Human (266 sources):
Abdominal wall muscle weakness,
Abnormal cardiovascular system morphology,
Abnormal cerebellum morphology,
Abnormal dental enamel morphology,
Abnormal form of the vertebral bodies,
Abnormal large intestine morphology,
Abnormal lung lobation,
Abnormal penis morphology,
Abnormal pupil morphology,
Abnormal subcutaneous fat tissue distribution,
Abnormality of finger,
Abnormality of retinal pigmentation,
Abnormality of skin pigmentation,
Abnormality of the kidney,
Abnormality of the nail,
Abnormality of the neck,
Abnormality of the optic nerve,
Abnormality of the parathyroid gland,
Abnormality of the thyroid gland,
Abnormality of the uterus,
Abnormality of the vasculature,
Abnormality of the wrist,
Abnormally prominent line of Schwalbe,
Acanthosis nigricans,
Acrokeratosis,
Adenoma sebaceum,
Amblyopia,
Angina pectoris,
Angioid streaks of the fundus,
Angiokeratoma,
Anteverted nares,
Aortic aneurysm,
Arterial thrombosis,
Arteriovenous malformation,
Asymmetric growth,
Asymmetry of the thorax,
Ataxia,
Autism,
Biparietal narrowing,
Birth length greater than 97th percentile,
Bone cyst,
Brachydactyly,
Breast carcinoma,
Broad forehead,
Broad thumb,
Bronchogenic cyst,
Buphthalmos,
Cachexia,
Cafe-au-lait spot,
Calvarial hyperostosis,
Capillary hemangioma,
Carcinoma,
Carious teeth,
Cataract,
Cavernous hemangioma,
Cellular immunodeficiency,
Central heterochromia,
Chorioretinal coloboma,
Clinodactyly of the 5th finger,
Cognitive impairment,
Colonic diverticula,
Colorectal polyposis,
Communicating hydrocephalus,
Congestive heart failure,
Conjunctival hamartoma,
Cranial nerve paralysis,
Craniosynostosis,
Cutis marmorata,
Decreased circulating antibody level,
Decreased muscle mass,
Deep venous thrombosis,
Delayed gross motor development,
Delayed skeletal maturation,
Delayed speech and language development,
Depigmentation/hyperpigmentation of skin,
Depressed nasal bridge,
Diabetes insipidus,
Disproportionate tall stature,
Dolichocephaly,
Downslanted palpebral fissures,
Dysplastic gangliocytoma of the cerebellum,
Endometrial carcinoma,
Enlarged cerebellum,
Enlarged polycystic ovaries,
Epidermal acanthosis,
Epidermal nevus,
Excessive wrinkled skin,
Exostoses,
Facial asymmetry,
Facial hyperostosis,
Failure to thrive,
Fibroadenoma of the breast,
Fibroma,
Finger syndactyly,
Follicular thyroid carcinoma,
Frontal bossing,
Furrowed tongue,
Generalized hirsutism,
Generalized hyperkeratosis,
Generalized hyperpigmentation,
Generalized hypotonia,
Genu recurvatum,
Glaucoma,
Global developmental delay,
Goiter,
Gray matter heterotopia,
Gynecomastia,
Hallux valgus,
Hamartoma,
Hamartomatous polyposis,
Hand polydactyly,
Hashimoto thyroiditis,
Headache,
Hearing impairment,
Hemangioma,
Hematochezia,
Hemihypertrophy,
Hemimegalencephaly,
Hemiplegia/hemiparesis,
Hepatomegaly,
Heterochromia iridis,
High palate,
Hip dislocation,
Hydrocele testis,
Hydrocephalus,
Hyperkeratosis,
Hyperostosis,
Hypertelorism,
Hyperthyroidism,
Hypertrophy of skin of soles,
Hypoglycemia,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Hypothyroidism,
Hypotonia,
Increased intracranial pressure,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intention tremor,
Intestinal polyposis,
Intracranial hemorrhage,
Intussusception,
Irregular hyperpigmentation,
Joint hypermobility,
Joint stiffness,
Kyphoscoliosis,
Kyphosis,
Limbal dermoid,
Lipoma,
Long face,
Long penis,
Long philtrum,
Low-set ears,
Lower limb asymmetry,
Lymphangioma,
Lymphedema,
Lymphoma,
Lymphopenia,
Macrocephaly,
Macrodactyly,
Macroglossia,
Macroorchidism,
Macrotia,
Macule,
Mandibular hyperostosis,
Mandibular prognathia,
Melanocytic nevus,
Melanoma,
Meningioma,
Metatarsus valgus,
Micrognathia,
Mucosal telangiectasiae,
Multiple cafe-au-lait spots,
Multiple lipomas,
Muscle weakness,
Myofibrillar myopathy,
Myopathy,
Myopia,
Narrow internal auditory canal,
Narrow mouth,
Narrow palate,
Nausea and vomiting,
Neoplasm,
Neoplasm of the adrenal cortex,
Neoplasm of the breast,
