CTD Gene-Disease Associations Dataset

Description disease-gene interactions curated from literature
Measurement association by literature curation
Association gene-disease associations by manual literature curation
Category disease or phenotype associations
Resource Comparative Toxicogenomics Database
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  1. 17252 genes
  2. 5218 diseases
  3. 888471 gene-disease associations

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disease Gene Sets

5218 sets of genes/proteins associated with diseases from the curated CTD Gene-Disease Associations dataset.

Gene Set Description
Spastic paraplegia 24
Leukoencephalopathy With Metaphyseal Chondrodysplasia
Enhanced S-Cone Syndrome Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Lupus Erythematosus, Systemic A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Scrapie
Spastic paraplegia 20, autosomal recessive
Maturity-Onset Diabetes of the Young, Type 7
Azotemia An increased concentration of nitrogen compounds in the blood.
Lymphedema distichiasis syndrome
Hypophosphatemic Rickets And Hyperparathyroidism
Sveinsson Chorioretinal Atrophy Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
PHOTOPAROXYSMAL RESPONSE 1
Congenital Hyperinsulinism
Jaundice Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Focal Dermal Hypoplasia OMIM mapping confirmed by DO. [SN].
Muir-Torre Syndrome OMIM mapping confirmed by DO. [SN].
Macular Degeneration, Age-Related, 11
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Liver Diseases, Parasitic
Dent Disease 2 A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
Mixed Tumor, Mullerian
Myopia 14
PSEUDOHYPOPARATHYROIDISM, TYPE IA
Sinonasal undifferentiated carcinoma
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Mohr-Tranebjaerg syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
Stereotypic Movement Disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Drug Overdose
MASS syndrome
Spermatogenic Failure 7
Ragweed Sensitivity
Pick Disease of the Brain
Cutis Laxa A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.
Hearing Loss, Sudden
Miyoshi Muscular Dystrophy 2
Miyoshi Muscular Dystrophy 3
Brugada Syndrome 7
Prostate Cancer, Hereditary, 15
LIPOMATOSIS, MULTIPLE
Dyssegmental dysplasia
Dyspepsia
Kenny Caffey syndrome
THROMBOCYTOPENIA 2
Achondrogenesis type 2 Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Frontometaphyseal dysplasia Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss.
DEVELOPMENTAL DYSPLASIA OF THE HIP 1
Hypoxia, Brain
Carotid Stenosis
Aortic Aneurysm, Familial Abdominal 2
MYD88 Deficiency Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
Fructosuria
Cataract congenital Volkmann type
Riddle Syndrome
Prostate Cancer, Hereditary, 9
Chills
Anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Prostate Cancer, Hereditary, 8
Inflammatory Bowel Disease 10
Common Variable Immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13
Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15
Linitis Plastica
Neuralgia
Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19
Epilepsy, Generalized
Cyclic neutropenia
Aneurysm, Ruptured
Tobacco Use Disorder
Siderius X-linked mental retardation syndrome
Brachydactyly type A2
GNATHODIAPHYSEAL DYSPLASIA
Fibromatosis, Gingival, 4
Heart Septal Defects, Ventricular
Hereditary renal agenesis
Dextrocardia
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Lymphohistiocytosis, Hemophagocytic
Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 12
Agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
AIDS-Related Opportunistic Infections
Anemia, Iron-Deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Stomach Diseases
Neoplasms, Second Primary
Huntington Disease-Like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Dyskeratosis, Hereditary Benign Intraepithelial
Congenital Hypothyroidism A hypothyroidism that is present at birth.
Diabetic Ketoacidosis OMIM mapping confirmed by DO. [SN].
Platelet Glycoprotein IV Deficiency
Parkinson disease 9
Chondrosarcoma, Mesenchymal
Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
TRICHODENTOOSSEOUS SYNDROME
Oguchi disease Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.
Heart Block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
Fibular hypoplasia and complex brachydactyly An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
Hyperparathyroidism 1
Synovitis granulomatous with uveitis and cranial neuropathies
Hyperparathyroidism 3
Brugada Syndrome 8
Char syndrome
Hyperparathyroidism, Neonatal Severe Primary
Deafness, Autosomal Recessive 1b
Multiple Endocrine Neoplasia Type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
Deafness, Autosomal Recessive 32
PHOTOPAROXYSMAL RESPONSE 2
Biliary Cirrhosis, Primary, 2
Meningitis Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
Vasculitis A vascular disease that is characterized by inflammation of the blood vessels.
Mitochondrial Phosphate Carrier Deficiency
Child Development Disorders, Pervasive
Pyloric Atresia
Gaucher Disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Familial myelofibrosis
Schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
Macular Degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
Leukocyte Adhesion Deficiency, Type III Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
Neuromyelitis Optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord.
Pulmonary Embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
Shwachman syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Hypertension, Pulmonary
Macular Degeneration, Age-Related, 10
Deafness, Autosomal Recessive 1A
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
Nephronophthisis, familial juvenile
PULMONARY FUNCTION
Atypical Hemolytic Uremic Syndrome
Glomerulopathy with fibronectin deposits Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
Sexual Infantilism
Corneal dystrophy, gelatinous drop-like
Ocular Albinism type 1 X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Carotid Artery Diseases
Deafness, Autosomal Recessive 14
MAST Syndrome A hereditary spastic paraplegia associated with dementia.
Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 17
Quadriplegia
Tay-Sachs Disease, AB Variant OMIM mapping confirmed by DO. [SN].
Acute Coronary Syndrome A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.
Osteogenesis imperfecta, type 2A
Congenital bilateral aplasia of vas deferens
Microphthalmia, syndromic 2
Opioid-Related Disorders
Prostate Cancer, Hereditary, 14
Intestinal Neoplasms
Heinz Body Anemias
Sjogren-Larsson Syndrome OMIM mapping confirmed by DO. [LS].
Eosinophilia, Familial
Amyotrophic Lateral Sclerosis 5 A type of ALS with juvenile onset with loci associated with the disease located_in chromosome 15.
Spastic Paraplegia 32, Autosomal Recessive
Hypertension, Portal
Water-Electrolyte Imbalance
Ectodermal Dysplasia 3, Anhidrotic
Bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
MEHMO syndrome
Neuromuscular Diseases
Blood Loss, Surgical
Naxos disease
Myocardial Stunning
Anemia, Aplastic
Acrocapitofemoral Dysplasia OMIM mapping confirmed by DO. [SN].
Myoclonic Epilepsies, Progressive
Tremor hereditary essential, 1
Prostate Cancer, Hereditary, 11
Eosinophilia
Prostate Cancer, Hereditary, 13
Prostate Cancer, Hereditary, 12
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Dermoids of cornea
Glaucoma-Related Pigment Dispersion Syndrome
Bile Duct Neoplasms
Congenital Abnormalities
Thrombophilia OMIM mapping confirmed by DO. [LS].
Amelogenesis Imperfecta, Type III
Retinitis Pigmentosa 37
Hyperlipidemia, Familial Combined
Coronaviridae Infections
Prekallikrein Deficiency
Methylenetetrahydrofolate reductase deficiency
Leukodystrophy, Globoid Cell
Lateral Medullary Syndrome
Retinal Cone Dystrophy 1
MYOPATHY, CENTRONUCLEAR, 2
6-pyruvoyl-tetrahydropterin synthase deficiency
SPECIFIC LANGUAGE IMPAIRMENT 2
Hemorrhagic Disorders
Lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
Speech-Sound Disorder
Huntington Disease-Like 1
Anodontia
Spastic Paraplegia 36, Autosomal Dominant
Hereditary Sensory and Motor Neuropathy
Osteopetrosis, Autosomal Recessive 1
MYOPATHY, CENTRONUCLEAR, 1
Osteopetrosis, Autosomal Recessive 7
Bile Duct Diseases
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 4
Chondrosarcoma, Extraskeletal Myxoid
Thanatophoric dysplasia, type 2 ).
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
Severe Combined Immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH
FORSYTHE-WAKELING SYNDROME
Wolcott-Rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Liver Cirrhosis
Proctitis A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
Cataract, Nuclear Progressive
Adrenal hyperplasia 2
Cafe au lait spots, multiple
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
Factor XI Deficiency OMIM mapping confirmed by DO. [SN].
Platelet Disorder, Familial, with Associated Myeloid Malignancy
Endotoxemia
Emaciation
Respiratory Sounds
West Nile Fever A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
Partington X-linked mental retardation syndrome
Exudative vitreoretinopathy 1
Neoplasms, Radiation-Induced
Cold-Induced Sweating Syndrome 1
Leukoencephalopathy, Cystic, Without Megalencephaly
Cardiac valvular dysplasia, X-linked
Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
Persistent Mullerian duct syndrome A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
Anemia, Hemolytic, Congenital Nonspherocytic
Hyperinsulinemic hypoglycemia, familial, 6
Adenocarcinoma Of Esophagus
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Lacrimoauriculodentodigital syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
Thrombophilia, X-Linked, Due To Factor Ix Defect
Food Hypersensitivity A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
beta-Thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Preaxial deficiency, postaxial polydactyly and hypospadias
Desbuquois syndrome Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.
