Development Level

Tbio 3 | 11,445
Tchem 1 | 1,598
Tclin 1 | 613

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal behavior 1 | 298
abnormal behavioral response t... 1 | 66
abnormal embryo size 1 | 220
abnormal facial morphology 1 | 17
abnormal head shape 1 | 10
abnormal kidney morphology 1 | 65
abnormal limb morphology 1 | 13
abnormal outer ear morphology 1 | 3
cyanosis 1 | 7
decreased circulating glucose ... 1 | 126
hemorrhage 1 | 23
hyperactivity 1 | 148
increased circulating alkaline... 1 | 122
increased circulating chloride... 1 | 41
increased circulating glucose ... 1 | 24
increased circulating sodium l... 1 | 71

Disease

Birthmark 5 | 35
Brain hemorrhage 5 | 14
Cafe-au-Lait Spots 5 | 37
Cerebral Hemorrhage 5 | 42
Congenital Bilateral Cataracts 5 | 50
Congenital cataract 5 | 50
Congestive heart failure 5 | 113
Elevated heart rate 5 | 25
Elevated urinary norepinephrine 5 | 5
Heart failure 5 | 162
Hemangioma 5 | 69
Hypercalcemia 5 | 59
Hyperhidrosis disorder 5 | 81
Hypertension, episodic 5 | 5
Hypertensive Retinopathy 5 | 14
Increased sweating 5 | 81
Paraganglioma 5 | 15
Pheochromocytoma 5 | 24
Positive regitine blocking test 5 | 5
Proteinuria 5 | 144
Renal Artery Stenosis 5 | 9
Sweating 5 | 81
Tachycardia 5 | 43
ovarian cancer 5 | 8,520
Carcinoma 4 | 11,493
Phaeochromocytoma 4 | 20
Renal Cell Carcinoma 4 | 214
Von Hippel-Lindau disease 4 | 19
Abdominal Pain 3 | 98
Autosomal recessive predisposition 3 | 1,442
Cerebellar Ataxia 3 | 304
Cognitive delay 3 | 608
Dull intelligence 3 | 645
Gastrointestinal stromal tumor 3 | 62
Global developmental delay 3 | 608
Goiter 3 | 38
Intellectual disability 3 | 1,016
Intestinal Obstruction 3 | 31
Kidney cancer 3 | 2,613
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental and motor retardation 3 | 608
Mental deficiency 3 | 645
Nausea and vomiting 3 | 97
Neurofibromatosis 3 | 40
Persistent generalized lymphadenopathy 3 | 15
Poor school performance 3 | 645
Thyroid cancer 3 | 36
Tinnitus 3 | 19
Weight decreased 3 | 103
astrocytic glioma 3 | 2,597
breast carcinoma 3 | 1,638
Adrenal gland cancer 2 | 12
Adrenal medulla cancer 2 | 2
Adult onset 2 | 82
Big calvaria 2 | 147
Carotid Body Paraganglioma 2 | 4
Chondroma 2 | 15
Congenital deafness 2 | 185
Congenital pes cavus 2 | 88
Constipation 2 | 181
Cowden disease 2 | 18
Cranial nerve palsies 2 | 11
Deafness 2 | 198
Deglutition Disorders 2 | 132
Dyschezia 2 | 135
Fatigue 2 | 182
Fissured tongue 2 | 25
Gastrointestinal Hemorrhage 2 | 52
Gastrointestinal Neoplasms 2 | 7
Gastrointestinal Stromal Tumors 2 | 48
Glomus Jugulare Tumor 2 | 4
Hamartoma Syndrome, Multiple 2 | 10
Hearing Loss, Partial 2 | 185
Hemangioma, Cavernous 2 | 20
Impaired cognition 2 | 96
Increased head circumference 2 | 147
Increased size of cranium 2 | 147
Increased size of skull 2 | 147
Isolated cases 2 | 72
Large intestine cancer 2 | 126
Lipoma 2 | 32
Melanocytic nevus 2 | 43
Meningioma 2 | 41
Mental impairment 2 | 95
Mitochondrial complex II deficiency 2 | 5
Mucosal telangiectasiae 2 | 14
Multiple, subcutaneous nodules 2 | 53
Noncancerous mole 2 | 28
Palmoplantar keratosis 2 | 74
Palpitations 2 | 18
Papillary thyroid carcinoma 2 | 43
Papilloma 2 | 44
Papule 2 | 43
Sebaceous adenoma 2 | 26
Subcutaneous nodule 2 | 53
Thyroid Neoplasm 2 | 37
Visual Impairment 2 | 174
extra-adrenal pheochromocytoma 2 | 7
hearing impairment 2 | 199

Tissue

Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Enzyme 3 | 4,145
Kinase 1 | 634
Non-IDG 1 | 12,091