Neoplasm of the central nervous system,
Neoplasm of the lung,
Neoplasm of the skin,
Neoplasm of the thymus,
Neoplasm of the thyroid gland,
Neurological speech impairment,
Nevus,
Obesity,
Open bite,
Open mouth,
Ovarian carcinoma,
Ovarian cyst,
Ovarian neoplasm,
Palmoplantar hyperkeratosis,
Palmoplantar keratoderma,
Papilloma,
Papule,
Pectus excavatum,
Polycystic ovaries,
Polymicrogyria,
Postnatal macrocephaly,
Progressive macrocephaly,
Proptosis,
Prostate cancer,
Pseudopapilledema,
Ptosis,
Pulmonary embolism,
Recurrent fractures,
Recurrent infections,
Reduced bone mineral density,
Renal cell carcinoma,
Renal cyst,
Retinal detachment,
Retinal hamartoma,
Retinal nonattachment,
Round face,
Scoliosis,
Seizure,
Shagreen patch,
Short nose,
Short stature,
Sirenomelia,
Skeletal dysplasia,
Skeletal muscle atrophy,
Skin tags,
Spinal canal stenosis,
Spinal cord compression,
Splenomegaly,
Strabismus,
Subcutaneous hemorrhage,
Subcutaneous lipoma,
Subcutaneous nodule,
Sudden cardiac death,
Supernumerary nipple,
Talipes equinovarus,
Tall stature,
Telangiectasia,
Testicular neoplasm,
Thick corpus callosum,
Thick nasal alae,
Thickened skin,
Thin bony cortex,
Thrombophlebitis,
Thymus hyperplasia,
Thyroid adenoma,
Thyroid carcinoma,
Thyroiditis,
Tooth agenesis,
Transitional cell carcinoma of the bladder,
Trichilemmoma,
Upper limb asymmetry,
Uterine neoplasm,
Varicocele,
Vascular skin abnormality,
Venous insufficiency,
Venous malformation,
Visceral angiomatosis,
Wide nose,
obsolete Abnormality of the metacarpal bones,
obsolete Joint hyperflexibility
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Mouse (403 sources):
Mallory bodies,
Purkinje cell degeneration,
abnormal B cell negative selection,
abnormal Bergmann glial cell differentiation,
abnormal Bergmann glial cell morphology,
abnormal CD8-positive, alpha-beta T cell physiology,
abnormal CNS synaptic transmission,
abnormal Paneth cell morphology,
abnormal Purkinje cell dendrite morphology,
abnormal Purkinje cell morphology,
abnormal Schwann cell morphology,
abnormal allantois morphology,
abnormal alveolar macrophage morphology,
abnormal alveolocapillary membrane morphology,
abnormal astrocyte physiology,
abnormal behavioral response to xenobiotic,
abnormal blood cell morphology/development,
abnormal bone marrow cavity morphology,
abnormal brain development,
abnormal brain vasculature morphology,
abnormal brain white matter morphology,
abnormal branching of the mammary ductal tree,
abnormal brown adipose tissue morphology,
abnormal brown adipose tissue physiology,
abnormal centroacinar cell of Langerhans morphology,
abnormal cerebellar Purkinje cell layer,
abnormal cerebellar foliation,
abnormal cerebellar granule cell morphology,
abnormal cerebellar granule layer morphology,
abnormal cerebellar molecular layer,
abnormal cerebellum development,
abnormal cerebellum external granule cell layer morphology,
abnormal cerebellum vermis morphology,
abnormal cerebral cortex pyramidal cell morphology,
abnormal cerebral hemisphere morphology,
abnormal chondrocyte morphology,
abnormal class switch recombination,
abnormal corpus luteum morphology,
abnormal cortical ventricular zone morphology,
abnormal cytokine level,
abnormal definitive hematopoiesis,
abnormal dendrite morphology,
abnormal dendritic spine morphology,
abnormal dentate gyrus morphology,
abnormal developmental patterning,
abnormal digestion,
abnormal dopaminergic neuron morphology,
abnormal duodenum morphology,
abnormal embryo development,
abnormal embryonic tissue morphology,
abnormal endometrium morphology,
abnormal enteric neuron morphology,
abnormal epididymis epithelium morphology,
abnormal epiphyseal plate morphology,
abnormal estrous cycle,
abnormal excitatory postsynaptic currents,
abnormal excitatory postsynaptic potential,
abnormal exocrine pancreas morphology,
abnormal fatty acids level,
abnormal gastrulation,
abnormal glomerular capillary morphology,
abnormal hematopoietic stem cell physiology,
abnormal hepatocyte morphology,