Nocturnal Enuresis Enuresis occurring during sleeping hours.
Combined Cellular And Humoral Immune Defects With Granulomas
Retinitis Pigmentosa 31
ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
USHER SYNDROME, TYPE IJ
Hyperexplexia hereditary
THYROTROPIN-RELEASING HORMONE DEFICIENCY
Cardiomyopathy, Restrictive
Apraxias
Nijmegen Breakage Syndrome OMIM mapping confirmed by DO. [SN].
Nephrosis, Lipoid
Basal Cell Nevus Syndrome OMIM mapping confirmed by DO. [SN].
GREENBERG DYSPLASIA
CREATINE PHOSPHOKINASE, ELEVATED SERUM
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Charcot-Marie-Tooth disease, Type 2K
Piebaldism OMIM mapping confirmed by DO. [SN].
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
Carbamoyl-Phosphate Synthase I Deficiency Disease
Facioscapulohumeral muscular dystrophy 1a
Adenoma, Liver Cell
Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).
Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Multiple Organ Failure
MICROPHTHALMIA, ISOLATED 5
MICROPHTHALMIA, ISOLATED 7
Hypomagnesemia 1, Intestinal
Tuberous Sclerosis 2
Dyskinesia, Drug-Induced
Shy-Drager Syndrome OMIM mapping confirmed by DO. [LS].
Tuberous Sclerosis 1
Adenosine Triphosphate, Elevated, Of Erythrocytes Autosomal dominant phenotype characterized by increase of red blood cell ATP.
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
Craniolenticulosutural Dysplasia
Chordoma A notochordal cancer that derives_from cellular remnants of the notochord.
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Mesenteric Ischemia
Angioedemas, Hereditary
Mandibuloacral dysplasia with type B lipodystrophy
Leukostasis
Virus Diseases
Deafness, Autosomal Dominant 44
Chylomicron retention disease Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
Language Disorders
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
Hyperlipoproteinemia Type IV OMIM mapping confirmed by DO. [SN].
Hypercalciuria, Absorptive, 2
Menstruation Disturbances
Optic Neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
Acro-Osteolysis Dissolution or degeneration of bone tissue of the phalanges of the hand.
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Hypothyroidism, Congenital, Nongoitrous, 4
Maxillary Diseases
Alopecia-Mental Retardation Syndrome 1
Osteogenesis Imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Alopecia-Mental Retardation Syndrome 2
Bartter syndrome, antenatal type 1
Cataract, Central Saccular, With Sutural Opacities
Pulmonary Alveolar Microlithiasis OMIM mapping confirmed by DO. [SN].
Red-Cell Aplasia, Pure disease cluster belonging to disease group unknown
Retinal Detachment OMIM mapping confirmed by DO. [SN].
Kabuki syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Heterotopia, Periventricular, Autosomal Recessive
Usher Syndromes
Leber Congenital Amaurosis 4
Pharyngeal Neoplasms
WOOLLY HAIR, AUTOSOMAL DOMINANT
Encephalitis Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures.
Tyrosine Kinase 2 Deficiency
Parkinsonism-Dystonia, Infantile
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
Esophageal Achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Retinitis Pigmentosa 35
Schizophrenia, Catatonic
Allanson Pantzar McLeod syndrome
Aarskog Syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
46, XY Sex Reversal 5
Hypotrichosis 5
Acrocephalopolysyndactyly Type II An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
Refractive Errors
Menkes Kinky Hair Syndrome
Mercury Poisoning, Nervous System
Cataract, posterior polar, 4
Ataxia Telangiectasia OMIM mapping confirmed by DO. [SN].
Cataract, posterior polar, 3
Achalasia Addisonianism Alacrimia syndrome OMIM mapping confirmed by DO. [SN].
Malignant hyperthermia susceptibility type 2
Edema, Cardiac
Orthostatic Hypotensive Disorder, Streeten Type
Rheumatic Diseases
Properdin deficiency, X-linked
Malignant hyperthermia susceptibility type 3
CRANIOECTODERMAL DYSPLASIA 2
Keratoderma, Palmoplantar
Drug Metabolism, Poor, CYP2D6-Related
Waardenburg syndrome, type 4
Cholesterol Ester Storage Disease
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
Malignant hyperthermia susceptibility type 1
Amnesia A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
Myopathy, Central Core
Inflammatory Bowel Disease 6
Malignant hyperthermia susceptibility type 6
Addison Disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Deafness, Autosomal Dominant 47
Mastocytosis, Systemic
Thoracic Diseases
CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
Chronic Pain Persistent pain, usually defined as pain that has laster longer than 3 to 6 months.
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Raine syndrome
Bethlem myopathy OMIM mapping confirmed by DO. [SN].
Muscle Hypotonia Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2
Cleft Palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Drug Metabolism, Poor, CYP2C19-Related
Coronary Thrombosis
Precancerous Conditions
EXOSTOSES, MULTIPLE, TYPE II
Opitz GBBB Syndrome, X-Linked
Burns
Laryngeal Neoplasms
COENZYME Q10 DEFICIENCY, PRIMARY, 1
Foodborne Diseases
Child Behavior Disorders
Bernard-Soulier Syndrome OMIM mapping confirmed by DO. [SN].
Hematologic Neoplasms
Keratoderma palmoplantar deafness
Alexander Disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Atrial Fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Thrombosis formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements
Cytomegalovirus Infections A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.|Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.
Bone Marrow Neoplasms
Pemphigus, Benign Familial OMIM mapping confirmed by DO. [SN].
Glutathione synthetase deficiency
Leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
Paroxysmal Extreme Pain Disorder
Porphyria, Acute Hepatic
Amelogenesis Imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation.
Mycobacterium Infections
Joubert Syndrome 8
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Cerulean cataract Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
Salmonella Infections
Renal Hypodysplasia, Nonsyndromic, 1
Inflammatory Bowel Disease 16
Leukodystrophy, Hypomyelinating, 5
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Inflammatory Bowel Disease 17
Spastic Paraplegia 34, X-Linked
Generalized Epilepsy With Febrile Seizures Plus, Type 6
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Focal cortical dysplasia of Taylor
Severe Dengue
Occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Neoplasm Recurrence, Local
Ehlers-Danlos syndrome 6B
Cafe-au-Lait Spots Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Ellis-Van Creveld Syndrome OMIM mapping confirmed by DO. [SN].
Cardiomyopathy, Familial Restrictive, 1
Keratosis palmoplantaris striata 3
Aortic Valve, Calcification of
AIDS-Related Complex
Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 8
Erythema Multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
Thymoma A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
Keratosis Palmoplantaris Striata II
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Myoglobinuria Presence of myoglobin in the urine.
Glucocorticoid Deficiency 2
Leukemia, Hairy Cell
Cardiomyopathy, Familial Hypertrophic, 2
Aneurysm, Intracranial Berry, 8
Oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
Cardiomyopathy, Familial Hypertrophic, 6
Silver-Russell Syndrome OMIM mapping confirmed by DO. [LS].
Movement Disorders
Trichothiodystrophy Syndromes
Popliteal Pterygium Syndrome NT MGI.
Congenital idiopathic intestinal pseudoobstruction
Laron Syndrome OMIM mapping confirmed by DO. [SN].
Optic Atrophy, Hereditary, Leber
Pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity.
Deafness, Autosomal Recessive 67
Neoplasms, Squamous Cell
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Pituitary Apoplexy
Retinal Cone Dystrophy 3A
TARP syndrome
Cataract, Zonular Pulverulent 3
Inflammatory Bowel Disease 7
Polydactyly
Hearing Loss reduced ability to perceive auditory stimuli
Inflammatory Bowel Disease 4
Amyloidosis, familial visceral
Carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Retinitis Pigmentosa 25
Spinal muscular atrophy, Jerash type
Myasthenia Gravis OMIM mapping confirmed by DO. [SN].
Tight skin contracture syndrome, lethal
Hyperinsulinism
Epilepsy, Frontal Lobe
Aniridia OMIM mapping confirmed by DO. [SN].
Budd-Chiari Syndrome
Muenke Syndrome
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Angina Pectoris Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Deafness, Autosomal Recessive 13
Microtia, Hearing Impairment, And Cleft Palate
NOONAN SYNDROME 7
Giant Lymph Node Hyperplasia
Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Mental Retardation, X-Linked 30
Cardiomyopathy, Hypertrophic, Familial
BRACHYDACTYLY, TYPE E2
Anus, Imperforate
Myopathy, Reducing Body, X-Linked, Childhood-Onset
Medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
Spinocerebellar Ataxia 17
Cataract, Zonular Pulverulent 1
Macular dystrophy, retinal, 1, North Carolina type
Anus Neoplasms
Neonatal-onset citrullinemia type 2
Mesenteric Vascular Occlusion
Acrodermatitis enteropathica
Currarino triad
Cone-Rod Dystrophy 8
Glycogen Storage Disease 0, Liver
Multicystic renal dysplasia, bilateral
Cone-Rod Dystrophy 3
Tangier Disease OMIM mapping confirmed by DO. [LS].