OMIM Phenotype

Pheochromocytoma 5 | 5
Abacavir hypersensitivity, sus... 35 | 35
Phenotype: {Spondyloarthropath... 35 | 35
Stevens-Johnson syndrome, susc... 35 | 35
Synovitis, chronic, susceptibi... 35 | 35
Toxic epidermal necrolysis, su... 35 | 35
Phenotype: {Hypersensitivity s... 21 | 21
HIV-1 viremia, susceptibility ... 14 | 14
Phenotype: {Psoriasis suscepti... 14 | 14
Multiple sclerosis, susceptibi... 13 | 13
Phenotype: {Sarcoidosis, susce... 13 | 13
Colorectal cancer, somatic 8 | 8
Gastric cancer, somatic 6 | 6
Diabetes mellitus, noninsulin-... 5 | 5
ACTH-independent macronodular ... 4 | 4
Alzheimer disease, susceptibil... 4 | 4
Malaria, resistance to 4 | 4
McCune-Albright syndrome, soma... 4 | 4
Mycobacterium tuberculosis, su... 4 | 4
Osseous heteroplasia, progress... 4 | 4
Phenotype: Colorectal cancer, ... 4 | 4
Phenotype: Pseudohypoparathyro... 4 | 4
Phenotype: [Blood group 4 | 4
Phenotype: {Myocardial infarct... 4 | 4
Phenotype: {Schizophrenia, sus... 4 | 4
Pituitary adenoma 3, multiple ... 4 | 4
Pseudohypoparathyroidism Ib 4 | 4
Pseudohypoparathyroidism Ic 4 | 4
Pseudopseudohypoparathyroidism 4 | 4
Renal tubular dysgenesis 4 | 4
Tetralogy of Fallot 4 | 4
Afibrinogenemia, congenital 3 | 3
Aplastic anemia 3 | 3
Bladder cancer, somatic 3 | 3
COACH syndrome 3 | 3
Central hypoventilation syndro... 3 | 3
Dejerine-Sottas disease 3 | 3
Diabetes mellitus, permanent n... 3 | 3
LADD syndrome 3 | 3
Leukemia, acute myeloid 3 | 3
Lung cancer, susceptibility to 3 | 3
Mismatch repair cancer syndrom... 3 | 3
Multiple pterygium syndrome, l... 3 | 3
Myocardial infarction, suscept... 3 | 3
Neuropathy, distal hereditary ... 3 | 3
Omenn syndrome 3 | 3
Paraganglioma and gastric stro... 3 | 3
Parkinson disease, susceptibil... 3 | 3
Phenotype: Anterior segment dy... 3 | 3
Phenotype: Bethlem myopathy 1 3 | 3
Phenotype: Dysfibrinogenemia, ... 3 | 3
Phenotype: Epilepsy, progressi... 3 | 3
Phenotype: Leigh syndrome due ... 3 | 3
Phenotype: Orthostatic intoler... 3 | 3
Phenotype: {Breast cancer, sus... 3 | 3
Prostate cancer, susceptibilit... 3 | 3
Retinitis punctata albescens 3 | 3
Roussy-Levy syndrome 3 | 3
Schimmelpenning-Feuerstein-Mim... 3 | 3
Schizencephaly 3 | 3
Ullrich congenital muscular dy... 3 | 3
Arthrogryposis, distal, type 2... 2 | 2
Asthma, susceptibility to 2 | 2
Brachydactyly, type A2 2 | 2
Cerebrooculofacioskeletal synd... 2 | 2
De Sanctis-Cacchione syndrome 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Hypercholesterolemia, familial... 2 | 2
Hypofibrinogenemia, congenital 2 | 2
Ichthyosis, cyclic, with epide... 2 | 2
Jackson-Weiss syndrome 2 | 2
Leukemia, acute lymphoblastic,... 2 | 2
Leukemia, acute myeloid, somat... 2 | 2
Macular degeneration, age-rela... 2 | 2
Melanoma, cutaneous malignant,... 2 | 2
Microvascular complications of... 2 | 2
Ovarian cancer, somatic 2 | 2
Phenotype: Cockayne syndrome, ... 2 | 2
Phenotype: Epidermodysplasia v... 2 | 2
Phenotype: Epidermolysis bullo... 2 | 2
Phenotype: Epidermolytic hyper... 2 | 2
Phenotype: Hemochromatosis 2 | 2
Phenotype: Lacticacidemia due ... 2 | 2
Phenotype: Meesmann corneal dy... 2 | 2
Phenotype: Obesity, severe 2 | 2
Phenotype: Paroxysmal nonkines... 2 | 2
Phenotype: T-cell immunodefici... 2 | 2
Phenotype: Vitreoretinopathy, ... 2 | 2
Phenotype: {Alcohol dependence... 2 | 2
Phenotype: {Diabetes mellitus,... 2 | 2
Phenotype: {Nephrolithiasis, u... 2 | 2
Pick disease 2 | 2
Porphyria cutanea tarda, susce... 2 | 2
Porphyria variegata, susceptib... 2 | 2
Premature ovarian failure 11 2 | 2
Restrictive dermopathy, lethal 2 | 2
UV-sensitive syndrome 1 2 | 2
[Transferrin serum level QTL2] 2 | 2

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