abnormal hepatocyte physiology,
abnormal hippocampal mossy fiber morphology,
abnormal hippocampus CA1 region morphology,
abnormal hippocampus granule cell morphology,
abnormal hippocampus layer morphology,
abnormal hippocampus pyramidal cell layer,
abnormal hippocampus pyramidal cell morphology,
abnormal innervation,
abnormal intestinal enteroendocrine cell morphology,
abnormal intestinal goblet cell morphology,
abnormal intestinal mucosa morphology,
abnormal involution of the mammary gland,
abnormal jejunum morphology,
abnormal kidney collecting duct morphology,
abnormal liver sinusoid morphology,
abnormal liver size,
abnormal long bone hypertrophic chondrocyte zone,
abnormal lung development,
abnormal lung epithelium morphology,
abnormal lung saccule morphology,
abnormal lung vasculature morphology,
abnormal lung-associated mesenchyme development,
abnormal lymph node B cell domain morphology,
abnormal macrophage chemotaxis,
abnormal mammary gland epithelium morphology,
abnormal mammary gland growth during pregnancy,
abnormal mammary gland lobule morphology,
abnormal maternal decidual layer morphology,
abnormal maternal nurturing,
abnormal metastatic potential,
abnormal microglial cell physiology,
abnormal miniature excitatory postsynaptic currents,
abnormal muscle fiber morphology,
abnormal muscle regeneration,
abnormal myelin sheath morphology,
abnormal myometrium morphology,
abnormal nest building behavior,
abnormal neuron differentiation,
abnormal neuronal precursor proliferation,
abnormal oocyte morphology,
abnormal ovarian follicle morphology,
abnormal ovarian folliculogenesis,
abnormal ovulation,
abnormal pancreatic acinar cell morphology,
abnormal pancreatic acinus morphology,
abnormal pancreatic beta cell morphology,
abnormal pericardium morphology,
abnormal placenta labyrinth morphology,
abnormal placenta morphology,
abnormal placenta vasculature,
abnormal plasma cell morphology,
abnormal platelet activation,
abnormal postnatal subventricular zone morphology,
abnormal pregnancy,
abnormal primordial ovarian follicle morphology,
abnormal prostate gland epithelium morphology,
abnormal prostate gland morphology,
abnormal prostate gland physiology,
abnormal pulmonary alveolus epithelial cell morphology,
abnormal renal glomerulus morphology,
abnormal renal/urinary system morphology,
abnormal response to CNS ischemic injury,
abnormal response to cardiac infarction,
abnormal response to injury,
abnormal response to novel odor,
abnormal rostral-caudal axis patterning,
abnormal sciatic nerve morphology,
abnormal seminal vesicle morphology,
abnormal seminiferous tubule morphology,
abnormal sexual interaction,
abnormal small intestinal crypt cell proliferation,
abnormal small intestine crypts of Lieberkuhn morphology,
abnormal social investigation,
abnormal somite development,
abnormal spike wave discharge,
abnormal substantia nigra pars compacta morphology,
abnormal substantia nigra pars reticulata morphology,
abnormal synapse morphology,
abnormal synaptic depression,
abnormal synaptic vesicle number,
abnormal thyroid follicle morphology,
abnormal thyroid follicular cell morphology,
abnormal trophoblast layer morphology,
abnormal tumor incidence,
abnormal tumor susceptibility,
abnormal type I pneumocyte morphology,
abnormal type II pneumocyte morphology,
abnormal urinary bladder urothelium morphology,
abnormal urination,
abnormal urothelium morphology,
abnormal uterus morphology,
abnormal uterus physiology,
abnormal vascular development,
abnormal vibrissa follicle morphology,
absent cerebellar foliation,
acanthosis,
adipose tissue phenotype,
behavior/neurological phenotype,
branched small intestinal villi,
bronchial epithelial hyperplasia,
bronchiolar epithelial hyperplasia,
cardia bifida,
cardiac hypertrophy,
colon polyps,
decreased Purkinje cell number,
decreased aggression towards male mice,
decreased alveolar lamellar body number,
decreased bleeding time,
decreased blood oxygen capacity,