CARDIOMYOPATHY, DILATED, 3B
Cone-Rod Dystrophy 7
Oculootoradial syndrome IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
Cone-Rod Dystrophy 5 A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
Prinzmetal's variant angina
Carcinoma, Bronchogenic
Spinocerebellar Ataxia 10
Pseudohypoaldosteronism
Eye Diseases, Hereditary
Hemorrhage loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels
Lichenoid Eruptions
Arteritis Arterial inflammation.
MORM syndrome
Papilledema
Neuraminidase deficiency with beta-galactosidase deficiency
Vertical talus, congenital
Aniridia cerebellar ataxia mental deficiency
Nystagmus 1, congenital, X- linked
Hypertrophy, Left Ventricular
Roifman syndrome
Carcinoma, Small Cell
Airway Obstruction
Urinary Bladder, Overactive
Facial paresis, hereditary, congenital
Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Hypertension, Renovascular
Charcot-Marie-Tooth disease, Type 1C
Chondrodysplasia, Grebe type
Congenital anosmia
Corneal dystrophy Avellino type
Ambras syndrome Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
Urinary Bladder Calculi
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
Retinal Cone Dystrophy 3B
Usher syndrome, type 1C
Vohwinkel Syndrome, Variant Form
Incontinentia Pigmenti
Osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint.
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Acromegaloid features, overgrowth, cleft palate, and hernia
Inflammatory Bowel Disease 26
Orofacial Cleft 9
Myopia 16
Usher syndrome, type 1F
Beckwith-Wiedemann Syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Paroxysmal ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Blindness, Cortical
Ichthyosis with hypotrichosis, autosomal recessive
Orofacial Cleft 1
Hypoxia-Ischemia, Brain
Griscelli syndrome type 2
Chronobiology Disorders
Consciousness Disorders
Martsolf syndrome
Donnai-Barrow syndrome Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms).
Griscelli syndrome type 3
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Corneal Neovascularization
Necrosis
Corneal Dystrophy, Fuchs Endothelial, 6
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
Corneal Dystrophy, Fuchs Endothelial, 3
Dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
Vesicoureteral Reflux 2
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
Vasculitis, Leukocytoclastic, Cutaneous
Mental Retardation, Autosomal Recessive 13
Filaminopathy, autosomal dominant
Myopia 11
RAJAB SYNDROME
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Prion Diseases
Fecal Incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
Chorioamnionitis A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
Spinocerebellar Ataxias
Mental Retardation, X-Linked 23
Elliptocytosis 2
Metaphyseal chondrodysplasia Schmid type
Combined Oxidative Phosphorylation Deficiency 3
Skin Diseases
Deafness, Autosomal Dominant 25
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Dyschromatosis Universalis Hereditaria 2
Pneumothorax, Primary Spontaneous
Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Macular dystrophy, atypical vitelliform
Dermatitis, Allergic Contact
IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paroxysmal nonkinesigenic dyskinesia
Colic
Tachycardia, Paroxysmal
Melanoma, Amelanotic
Norman Roberts lissencephaly syndrome
Olfaction Disorders
DEAFNESS, AUTOSOMAL RECESSIVE 91
Deafness, Autosomal Recessive 77
Deafness, Autosomal Dominant 15
Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Amelogenesis Imperfecta, Type IV
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Pneumonia, Bacterial
Histiocytosis, Sinus
Achondrogenesis type 1A
Autistic Disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Emphysema
Bruxism A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Pantothenate Kinase-Associated Neurodegeneration A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.
Deafness, Autosomal Dominant 10
Acute-Phase Reaction
Hyperthyroxinemia
Hyperparathyroidism 2
Facies
Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 6
Multiple Endocrine Neoplasia Type 2a An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Atrial Fibrillation, Familial, 4
Meningism
Stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Hyperalgesia increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)
Hypokinesia Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Soft Tissue Neoplasms
Cholestasis, progressive familial intrahepatic 1
Harlequin type ichthyosis
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Polyps Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.
Rhinitis, Allergic, Perennial
Cholestasis, progressive familial intrahepatic 2
Thyroid Dyshormonogenesis 2A
Nausea A sensation of unease in the stomach together with an urge to vomit.
Griscelli syndrome type 1
Nevus, Sebaceous of Jadassohn
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Hypertrichosis
Hypothyroidism, Congenital, Nongoitrous, 5
Thrombophilia, hereditary
Cardiomyopathy, Dilated, 1FF
Senior-Loken Syndrome 3
Hartnup Disease An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Bronchitis, Chronic
Laryngismus
Mental Retardation, X-Linked 91
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
Splenomegaly Abnormal increased size of the spleen.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Aneurysm Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Myopia 8
Glycosuria An increased concentration of glucose in the urine.
Osteochondrodysplasias
HIV-Associated Lipodystrophy Syndrome
Ciliary Dyskinesia, Primary, 6
Craniosynostosis, anal anomalies, and porokeratosis
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
FANCONI ANEMIA, COMPLEMENTATION GROUP C
Charcot-Marie-Tooth disease, Type 1D
Synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
Proopiomelanocortin Deficiency
Laryngo onycho cutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
Cerebral Infarction
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Oculocerebrorenal Syndrome OMIM mapping confirmed by DO. [SN].
Scleroderma, Localized
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
Lymphoma, Follicular
Ulcer
Long Qt Syndrome 9
Usher Syndrome, Type IG
Elliptocytosis, Hereditary
Dyspnea Difficult or labored breathing.
Port-Wine Stain A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Craniosynostoses
Hemangioendothelioma
Skin Abnormalities
DEAFNESS, AUTOSOMAL DOMINANT 27
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Back Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Oral Submucous Fibrosis
Macular dystrophy, concentric annular
USHER SYNDROME, TYPE IIIA
Lacrimal Apparatus Diseases
Herpesviridae Infections
Creutzfeldt-Jakob Syndrome
Lamellar ichthyosis, type 2
Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Neovascularization, Pathologic
LEFT VENTRICULAR NONCOMPACTION 2
North American Indian Childhood Cirrhosis
LEFT VENTRICULAR NONCOMPACTION 1
Abnormalities, Severe Teratoid
Priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Neuroaxonal Dystrophies
Spondyloenchondrodysplasia
Retinitis Pigmentosa 7
Reed's syndrome
Transient Myeloproliferative Disorder of Down Syndrome
Corpus Callosum, Partial Agenesis of, X-Linked
Miles-Carpenter x-linked mental retardation syndrome
Mucocutaneous Lymph Node Syndrome A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
Aneuploidy chromosome count is not an exact multiple of the haploid number
Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 1
Hyperferritinemia, hereditary, with congenital cataracts
Epileptic Encephalopathy, Early Infantile, 2
Tremor An unintentional, oscillating to-and-fro muscle movement.
Diaphragmatic Hernia 2
Ovarian Neoplasms
Snowflake vitreoretinal degeneration
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H
Cardiomyopathy, Dilated, 1DD
Vascular System Injuries
Placenta Diseases
Mental Retardation, X-Linked 95 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
Epidermolysis Bullosa Simplex
Sacral defect and anterior sacral meningocele
Spastic paraplegia type 5A, recessive
Fetal Resorption
Mood Disorders
Retinitis Pigmentosa 26
Alcohol-Related Disorders
Oroticaciduria 1
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
Muscular Dystrophies, Limb-Girdle
Mental Retardation, X-Linked 9
Infertility, Female
Lipid Metabolism, Inborn Errors
Cone-Rod Dystrophy 13
Stomach Ulcer
Wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
Hypoplastic Left Heart Syndrome A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
Ciliary Dyskinesia, Primary, 13
Hypophosphatemic Rickets, Autosomal Dominant
Ciliary Dyskinesia, Primary, 11
Ciliary Dyskinesia, Primary, 10
Albuminuria Increased concentration of albumin in the urine.
Myasthenia, Familial Infantile, 1
Alcohol-Induced Disorders, Nervous System
Keratosis, Seborrheic
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
DEAFNESS, AUTOSOMAL RECESSIVE 85
Abruptio Placentae A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
Transposition of Great Vessels A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
Diabetic Cardiomyopathies
Leydig Cell Tumor
Senior-Loken Syndrome 5
Drug-Induced Liver Injury, Chronic
Hypertensive Encephalopathy
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Ichthyosiform erythroderma, Brocq congenital, nonbullous form
Paraproteinemias
Intervertebral disc disease disease cluster belonging to disease group aging
Woodhouse Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Neutropenia, Severe Congenital, Autosomal Dominant 2
Pseudotumor Cerebri OMIM mapping confirmed by DO. [SN].
Hernias, Diaphragmatic, Congenital
POLYDACTYLY, PREAXIAL II
Adrenocortical Carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Myopathy, Distal, with Anterior Tibial Onset
Rhinitis, Allergic
Classical Lissencephalies and Subcortical Band Heterotopias disease cluster belonging to disease group unknown
Glucocorticoid Deficiency 3
Synpolydactyly 2
Intrinsic Factor Deficiency
Hyperemia The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).|The presence of an increased amount of blood in a part or organ; engorgement.
