ontology abnormal hair follicle root sheath anomalies of the epidermal-derived layer surrounding the hair follicle; innermost of two layers MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL hair follicle root sheath abnormalities MPheno.ontology disorganized inner root sheath cells disordered enveloping layer of cells of the hair follicle; comprises the cuticle of the inner roots PMID:10469309 http://purl.org/obo/owl/PMID#PMID_10469309 MPheno.ontology absent inner root sheath missing epidermal-derived layer surrounding the hair follicle; innermost of two layers J:65047 http://purl.org/obo/owl/J#J_65047 MPheno.ontology disorganized outer root sheath cells disordered enveloping layer of cells of the hair follicle; surrounds inner root and is continuous with basal and spinous layers of the epidermis PMID:10469309 http://purl.org/obo/owl/PMID#PMID_10469309 MPheno.ontology disorganized matrix sheath cells disordered layer of matrix cells of the hair follicle PMID:10469309 http://purl.org/obo/owl/PMID#PMID_10469309 MPheno.ontology premature hair follicle generation early onset of hair follicle development PMID:9135074 http://purl.org/obo/owl/PMID#PMID_9135074 MPheno.ontology accelerated hair follicle regression quicker than average length of time for onset of catagen phase of the cyclic transformation of the hair follicle J:65034 http://purl.org/obo/owl/J#J_65034 MPheno.ontology persistent hair follicle morphogenesis continuous induction of de novo hair follicles in the epidermis J:51296 http://purl.org/obo/owl/J#J_51296 MPheno.ontology absent hair follicle melanin granules missing pigment polymers in the hair follicles PMID:7958926 http://purl.org/obo/owl/PMID#PMID_7958926 absence of melanin granules in hair follicle absent melanin granules in hair follicle MPheno.ontology abnormal hair types any structural anomaly of the different subsets of types of hairs PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 MPheno.ontology increased curvature of hairs greater bending arch of the distinct C- or S- shaped curvature of the hairs J:4606 http://purl.org/obo/owl/J#J_4606 MPheno.ontology abnormal guard hair any structural anomaly of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2_"Sundberg http://purl.org/obo/owl/ISBN#ISBN_0-8493-8372-2_"Sundberg JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities":NULL http://purl.org/obo/owl/JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"#JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"_NULL abnormal monotrich hair MPheno.ontology splitting of guard hairs intercellular splits and kinks within or along the hair shaft of the long, straight truncal hairs that contain two air cells in the medulla ISBN:0-8493-8372-2_"Sundberg http://purl.org/obo/owl/ISBN#ISBN_0-8493-8372-2_"Sundberg JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities":NULL http://purl.org/obo/owl/JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"#JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"_NULL PMID:9808631 http://purl.org/obo/owl/PMID#PMID_9808631 splitting of monotrich hair MPheno.ontology increased curvature of guard hairs greater bending arch of the guard hairs PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 increased curvature of monotrich hair MPheno.ontology abnormal awl hair any structural anomaly of truncal hairs that are straight, but are shorter than guard hairs, and contain two or more air cells in the medulla ISBN:0-8493-8372-2_"Sundberg http://purl.org/obo/owl/ISBN#ISBN_0-8493-8372-2_"Sundberg JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities":NULL http://purl.org/obo/owl/JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"#JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"_NULL MPheno.ontology increased curvature of awl hairs greater bending arch of the awl hairs PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 MPheno.ontology abnormal zigzag hairs any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla ISBN:0-8493-8372-2_"Sundberg http://purl.org/obo/owl/ISBN#ISBN_0-8493-8372-2_"Sundberg JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities":NULL http://purl.org/obo/owl/JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"#JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"_NULL MPheno.ontology increased curvature of zigzag hairs greater bending arch of the zigzag hairs PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 MPheno.ontology decreased curvature of zigzag hairs smaller bending arch of the zigzag hairs PMID:10804183 http://purl.org/obo/owl/PMID#PMID_10804183 reduced curvature of zigzag hairs MPheno.ontology abnormal auchene hairs any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla ISBN:0-8493-8372-2_"Sundberg http://purl.org/obo/owl/ISBN#ISBN_0-8493-8372-2_"Sundberg JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities":NULL http://purl.org/obo/owl/JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"#JP_(ed.)_Handbook_of_Mouse_Mutations_with_Skin_and_Hair_Abnormalities"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology increased curvature of auchene hairs greater bending arch of the auchene hairs PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 MPheno.ontology abnormal duvet hair anomalies of the fine under hair of the coat MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology absent duvet hair absence of the duvet hair J:46854 http://purl.org/obo/owl/J#J_46854 absence of duvet hair MPheno.ontology waved hair hair or fur having undulations or a sinusoidal shape PMID:9573048 http://purl.org/obo/owl/PMID#PMID_9573048 curly hair waved fur wavy hair MPheno.ontology shiny fur fur with a glossy or glistening appearance J:45065 http://purl.org/obo/owl/J#J_45065 MPheno.ontology excessive hair greater amount of body hair compared to controls MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology polyphalangy increased number of phalanges in any of the digits J:13069 http://purl.org/obo/owl/J#J_13069 MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology alopecia absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL J:30772 http://purl.org/obo/owl/J#J_30772 J:33796 http://purl.org/obo/owl/J#J_33796 absence of hair absence of hair shaft absent hair shaft baldness hair loss hairless loss of hair no