decreased body fat mass,
decreased body size,
decreased bone marrow cell number,
decreased brown fat cell lipid droplet size,
decreased cardiac muscle contractility,
decreased cell proliferation,
decreased cellular sensitivity to oxidative stress,
decreased circulating free fatty acids level,
decreased circulating glucose level,
decreased circulating insulin-like growth factor I level,
decreased embryo size,
decreased epididymal fat pad weight,
decreased fasting circulating glucose level,
decreased granulosa cell apoptosis,
decreased hippocampus pyramidal cell number,
decreased incidence of tumors by chemical induction,
decreased interleukin-2 secretion,
decreased litter size,
decreased locomotor activity,
decreased myocardial infarct size,
decreased prepulse inhibition,
decreased spleen germinal center number,
decreased surfactant secretion,
decreased survivor rate,
decreased susceptibility to bacterial infection,
decreased susceptibility to bacterial infection induced morbidity/mortality,
decreased susceptibility to hepatic steatosis,
decreased susceptibility to injury,
decreased thyroid-stimulating hormone level,
decreased thyroxine level,
decreased tumor incidence,
decreased uterine NK cell number,
decreased uterus weight,
decreased white fat cell size,
digestive/alimentary phenotype,
disorganized embryonic tissue,
distended cecum,
ectopic Bergmann glia cells,
ectopic Purkinje cell,
ectopic cartilage,
ectopic cerebellar granule cells,
ectopic neuron,
ectopic ureteric bud,
embryonic growth arrest,
embryonic growth retardation,
embryonic lethality,
embryonic lethality between implantation and somite formation, complete penetrance,
embryonic lethality during organogenesis, complete penetrance,
embryonic lethality during organogenesis, incomplete penetrance,
embryonic lethality, complete penetrance,
endocrine/exocrine gland phenotype,
endometrium fibrosis,
enhanced coordination,
enlarged Peyer's patches,
enlarged allantois,
enlarged hair follicles,
enlarged lymph nodes,
enlarged myocardial fiber,
enlarged prostate gland,
enlarged prostate gland anterior lobe,
enlarged thymus,
epidermal hyperplasia,
extended life span,
eyelids open at birth,
failure of chorioallantoic fusion,
failure of initiation of embryo turning,
flaky skin,
hair follicle outer root sheath hyperplasia,
hindlimb paralysis,
hippocampal neuron degeneration,
homeostasis/metabolism phenotype,
hunched posture,
hypermyelination,
hyperpigmentation,
hypoxia,
immune system phenotype,
impaired balance,
impaired branching involved in ureteric bud morphogenesis,
impaired lipolysis,
impaired luteal cell differentiation,
impaired neutrophil recruitment,
impaired spatial learning,
improved glucose tolerance,
incomplete embryo turning,
increased B cell apoptosis,
increased B cell proliferation,
increased B-1 B cell number,
increased IgG1 level,
increased T cell acute lymphoblastic leukemia incidence,
increased T cell derived lymphoma incidence,
increased T follicular helper cell number,
increased acute lymphoblastic leukemia incidence,
increased adipocyte glucose uptake,
increased adrenal gland tumor incidence,
increased anxiety-related response,
increased astrocyte number,
increased basal metabolism,
increased body length,
increased brain size,
increased brain weight,
increased bronchioalveolar stem cell number,
increased cell proliferation,
increased cholangiocarcinoma incidence,
increased circulating alanine transaminase level,
increased circulating alkaline phosphatase level,
increased circulating aspartate transaminase level,
increased club cell number,
increased corpora lutea number,
increased dentate gyrus size,
increased dopamine level,
increased energy expenditure,
increased fibroadenoma incidence,
increased follicle stimulating hormone level,
increased gastrointestinal tumor incidence,
increased germinal center B cell number,
increased granulocyte number,
increased granulosa cell proliferation,
increased granulosa cell tumor incidence,