Hydrocephalus, X-linked A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
Alcoholism
Allan-Herndon-Dudley syndrome An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
Cardiomyopathy, Familial Hypertrophic, 4
Retinal Artery Occlusion
Gangliosidosis, GM1 OMIM mapping confirmed by DO. [SN].
Sarcoglycanopathies
Vacuolar Neuromyopathy
Carcinoma, Basal Cell
Larsen-Like Syndrome
NEVER IN MITOSIS GENE A-RELATED KINASE 1
Greig cephalopolysyndactyly syndrome An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Stuttering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
Chromosome 17 deletion
Keratomalacia
Meier-Gorlin syndrome An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
Oculopalatoskeletal syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
Adenosine monophosphate deaminase deficiency
Bronchiolitis A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Cognition Disorders
Optic atrophy 1 and deafness
Trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair.
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Hypoparathyroidism-retardation-dysmorphism syndrome
Pyruvate Metabolism, Inborn Errors
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Hypophosphatemic Rickets with Hypercalciuria, Hereditary
Usher syndrome, type 2A
Gerodermia osteodysplastica
Sclerosis
Cerebral Amyloid Angiopathy, App-Related
Neurofibromatosis 1
Neurofibromatosis 2
Chest Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Muscular Dystrophy, Animal
Barrett Esophagus
Von Willebrand disease, platelet type
Psychomotor Agitation
alpha 1-Antitrypsin Deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Myopia 3
Choledocholithiasis
Congenital Disorder Of Glycosylation, Type IIF Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Aortic Aneurysm, Familial Abdominal 1 An aortic aneurysm that is located_in the abdominal aorta.
Neointima
Laryngeal Diseases
Ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.
Leukemia, Myeloid, Acute
Retinitis Pigmentosa 32
Retinitis Pigmentosa 33
Hypertension
Muscle Weakness Reduced strength of muscles.
Retinitis Pigmentosa 36
Combined Oxidative Phosphorylation Deficiency 2
Mandibulofacial Dysostosis OMIM mapping confirmed by DO. [SN].
Hyperglycemia
Fatty Liver The presence of steatosis in the liver.
Intracranial Hemorrhages
STUTTERING, FAMILIAL PERSISTENT, 1
Thrombophlebitis A phlebitis that results from a blood clot in the vessel.
Ectrodactyly-cleft lip/palate syndrome
Osteoarthritis, Hip
Deafness, X-Linked 5
Pre-Eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
Metabolic Syndrome X OMIM mapping confirmed by DO. [SN].
PROSTATE CANCER, HEREDITARY, 1
Spherocytosis, Type 1
Brugada Syndrome 6
Aneurysm, Intracranial Berry, 3
Bacteremia An infection that has as part bacteria located in the blood.
Lung Diseases, Interstitial
Thyroid Carcinoma, Nonmedullary 1
Prader-Willi Syndrome OMIM mapping confirmed by DO. [SN].
Endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
Miyoshi myopathy Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes.
Cerebrooculofacioskeletal Syndrome 4
Coronary Artery Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Cerebrooculofacioskeletal Syndrome 2
Plasminogen Deficiency, Type I
Cerebrooculofacioskeletal Syndrome 1
Hyperparathyroidism, Secondary
Rh-Null, Regulator Type
Sick Sinus Syndrome 2, Autosomal Dominant
Osteopathia striata cranial sclerosis Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Hyperuricemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Congenital disorder of glycosylation type 1A Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood.
Neuropathy, hereditary motor and sensory, Russe type
Deafness, Autosomal Recessive 79
Fatty Liver, Alcoholic
Machado-Joseph Disease A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Infection The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism.
Gait Ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Vestibular Diseases
Hypomagnesemia primary
Wounds, Penetrating
Pemphigoid, Bullous
Cushing Syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
Vasculopathy, Retinal, With Cerebral Leukodystrophy
Scleroderma, Systemic
Congenital disorder of glycosylation, type 2C
Peptic Ulcer Hemorrhage
Craniosynostosis radial aplasia syndrome
MIRROR MOVEMENTS 1
Welander distal myopathy, Swedish type
Blepharophimosis, Ptosis, and Epicanthus Inversus
Hypotrichosis And Recurrent Skin Vesicles
LEOPARD Syndrome OMIM mapping confirmed by DO. [SN].
Kidney Diseases
Split hand foot deformity 1
Hair Diseases
SUPPRESSOR OF TUMORIGENICITY 3
Parasomnias
Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 2
Gingival Hyperplasia
Maturity-Onset Diabetes of the Young, Type 4
Intracranial Hypertension
Lethal Congenital Contracture Syndrome 2
Parkinson Disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Papillon-Lefevre Disease OMIM mapping confirmed by DO. [SN].
Signs and Symptoms, Digestive
Diamond-Blackfan Anemia 4
Corneal Dystrophy, Endothelial, X-Linked
Mental Retardation, X-Linked 77
Fertile eunuch syndrome
Adams-Stokes Syndrome
Episodic Kinesigenic Dyskinesia 1
Osteopetrosis, Autosomal Recessive 6
Chondrodysplasia, acromesomelic, with genital anomalies
Aphakia, congenital primary OMIM mapping confirmed by DO. [SN].
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
IgA Deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
Chondroblastoma
USHER SYNDROME, TYPE IID
Deafness, Autosomal Recessive 33
Hernia, Diaphragmatic
Deafness, Autosomal Recessive 31
Hypercalcemia
Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 35
Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 12
Deafness, Autosomal Recessive 38
Deafness, Autosomal Recessive 39
Chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
Sarcoma, Kaposi
Mental Retardation, X-Linked, Syndromic 14
Aicardi-Goutieres syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Moyamoya Disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Macular Dystrophy, Retinal, 2
Sick Sinus Syndrome 1, Autosomal Recessive
Heart Injuries
Potocki-Shaffer syndrome
Tongue Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Gilbert Disease
Aneurysm, Intracranial Berry, 9
Lipase deficiency combined
Hyperglycinemia, Nonketotic
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Methemoglobinemia Type IV
Ventricular Premature Complexes
Iron Metabolism Disorders
Mitral Valve Prolapse, Myxomatous 3
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Dementia, familial British
Cardiac Conduction Defect
Myocardial Reperfusion Injury
Tremor hereditary essential, 2
Foot Dermatoses
Paraplegia
Cleft Lip
Aicardi Syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
NOG-Related-Symphalangism Spectrum Disorder
CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
LEOPARD SYNDROME 3
Noonan Syndrome 2
DNA Repair-Deficiency Disorders
Exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
Leukodystrophy, Hypomyelinating, 4
Polyposis Syndrome, Hereditary Mixed, 2
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Hypotonia-Cystinuria Syndrome Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Abortion, Spontaneous
Congenital thrombotic disease, due to Protein C deficiency
DEAFNESS, AUTOSOMAL RECESSIVE 83
Methylmalonic Aciduria and Homocystinuria, CblD Type
Proteus Syndrome OMIM mapping confirmed by DO. [SN].
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
Truncus Arteriosus, Persistent
Mucolipidoses
Nystagmus 2, congenital, autosomal dominant
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
Hypothyroidism, Congenital, Nongoitrous, 3
Brain Stem Infarctions
Enterokinase Deficiency
Multiple Myeloma A myeloma that is located_in the plasma cells in bone marrow.
Congenital contractural arachnodactyly
Prostate Cancer, Hereditary, 10
Pulmonary Disease, Chronic Obstructive
Erythromelalgia
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Catalepsy a condition characterized by inactivity, lack of response to stimuli, and a tendency to maintain an immobile posture; the limbs tend to remain in whatever position they are placed (waxy rigidity); occurs with some psychoses, nervous system drug toxicity, and other conditions
Dysgammaglobulinemia A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
MYOPATHY, MYOFIBRILLAR, 1
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
MYOPATHY, MYOFIBRILLAR, 4
Methemoglobinemia
MYOPATHY, MYOFIBRILLAR, 6
Sarcoma, Experimental
Ataxia, Spastic, 3, Autosomal Recessive
Epstein-Barr Virus Infections Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).|A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.
THIOUREA TASTING
Pilomatrixoma OMIM mapping confirmed by DO. [SN].
Optic Atrophy 7
Tauopathies
Leukoplakia, Oral
Ependymoma The presence of an ependymoma of the central nervous system.
FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP F
Head and Neck Neoplasms Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1
Hyperbilirubinemia An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
Arthrogryposis multiplex congenita neurogenic type
Lactase Deficiency, Congenital
Tooth Abnormalities
Akinetic Mutism A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
Infant, Newborn, Diseases
Periodontal Diseases
Jaundice, Obstructive
Limb-girdle muscular dystrophy type 2F
Pasteurellaceae Infections
Lecithin Acyltransferase Deficiency OMIM mapping confirmed by DO. [SN].
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
Thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood.