hair shaft MPheno.ontology partial hair loss inability to retain some of the hairs of the coat MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology sparse hair body hair that is significantly less dense J:46854 http://purl.org/obo/owl/J#J_46854 sparse fur thin hair MPheno.ontology short hair reduced average length of the hairs J:64948 http://purl.org/obo/owl/J#J_64948 MPheno.ontology patchy hair uneven spots of hair growth on the body J:26975 http://purl.org/obo/owl/J#J_26975 patchy fur MPheno.ontology rough hair greasy, matted appearance of the fur J:31155 http://purl.org/obo/owl/J#J_31155 MPheno.ontology ruffled hair fuzzy, irregular appearance of the hair J:50844 http://purl.org/obo/owl/J#J_50844 MPheno.ontology mottled coat coat has spots, streaks, and/or blotches of a different color J:17194 http://purl.org/obo/owl/J#J_17194 mottled fur MPheno.ontology delayed hair appearance late onset of the first appearance of the fur J:17792 http://purl.org/obo/owl/J#J_17792 delayed hair growth MPheno.ontology delayed hair regrowth slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase PMID:10742104 http://purl.org/obo/owl/PMID#PMID_10742104 MPheno.ontology retarded hair growth slow growth of the hair, appears at normal time J:5476 http://purl.org/obo/owl/J#J_5476 MPheno.ontology loss of cilia inability to retain the eyelashes PMID:9420327 http://purl.org/obo/owl/PMID#PMID_9420327 loss of eyelashes MPheno.ontology ectopic hair growth positional abnormality of hair J:24350 http://purl.org/obo/owl/J#J_24350 heterotopic hair growth MPheno.ontology abnormal hair cycle aberrant timing of growth and loss of hair (coat) MGI:llw2_"Linda_Washburn http://purl.org/obo/owl/MGI#MGI_llw2_"Linda_Washburn Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology abnormal craniofacial morphology any structural anomaly of the face and/or cranium ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL craniofacial abnormalities craniofacial defects craniofacial dysplasia MPheno.ontology absent maxillary shelf missing outgrowth of the maxilla; normally fuses with palatine shelf to form secondary palate ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 absent maxillary palatal process absent palatal process of maxilla absent palatine process MPheno.ontology MP:0000112 absent palatine shelf missing outgrowth of the palatine bone; normally fuses with maxillary shelf to form secondary palate ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL PMID:7914451 http://purl.org/obo/owl/PMID#PMID_7914451 absent horizontal plate absent palatal process of palatine bone absent palatine palatal process MPheno.ontology MP:0000113 abnormal head morphology any structural anomaly of the portion of the body containing the brain and organs of sight, hearing, taste, and smell ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal head head abnormalities MPheno.ontology microcephaly an abnormally small head ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL small head MPheno.ontology megacephaly an abnormally large size of the head ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL big head enlarged head increased head size large head macrocephaly MPheno.ontology MP:0001266 shortened head reduced anterior-posterior length of the head PMID:9256350 http://purl.org/obo/owl/PMID#PMID_9256350 brachycephaly MPheno.ontology abnormal head movements any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell ISBN:0-683-40008-8_"Stedman's_Medical_Dictionary http://purl.org/obo/owl/ISBN#ISBN_0-683-40008-8_"Stedman's_Medical_Dictionary 27th_edition":NULL http://purl.org/obo/owl/27th_edition"#27th_edition"_NULL abnormal head movement MPheno.ontology MP:0001390 taut facial appearance skin of face has appearance of being drawn or pulled tightly PMID:10769039 http://purl.org/obo/owl/PMID#PMID_10769039 MPheno.ontology abnormal skull morphology any structural anomaly of the cranium MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal cranium abnormal skull cranial abnormalities skull abnormalities MPheno.ontology enlarged skull increased size of the skull MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL increased skull size MPheno.ontology domed skull increased curvature to the hemispherical shape of the skull MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL dome-shaped skull MPheno.ontology increased skull width having an increased side-to-side distance of the skull MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL wide skull MPheno.ontology longitudinally short skull decrease in the rostral-caudal distance of the skull MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology abnormal snout morphology any structural anomaly of the anterior facial part of the muzzle MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL abnormal nose morphology abnormal nose shape abnormal snout abnormal snout shape snout abnormalities snout shape abnormalities MPheno.ontology MP:0000444 short snout reduced length of the anterior facial part of the muzzle PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 short nose MPheno.ontology long snout the anterior facial part of the muzzle having a length greater than seen in controls MGI:cwg_"Carroll-Ann_W._Goldsmith http://purl.org/obo/owl/MGI#MGI_cwg_"Carroll-Ann_W._Goldsmith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL long nose MPheno.ontology flattened snout a snout flattened laterally along the whole length without the appearance of distinctive curvature MGI:csmith_"Cynthia_L._Smith http://purl.org/obo/owl/MGI#MGI_csmith_"Cynthia_L._Smith Mouse_Genome_Informatics_Curator":NULL http://purl.org/obo/owl/Mouse_Genome_Informatics_Curator"#Mouse_Genome_Informatics_Curator"_NULL MPheno.ontology pointed snout muzzle tapers to a small tip, sharper angle than wild type PMID:7958926 http://purl.org/obo/owl/PMID#PMID_7958926 MPheno.ontology broad nasal bridge wider than normal upper part of the ridge of the nose PMID:9949198 http://purl.org/obo/owl/PMID#PMID_9949198 MPheno.ontology absent snout missing anterior facial part of the muzzle PMID:8837770 http://purl.org/obo/owl/PMID#PMID_8837770 absence of snout absent nose MPheno.ontology scaly muzzle muzzle covered with shedding scales or flakes J:56641 http://purl.org/obo/owl/J#J_56641 scaly snout