increased hamartoma incidence,
increased hemangioma incidence,
increased hepatocellular carcinoma incidence,
increased hepatocyte apoptosis,
increased hepatocyte number,
increased hepatocyte proliferation,
increased incidence of tumors by chemical induction,
increased incidence of tumors by ionizing radiation induction,
increased insulin secretion,
increased insulin sensitivity,
increased litter size,
increased liver adenoma incidence,
increased liver cholesterol level,
increased liver triglyceride level,
increased liver tumor incidence,
increased liver weight,
increased lung endothelial cell proliferation,
increased luteinizing hormone level,
increased lymphoma incidence,
increased macrophage cell number,
increased malignant tumor incidence,
increased mammary adenoacanthoma incidence,
increased mammary adenocarcinoma incidence,
increased mammary gland tumor incidence,
increased mammary gland tumor incidence in breeding females,
increased marginal zone B cell number,
increased mesenchymal cell proliferation involved in lung development,
increased metastatic potential,
increased myoepithelioma incidence,
increased neuronal precursor cell number,
increased neutrophil cell number,
increased oligodendrocyte number,
increased pancreatic acinar cell number,
increased pancreatic beta cell mass,
increased pancreatic beta cell number,
increased pancreatic beta cell proliferation,
increased pancreatic ductal adenocarcinoma incidence,
increased pancreatic intraepithelial neoplasia incidence,
increased pancreatic islet number,
increased papilloma incidence,
increased platelet aggregation,
increased prostate gland adenocarcinoma incidence,
increased prostate gland tumor incidence,
increased prostate gland weight,
increased prostate intraepithelial neoplasia incidence,
increased renal carcinoma incidence,
increased saturated fatty acids level,
increased skin hamartoma incidence,
increased skin papilloma incidence,
increased skin tumor incidence,
increased solitary pulmonary neuroendocrine cell number,
increased spindle cell carcinoma incidence,
increased spleen weight,
increased startle reflex,
increased stomach tumor incidence,
increased susceptibility to bacterial infection induced morbidity/mortality,
increased thigmotaxis,
increased thyroid adenoma incidence,
increased thyroid carcinoma incidence,
increased thyroid tumor incidence,
increased thyroid-stimulating hormone level,
increased thyroxine level,
increased tumor incidence,
increased urethra carcinoma incidence,
increased urinary bladder carcinoma incidence,
increased urinary bladder transitional cell carcinoma incidence,
increased uterus carcinoma incidence,
increased uterus weight,
kinked neural tube,
lethality at weaning, complete penetrance,
lethality throughout fetal growth and development, incomplete penetrance,
long tail,
lymphoid hyperplasia,
macrovesicular hepatic steatosis,
mammary gland duct hyperplasia,
mammary gland hyperplasia,
megacolon,
microvesicular hepatic steatosis,
neonatal lethality, complete penetrance,
neonatal lethality, incomplete penetrance,
neuron hypertrophy,
no abnormal phenotype detected,
open neural tube,
oxidative stress,
pale liver,
pancreatic islet hyperplasia,
pigmentation phenotype,
postnatal lethality, complete penetrance,
postnatal lethality, incomplete penetrance,
premature death,
premature ovarian failure,
prenatal lethality, incomplete penetrance,
preweaning lethality, complete penetrance,
prostate gland epithelial hyperplasia,
pulmonary hyperplasia,
reduced female fertility,
reduced fertility,
reduced sensorimotor gating,
renal/urinary system phenotype,
reproductive system phenotype,
respiratory system phenotype,
ruffled hair,
skin lesions,
slow postnatal weight gain,
small lung saccule,
spleen hyperplasia,
sporadic seizures,
thick epidermis suprabasal layer,
thick skin,
thin cerebellar granule layer,
tomacula,
uterus hyperplasia,
wavy neural tube
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