Hypervitaminosis A
Vitreoretinopathy, Proliferative
Nance-Horan syndrome
Congenital disorder of glycosylation type 2D
Spinal Curvatures
Alzheimer Disease 14
Neurilemmoma
Interleukin 2 Receptor, Alpha, Deficiency of
Lipoprotein Glomerulopathy
Hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
Coronary Artery Disease, Autosomal Dominant 2
Hypophosphatemia
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Hypoprothrombinemias
Primary Myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
Esophageal Stenosis An abnormal narrowing of the lumen of the esophagus.
Vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
Hypospadias 1, X-Linked
Deafness, Autosomal Recessive 40
Kidney Papillary Necrosis
Inflammatory Bowel Disease 9
Cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
Deafness, X-Linked 3
Nystagmus 4, congenital, autosomal dominant
Kyphoscoliosis 1
Cystitis, Interstitial
Alzheimer Disease 11
Neuropathy, Distal Hereditary Motor, Type IIA
Carcinoid Tumors, Intestinal
Beta ketothiolase deficiency OMIM mapping confirmed by DO. [SN].
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
Polyradiculopathy
Primary Ovarian Insufficiency An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
Cranioectodermal Dysplasia OMIM mapping confirmed by DO. [SN].
Transaldolase Deficiency
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Optic Atrophy 4
Kleefstra Syndrome Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Aortic Stenosis, Subvalvular
Williams Syndrome
HIV Wasting Syndrome
Alzheimer Disease 16
TERMINAL OSSEOUS DYSPLASIA
Anemia, Diamond-Blackfan, 2
Gingival Hypertrophy
Alzheimer Disease 12
Jaundice, Neonatal
Alzheimer Disease 10
Paragangliomas 2
Acrocallosal Syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Pyelonephritis
SUPERNUMERARY DER(22)t(8
Geniospasm Involuntary and irregular twitches of the chin.
Epidermolysis Bullosa, Junctional
Deafness, Autosomal Recessive 46
Fanconi Anemia, Complementation Group J
Vascular Malformations
Skin Diseases, Vascular
Pleural Neoplasms
Lattice corneal dystrophy type 1 Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Anti-plasmin deficiency, congenital
Dermatitis, Atopic, 1
Dermatitis, Atopic, 3
Abdominal obesity metabolic syndrome OMIM mapping confirmed by DO. [SN].
Dermatitis, Atopic, 5
Uterine Diseases
Dermatitis, Atopic, 7
Osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
Gram-Positive Bacterial Infections
Anxiety Disorders
Narcolepsy 1
Dystonia musculorum deformans type 2
Anaplasia
Acidosis, Lactic
C SYNDROME C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Mental Retardation, X-Linked 3
Nanophthalmos 2
Charcot-Marie-Tooth disease, X-linked, 1
Anemia, sideroblastic spinocerebellar ataxia
Amyotrophic Lateral Sclerosis 11 A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
Carnevale syndrome
Candidiasis familial chronic mucocutaneous, autosomal recessive
Neurodegenerative Diseases
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
Cataract, Juvenile, With Microcornea And Glucosuria
Aortic Aneurysm, Thoracic
Fanconi Anemia, Complementation Group B
Snyder Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.
Paragangliomas 3
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Thanatophoric Dysplasia, Type I
Torticollis
Deafness, Autosomal Recessive 44
Osteolysis hereditary multicentric
Klippel-Trenaunay-Weber Syndrome A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Migraine without Aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
Hiccup
Corneal dystrophy, Fuchs' endothelial, 2
Hairy Ears, Y-Linked
Amnesia, Anterograde
Spastic Paraplegia 7, Autosomal Recessive
Fanconi Anemia, Complementation Group N
Hereditary spastic paralysis, infantile onset ascending
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8
Waardenburg Syndrome, Type 2C
Mammary Neoplasms, Animal
Acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Muscular dystrophy congenital, merosin negative
Gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
Hypercholesterolemia, Autosomal Recessive
Hypernatremia An abnormally increased sodium concentration in the blood.
Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Gliosis, Familial Progressive Subcortical
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Cleidocranial Dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Parietal Foramina 3
Heart-hand syndrome, Slovenian type Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Male Urogenital Diseases
Deafness, Autosomal Recessive 26
Infant, Premature, Diseases
Acidosis, Renal Tubular
Amyotrophic Lateral Sclerosis, Sporadic
Lipoma A cell type benign neoplasm that is composed of lipocytes.
Prolonged Electroretinal Response Suppression
FRONTONASAL DYSPLASIA 1
FRONTONASAL DYSPLASIA 2
Dermatitis, Atopic, 2
Lissencephaly, X-Linked, 2
Macrophthalmia, Colobomatous, with Microcornea
Otitis Media A otitis which involves inflammation of the middle ear.
Cartilage-hair hypoplasia OMIM mapping confirmed by DO. [SN].
Spinocerebellar Ataxia 11
Folate Malabsorption, Hereditary
Succinyl-CoA:3-oxoacid CoA transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Neurobehavioral Manifestations Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.
Ventricular Dysfunction
Atrial septal defect 2
Nemaline myopathy 6
Spinal muscular atrophy 4
Spastic paraplegia 4, autosomal dominant
Hyponatremia An abnormally decreased sodium concentration in the blood.
Gonadal Dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Neurotoxicity Syndromes
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Ceroid lipofuscinosis, neuronal 1, infantile
Phobic Disorders
Atelosteogenesis type 2 Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Fragile X Syndrome A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function.
Tooth Agenesis, Selective, X-Linked, 1
Weaver syndrome OMIM mapping confirmed by DO. [LS].
Polydactyly, Postaxial Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Nasal Obstruction Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Plasmacytoma
Glycogen Storage Disease 0, Muscle
Optic atrophy 5
CD8 Deficiency, Familial
Hyperlysinemias
Neuraminidase 1 deficiency
Dystonia 13, Torsion
Meningitis, Haemophilus
Neoplasm Metastasis
Fetal Alcohol Spectrum Disorders
Dystonia musculorum deformans type 1
Drug Hypersensitivity
Renal Tubular Acidosis, Distal, With Hemolytic Anemia
Nanophthalmos 1
Premature Birth The birth of a baby of less than 37 weeks of gestational age.
Basal ganglia disease, biotin-responsive
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
Behcet Syndrome A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
Blepharophimosis syndrome type 1
Bullous Dystrophy, Hereditary Macular Type
Polyarteritis Nodosa
AXENFELD-RIEGER SYNDROME, TYPE 1
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
AXENFELD-RIEGER SYNDROME, TYPE 3
AXENFELD-RIEGER SYNDROME, TYPE 2
Crouzon Syndrome With Acanthosis Nigricans
Indifference to Pain, Congenital, Autosomal Recessive
Somatoform Disorders
Microsatellite Instability
Moebius syndrome 1
MEGALOBLASTIC ANEMIA 1
Bone Marrow Diseases
Myopia 10
Graves Ophthalmopathy
Diabetes Mellitus, Insulin-Dependent, 24
Methylmalonic aciduria cblA type
Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Venous Malformations, Multiple Cutaneous and Mucosal
Phagocyte Bactericidal Dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
Sleep Deprivation
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA No OMIM mapping, confirmed by DO. [SN].
Posterior column ataxia with retinitis pigmentosa
Non-alcoholic Fatty Liver Disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
Sarcoma, Ewing disease cluster belonging to disease group cancer
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
Influenza, Human
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Brachydactyly type A1
Microphthalmos An eye disease where one or both eyeballs are abnormally small.
Hydroxykynureninuria
Folic Acid Deficiency
Berylliosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
Goiter, Multinodular 2
Telangiectasis
Lysosomal acid lipase deficiency Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Amyloidosis, Hereditary, Transthyretin-Related An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Neutrophilia, Hereditary
Insomnia, Fatal Familial
46, XY Disorders of Sex Development
Neuromuscular Manifestations
Usher Syndrome, Type IH
Coronary Aneurysm
Dermatitis, Contact
Retinal Dystrophies
Pseudoxanthoma Elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Fibroma
Lymphoma, B-Cell
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Dog Diseases
Hypersplenism
BRACHYDACTYLY, TYPE B2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Vitamin B 12 Deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12.
Robinow syndrome, autosomal recessive
Stomatognathic System Abnormalities
Hot Flashes
Diabetic Nephropathies
Embolism, Cholesterol
Thyroid Neoplasms
Liver Cirrhosis, Alcoholic
Dysmenorrhea Pain during menstruation that interferes with daily activities.
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
Caudal Duplication Anomaly
Ocular Hypertension
Amelogenesis Imperfecta, Type Ic
Porphyria, South African type
Graves Disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
Pancreatitis, Alcoholic
Hematologic Diseases
Lupus Nephritis Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982).
Arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
Cerebellar Ataxia, Cayman Type
Isolated Growth Hormone Deficiency, Type II
Polyostotic osteolytic dysplasia, hereditary expansile
Reflex Sympathetic Dystrophy OMIM mapping confirmed by DO. [SN].
Radiation Injuries
Deafness, Autosomal Recessive 27
ATRIOVENTRICULAR SEPTAL DEFECT 3
Spinal Dysraphism OMIM mapping confirmed by DO. [LS].
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Urinary Bladder, Neurogenic
Deafness, Autosomal Recessive 22
SEIZURES, BENIGN FAMILIAL NEONATAL, 2
Pituitary dwarfism 1
Reflex, Abnormal
Lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Blister
Familial HDL deficiency
Corneal Dystrophy, Crystalline, of Schnyder
Postoperative Nausea and Vomiting Emesis and queasiness occurring after anesthesia.
Fg Syndrome 5
Ptosis, Hereditary Congenital 1
Pain, Postoperative
Afibrinogenemia
Hepatic Veno-Occlusive Disease
Plaque, Atherosclerotic
Oligomenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles).
Panniculitis, Nodular Nonsuppurative
Familial dermographism
FRONTONASAL DYSPLASIA 3
Candidiasis, Familial, 3
Hepatic venoocclusive disease with immunodeficiency
Inflammatory Bowel Disease 25, Autosomal Recessive
Ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
Dermatitis, Atopic, 4
Pleural Diseases
Maxillary Neoplasms
Bone Diseases, Metabolic
Low Back Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME
Smith-Magenis Syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin.
Keratoconus 4
Skin Ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Shellfish Poisoning
Keratoconus 1
Brain Edema
Keratoconus 3
Scleroatonic muscular dystrophy
Lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Ichthyosis, Lamellar, 5
Chondrodysplasia punctata, brachytelephalangic
Hypotension, Orthostatic
Pain Insensitivity, Congenital
Myopathy with lactic acidosis and sideroblastic anemia
Cone Dystrophy 3
Melorheostosis An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
Oligodontia-Colorectal Cancer Syndrome
Tourette Syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Anophthalmos
Retinitis Pigmentosa 42
Macular Degeneration, Age-Related, 9
Fanconi Anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Deafness, Aminoglycoside-Induced
Macular Degeneration, Age-Related, 3
Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 1
Malpuech facial clefting syndrome
Macular Degeneration, Age-Related, 7
46,XY SEX REVERSAL 1
Endocarditis, Bacterial
Leukemia, Plasma Cell
Wolff-Parkinson-White Syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
Nemaline myopathy 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Galactorrhea-Hyperprolactinemia
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Femoral Fractures
Anemia, Hemolytic
Dermatitis, Atopic, 6
Infantile polyarteritis
Landau-Kleffner Syndrome OMIM mapping confirmed by DO. [SN].
Corneal dystrophy, Fuchs' endothelial, 1
Hypoproteinemia, Hypercatabolic
Lubs X-linked mental retardation syndrome
Stargardt disease 3
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4c
Multiple Synostoses Syndrome 3
Stargardt disease 4
Split-Hand/Foot Malformation 6
Episodic ataxia with nystagmus
Sleep Apnea, Obstructive
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
Carcinoma, Ehrlich Tumor
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
Diabetes Mellitus, Insulin-Dependent, 23
Schnitzler Syndrome
Hyperphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Mental Disorders
ATELOSTEOGENESIS, TYPE III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Optic Atrophies, Hereditary
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
Arnold-Chiari Malformation Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Hypotension Low Blood Pressure, vascular hypotension.
Turcot syndrome
Li-Fraumeni Syndrome 2
Oculodigitoesophagoduodenal syndrome
Respiratory Tract Infections
Arthralgia Joint pain.
Glycogen Storage Disease Type IV
Joubert syndrome 2
Joubert syndrome 3
Hypoparathyroidism, X-Linked
Joubert syndrome 1
Joubert syndrome 6
Pulmonary Emphysema
Occupational Diseases
Joubert syndrome 5
Patterned dystrophy of retinal pigment epithelium
Heterotopia, Periventricular, Ehlers-Danlos Variant
Heavy Metal Toxicity
Aneurysm, Intracranial Berry, 4
Heart Septal Defects
Eyelid Diseases
Carnitine-Acylcarnitine Translocase Deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Fibromatosis, gingival, 3
LIVER FAILURE, INFANTILE, TRANSIENT
Refsum Disease, Infantile
Sleep Apnea Syndromes
Affective Disorders, Psychotic
Astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
Bulbospinal neuronopathy, X-linked recessive
Hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Schimke immunoosseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Epidermolysis bullosa with pyloric atresia
Hypercholesterolemia, Autosomal Dominant, 3
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Corneal Dystrophy, Lisch Epithelial
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Ectodermal Dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Conduct Disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Biliary Atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Paranoid Disorders
Kernicterus
Spinocerebellar ataxia 26
ACTH Syndrome, Ectopic
Mental Retardation, Fra12a Type
Granuloma, Foreign-Body
Tooth Loss
Homozygous 11p15-p14 Deletion Syndrome
Prenatal Exposure Delayed Effects
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
Nemaline myopathy 5
Learning Disorders
DEAFNESS, AUTOSOMAL RECESSIVE 8
Lipodystrophy, Partial, Acquired
Pentalogy of Cantrell
Brachydactyly-Syndactyly Syndrome OMIM mapping confirmed by DO. [SN].
Polycystic liver disease
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
Diffuse panbronchiolitis Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
Immunodeficiency without anhidrotic ectodermal dysplasia
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
Clubfoot OMIM mapping confirmed by DO. [SN].
Liver Cirrhosis, Experimental
Peliosis Hepatis
Spinocerebellar ataxia 28
VACTERL hydrocephaly
Craniofrontonasal dysplasia OMIM mapping confirmed by DO. [SN].
Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Ventricular Fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Congenital disorder of glycosylation type 1G
Temporomandibular Joint Dysfunction Syndrome
Hyperlipoproteinemia Type I
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
Hyperlipoproteinemia Type V OMIM mapping confirmed by DO. [SN].
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
Torsion dystonia 7
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
Limb-girdle muscular dystrophy, type 2C
Limb-girdle muscular dystrophy, type 2B
Corneal dystrophy, epithelial basement membrane
Acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly.
Schistosomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
Spastic paraplegia type 5B, recessive
Mobility Limitation
Deafness, Autosomal Recessive 62
Thrombocytopenia 1
Radiation Injuries, Experimental
Spastic Paraplegia 31, Autosomal Dominant
Osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Bifid Nose With Or Without Anorectal And Renal Anomalies BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).
Absent corpus callosum cataract immunodeficiency
Spastic paraplegia 16, X-linked
Celiac Disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
Urinary Retention Inability to completely empty the urinary bladder during the process of urination.
Neisseriaceae Infections
Telangiectasia, Hereditary Hemorrhagic
Lymphoma, T-Cell, Cutaneous
Waardenburg Syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Periventricular Nodular Heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
Holoprosencephaly 8
Bazex-Dupre-Christol syndrome
Hypertrophy, Right Ventricular
Brachyolmia Type 3 Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis.
Hypothermia Reduced body temperature due to failed thermoregulation.
Ectopia Lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
DEAFNESS, AUTOSOMAL DOMINANT 4A
Opisthorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 2
Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Genetic Predisposition to Disease
Asphyxia Neonatorum
Metrorrhagia Bleeding at irregular intervals.
Dimauro disease
Spastic Paraplegia 42, Autosomal Dominant
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
Mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Arthritis, Experimental
Spinal muscular atrophy with respiratory distress 1
Adrenal Hyperplasia, Congenital
Methylcobalamin Deficiency, CblG Type
Capillary Malformation-Arteriovenous Malformation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
Flaujeac factor deficiency
Genital Neoplasms, Female
Spondylitis, Ankylosing
Hernia, Ventral
Kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
Torsades de Pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
Hydrops Fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Spastic Paraplegia 33, Autosomal Dominant
Oculodentodigital Dysplasia NT MGI.
Exanthema
Glaucoma 3, primary infantile, B
Lung Diseases, Obstructive
Glycogen Storage Disease IXB
Sebaceous Gland Neoplasms
Mastocytosis, Cutaneous
Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Leukemia, T-Cell
Pigmentary Disorder, Reticulate, with Systemic Manifestations
Pancytopenia
Agranulocytosis
Anal sphincter dysplasia
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
Ribose 5-Phosphate Isomerase Deficiency
Varicocele
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Slowed Nerve Conduction Velocity, Autosomal Dominant
Coronary Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Glutathionuria
Muscular Dystrophy, Limb-Girdle, Type 2J
Myotonia Congenita OMIM mapping confirmed by DO. [SN].
Neoplasms, Experimental
Brain Infarction
Cardiomyopathy, Alcoholic
Kearns-Sayre Syndrome OMIM mapping confirmed by DO. [SN].
Bartter syndrome, type 3 Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Xanthinuria, Type I
Mitral Valve Prolapse, Myxomatous 2
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
Chilblain lupus
Metabolism, Inborn Errors
Epidermolysis Bullosa Dystrophica Neurotrophica
Anemia, Hypoplastic, Congenital
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
Pemphigus
Parkinson Disease, Secondary
CATARACT 32, MULTIPLE TYPES
Van Maldergem Wetzburger Verloes syndrome
Aberrant Crypt Foci a neoplastic lesion in which large, thick clusters of abnormal tube-like glands are found in the lining of the colon and rectum; aberrant crypt foci are precursors of colorectal polyps, adenoma and colon cancer
Anal Canal Carcinoma An anal canal cancer that derives_from epithelial cells.
Dystonia 17, Torsion, Autosomal Recessive
Ischemic Attack, Transient
Histiocytic Disorders, Malignant
Branchiootic Syndrome 3
Neuronopathy, Distal Hereditary Motor, Type V
Agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
Cardiac Output, Low
Mental Retardation, X-Linked, with Short Stature
Carcinosarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Eye Abnormalities disease cluster belonging to disease group vision
Epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Carcinogenesis
Growth Disorders
Osteitis Deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Mitochondrial Diseases
Meningococcal Infections Infections with bacteria of the species NEISSERIA MENINGITIDIS.
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Labor Pain
Mason-Type Diabetes A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
Spastic paraplegia 17
Retinitis Pigmentosa 11
Bone Diseases, Developmental
Retinitis Pigmentosa 14
Gallbladder Diseases
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Charcot-Marie-Tooth Disease, Type 4j
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Myotilinopathy
Spastic paraplegia 11, autosomal recessive
Postoperative Complications
Hematoma, Subdural
Heroin Dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
Osteogenesis imperfecta, type 7
Lipodystrophy, Congenital Generalized
Osteogenesis imperfecta, type 3 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Mutism A speech disorder that involves a complete inability to speak.
Diabetic Angiopathies
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Leiomyoma A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
Corneal dystrophy and perceptive deafness
Kidney Tubular Necrosis, Acute
Visceral Myopathy, Familial
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Hyperthyroidism, Familial Gestational
Anemia, Diamond-Blackfan
Nephrocalcinosis
Hematuria, Benign Familial
Hepatic Encephalopathy
Exostoses, Multiple Hereditary
Facial Paralysis
CAROTID INTIMAL MEDIAL THICKNESS 2
Cholestasis, Intrahepatic
Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.
VLCAD deficiency Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Cardiomegaly Increased size of the heart.
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
Central Nervous System Infections
Bone Cysts, Aneurysmal
Myelodysplastic Syndromes
Tracheoesophageal Fistula An abnormal connection (fistula) between the esophagus and the trachea.
Premature Ovarian Failure 3
Premature Ovarian Failure 5
Deafness, Autosomal Recessive, 24
Premature Ovarian Failure 7
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Winkelman Bethge Pfeiffer syndrome
Stress Disorders, Post-Traumatic
Cardiomyopathy, Dilated
Prostate Cancer, Hereditary, X-Linked 2
Pelvic Organ Prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.
Ciliary Dyskinesia, Primary, 9
Brain Stem Neoplasms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Phosphoribosylpyrophosphate Synthetase Superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement.
Eye Diseases
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Amyloidosis IX
Immunoblastic Lymphadenopathy
Malignant Hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
Retinal Diseases
Uterine Hemorrhage presence of bleeding in the uterus; often in response to failed pregnancy
Seizures, Febrile
Intervertebral Disc Degeneration The presence of degenerative changes of intervertebral disk.
Diabetes Mellitus, Insulin-Dependent, 15
Hirschsprung Disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 12
Diabetes Mellitus, Insulin-Dependent, 11
Vision Disorders
Revesz Debuse syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Anauxetic dysplasia OMIM mapping confirmed by DO. [SN].
Diabetes Mellitus, Insulin-Dependent, 19
Diabetes Mellitus, Insulin-Dependent, 18
Bruck syndrome 1
Bruck syndrome 2
Aortic Aneurysm, Abdominal
Epilepsy, Idiopathic Generalized disease cluster belonging to disease group neurological
18-Hydroxylase deficiency
Pleurisy A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
Alveolitis, Extrinsic Allergic
Congenital hypertrichosis lanuginosa
Syndactyly A synostosis that results_in the fusion of two or more digits.
Sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Krause-Kivlin syndrome Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism.
Heart Rupture, Post-Infarction
MERRF Syndrome OMIM mapping confirmed by DO. [SN].
Bpes With Duane Retraction Syndrome
Muscular Dystrophy, Emery-Dreifuss
Hamartoma Syndrome, Multiple
Pulmonary Eosinophilia
Leber Congenital Amaurosis 10
Polycystic Kidney, Autosomal Recessive
Mercury Poisoning
Bare Lymphocyte Syndrome, Type I OMIM mapping confirmed by DO. [SN].
MENTAL HEALTH WELLNESS 1
Flavivirus Infections
Testicular Neoplasms
Encephalomyelitis, Autoimmune, Experimental An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)
Peritoneal Fibrosis
Helicobacter Infections
Creatine deficiency, X-linked
Streptococcal Infections
VESICOURETERAL REFLUX 3
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3
Gitelman Syndrome OMIM mapping confirmed by DO. [SN].
Mitochondrial Complex III Deficiency
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction
Vasculitis, Central Nervous System
Cri-du-Chat Syndrome OMIM mapping confirmed by DO. [SN].
Leydig Cell Hypoplasia
Neuroacanthocytosis
Neutrophil Chemotactic Response, Abnormal
Osteopetrosis with renal tubular acidosis Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Spinocerebellar Ataxia, Autosomal Recessive 9
Spinocerebellar Ataxia, Autosomal Recessive 8
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
Fetal Growth Retardation slow or limited development during the fetal period (sensu Mus: from E14 through birth)
Coffin-Siris syndrome A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.
PROPROTEIN CONVERTASE 1/3 DEFICIENCY
Porphyria Cutanea Tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Amish Infantile Epilepsy Syndrome
Histiocytoma, Benign Fibrous
Febrile Convulsions, Familial, 2
Idiopathic dilation cardiomyopathy
Common Cold An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
Jacobsen Distal 11q Deletion Syndrome
Rheumatoid Arthritis, Systemic Juvenile
De Lange Syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Respiration Disorders
Mulibrey Nanism OMIM mapping confirmed by DO. [SN].
Meckel syndrome type 2
Spastic paraplegia 10, autosomal dominant
Echo Virus 11 Sensitivity
Hyalinosis, Systemic
Keratoconus 2
Hypopituitarism and septooptic 'dysplasia'
Chromosome 2q37 deletion syndrome
GALLBLADDER DISEASE 1
Diabetes Mellitus, Transient Neonatal, 3
Diabetes Mellitus, Transient Neonatal, 1
dopamine beta hydroxylase deficiency
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3
Dysgeusia
Ehlers-Danlos Syndrome A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
Cell Transformation, Neoplastic
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
Telomeric 22q13 Monosomy Syndrome
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
Paratuberculosis
Renal Artery Obstruction
Pancreatic Neoplasms
Brain Neoplasms
Mental Retardation, X-Linked 20
Mental retardation X-linked syndromic 7
Bulimia Nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
Renal tubular acidosis, distal, autosomal recessive
Mental Retardation, Autosomal Dominant 3
Keratitis
Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 4
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
Parietal Foramina 2
Spastic Paraplegia 44, Autosomal Recessive
Arthritis, Infectious
Arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
Osler-rendu-weber syndrome 3
Ehlers-Danlos syndrome caused by tenascin-X deficiency
Spastic paraplegia 2, X-linked
Acute Disease
Urogenital Abnormalities The presence of any abnormality of the genitourinary system.
Sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
Spastic paraplegia 25, autosomal recessive
Ehlers-Danlos Syndrome, Type VIII
Candidiasis, Vulvovaginal
Migraine, Familial Hemiplegic, 3
Hepatitis
Sciatic Neuropathy PRISM.
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
Status Epilepticus
Schopf-Schulz-Passarge Syndrome
Hypothyroidism, Congenital, Nongoitrous, 2
Taste Disorders
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Dyskinesias
Chloracne
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
Ischemia A vascular disease that is characterized by a restriction in blood supply to tissues.
Pituitary ACTH Hypersecretion
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
Craniopharyngioma
Malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
Cancer, Familial, with In Vitro Radioresistance
Ileus
Thyroid cancer, Hurthle cell
Granuloma
Apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Neuronopathy, Distal Hereditary Motor, Type IIB
T-Lymphocytopenia An abnormally low count of T cells.
Parkinson Disease 3, Autosomal Dominant Lewy Body
Renal hypouricemia
Amyotrophic Lateral Sclerosis 4, Juvenile A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
Situs Inversus OMIM mapping confirmed by DO. [LS].
Weight Gain
Simpson-Golabi-Behmel Syndrome, Type 2
Burns, Chemical
Brain Small Vessel Disease with Hemorrhage
Epileptic encephalopathy, Lennox-Gastaut type
Li-Fraumeni Syndrome 3
Scapuloperoneal Myopathy, X-Linked Dominant
Growth mental deficiency syndrome of Myhre
Leukemia, Megakaryoblastic, of Down Syndrome
Hearing Disorders
Rosselli-Gulienetti Syndrome Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly.
Aplasia of Lacrimal and Salivary Glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Mesothelioma, Malignant
Split-Hand/Foot Malformation With Long Bone Deficiency 2
Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Congenital, Compton-North
Seminoma A germinoma that has_material_basis_in cells that make sperm and eggs.
Ornithine Carbamoyltransferase Deficiency Disease
Seborrhea-Like Dermatitis with Psoriasiform Elements
Albinism, Oculocutaneous
Synpolydactyly 1
Prune Belly Syndrome
Paraparesis, Spastic
Heterotaxy, visceral, X-linked
Dysequilibrium syndrome
Fraser Syndrome
Carcinoma, Merkel Cell
Angioma serpiginosum, X-linked
Leishmaniasis A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
Polycystic Kidney, Autosomal Dominant
Mental Retardation, X-Linked 17
Leber Congenital Amaurosis 3
Protein Deficiency
Gliosis The presence of gliosis in the central nervous system.
Ciliary Dyskinesia, Primary, 7
Optic Nerve Hypoplasia, Bilateral
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
Phencyclidine Abuse A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
Glycogen Storage Disease, Type IXD Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
Mouth Diseases
Renpenning syndrome 1
Exudative Vitreoretinopathy 3
Short QT Syndrome 1
Short QT Syndrome 3
Short QT Syndrome 2
Thymus Neoplasms
Methylmalonic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Joubert Syndrome 10
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infarction, Middle Cerebral Artery
Factor 8 deficiency, acquired
Febrile Convulsions, Familial, 5
Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 1
3-methylcrotonyl CoA carboxylase 2 deficiency
Hypoparathyroidism familial isolated
Ehlers-Danlos syndrome type 6
Odontoonychodermal dysplasia
Rhabdomyosarcoma, Embryonal
Finnish lethal neonatal metabolic syndrome
Congenital Disorder of Glycosylation, Type Io Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy.
Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
Hyperlipoproteinemias
Retinitis Pigmentosa 29
Hepatitis B, Chronic
Gonadal Dysgenesis, 46,XX
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
Cysts
Coronary Occlusion
Hypercalciuria
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
Reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Atherosclerosis
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
Weill-Marchesani Syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.
Usher syndrome, type 1B
Endomyocardial Fibrosis
Wernicke Encephalopathy
Aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
Usher syndrome, type 1D
GLYCOGEN STORAGE DISEASE IXa1
Atrophy
Hypomagnesemia 5, Renal, with Ocular Involvement
Ichthyosis Bullosa of Siemens Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
Megalencephaly Enlargement of all or parts of the cerebral hemispheres.
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Bleeding Disorder, East Texas Type
Muscular Atrophy
Trismus Limitation in the ability to open the mouth.
Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
Sneezing The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.
Dystonia 15, myoclonic
Candidiasis, Oral
Nail Diseases
MACULAR DYSTROPHY, RETINAL, 3
Autoimmune Lymphoproliferative Syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
Neurofibroma, Plexiform
HETEROTAXY, VISCERAL, 5, AUTOSOMAL
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
Amenorrhea
CATSHL syndrome
Pallidopyramidal syndrome
Acidemia, isovaleric
Heart Valve Diseases
Hernia, Umbilical
Sacroiliitis
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Ovarian Diseases
Neurofibrosarcoma
Giant Cell Tumor of Bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
Isaacs Syndrome A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement.
VACTERL association with hydrocephaly, X-linked
Pancreatic Carcinoma A pancreas cancer that derives_from epithelial cells located_in the pancreas.
Lymphoma, AIDS-Related
Meningitis, Cryptococcal
Focal Segmental Glomerulosclerosis 2
AIDS-related Kaposi sarcoma
Microphthalmia, syndromic 1
Fructose Intolerance
Osseous Heteroplasia, Progressive
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4
Dermatomyositis A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
Serum Sickness
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
Brunner Syndrome
Tumoral Calcinosis, Hyperphosphatemic, Familial
Leukemia, Myelomonocytic, Acute
Intrahepatic Cholestasis of Pregnancy Xref MGI.
Alopecia, Androgenetic, 2
Farber Lipogranulomatosis OMIM mapping confirmed by DO. [SN].
Diabetic Neuropathies
Cartilage Diseases
Lactose Intolerance, Adult Type
Spondylometaphyseal dysplasia, Kozlowski type
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Ciliary Dyskinesia, Primary, 8
Hyperphenylalaninemia, BH4-Deficient, B
Esophagitis
Polycystic Ovary Syndrome OMIM mapping confirmed by DO. [SN].
Leukemia, Erythroblastic, Acute
Pseudohypoparathyroidism OMIM mapping confirmed by DO. [SN].
Kenny-Caffey syndrome, Type 1
Epidermodysplasia Verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
Glycogen Storage Disease XII
Hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Nerve Sheath Neoplasms
Myopathy, X-Linked, With Postural Muscle Atrophy
Cystitis
Coronary Restenosis
Cutis Laxa, Autosomal Recessive, Type IIA
Hay-Wells syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Anisometropia
Cutis Laxa, Autosomal Recessive, Type IIB
Thyroid Carcinoma, Anaplastic
Oliguria Low output of urine, clinically classified as an output below 300-500ml/day.
Synesthesia
Obesity, Abdominal
Thiopurine S methyltranferase deficiency
Legionnaires' Disease A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Glucose Intolerance
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Calcification of Joints and Arteries
Supranuclear Palsy, Progressive, 2
Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Neoplasms, Unknown Primary
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Supranuclear Palsy, Progressive, 3
Bothnia Retinal Dystrophy OMIM mapping confirmed by DO. [SN].
Pyloric Stenosis, Infantile Hypertrophic, 4
X-linked mental retardation Gustavson type
CHOANAL ATRESIA AND LYMPHEDEMA
Microphthalmia, Isolated, with Coloboma 2
Colitis, Ischemic
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Dyslipidemias
Hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
Pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
Marijuana Abuse A substance abuse that involves the recurring use of cannabis despite negative consequences.
Porphyria, Acute Intermittent
Polymicrogyria With Optic Nerve Hypoplasia
Glaucoma 1, Open Angle, J
LIG4 Syndrome A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
Mandibular Neoplasms
Leukocytosis An abnormal increase in the number of leukocytes in the blood.
Hepatorenal form of glycogen storage disease
Photosensitivity Disorders
Congenital central hypoventilation syndrome disease cluster belonging to disease group developmental
Angina, Unstable
Enterocolitis An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
Spastic paraplegia 15, autosomal recessive
Pyloric Stenosis, Infantile Hypertrophic, 2
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
Steatocystoma Multiplex Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).
Schindler Disease, Type I
Isolated Growth Hormone Deficiency, Type IB
Histiocytosis A lymphatic system disease that is characterized by an excessive number of histiocytes.
Deafness, Autosomal Dominant 53
Jansen type metaphyseal chondrodysplasia
Vitamin A Deficiency
Somnambulism
Molybdenum cofactor deficiency Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type In
Diabetes Mellitus, Insulin-Dependent, 22
Diabetes Complications
Diabetes Mellitus, Insulin-Dependent, 20
Cholestasis
Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Scimitar Syndrome
Postoperative Hemorrhage
Pulmonary Veno-Occlusive Disease OMIM mapping confirmed by DO. [SN].
Vulvar Neoplasms
Osteoporosis, Postmenopausal Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
OVARIAN DYSGENESIS 1
Split-Hand/Foot Malformation With Long Bone Deficiency 3
Simpson-Golabi-Behmel syndrome An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
Long QT Syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
Diabetes, Gestational
Maxillofacial Abnormalities
Miosis Abnormal (non-physiological) constriction of the pupil.
Amyotrophic Lateral Sclerosis 3 A type of ALS with loci associated with the disease located_in chromosome 18.
Coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Amyotrophic Lateral Sclerosis 7 A type of ALS with loci associated with the disease located_in chromosome 20.
Amyotrophic Lateral Sclerosis 8 A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
Amyotrophic Lateral Sclerosis 9 A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
Phosphoglycerate Kinase 1 Deficiency
Cataract, Congenital Zonular, with Sutural Opacities
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
Lissencephaly 3
Weyers acrofacial dysostosis Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence.
HYPOTRICHOSIS 2
Endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye.
Arthrogryposis, Distal, Type 4
Cocaine-Related Disorders
Otosclerosis 3
Peroxisome biogenesis disorders
Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Mycoses
Paraphilias
Hereditary Motor And Sensory Neuropathy, Type IIC
Sinoatrial Block Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.
Retinal Degeneration
Myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
HID Syndrome
Craniofacial deafness hand syndrome
Hyperhidrosis Abnormal excessive perspiration (sweating).
Atrial Fibrillation, Familial, 3
Melanoma, Experimental
Hyperkinesis Motor hyperactivity with excessive movement of muscles of the body as a whole.
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3
Charcot-Marie-Tooth disease, Type 4A Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
DiGeorge Syndrome A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4
Radiation induced meningioma
Asthma, Nasal Polyps, And Aspirin Intolerance
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1
Neoplasms, Germ Cell and Embryonal
Huntington Disease-Like 3
SPATIAL VISUALIZATION, APTITUDE FOR
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Kidney Failure, Chronic
Myeloproliferative Disorders
Meckel syndrome type 3
Puberty, Precocious
Meckel syndrome type 1
Pancreatitis, Chronic
Facial Dermatoses
Cerebral Palsy, Ataxic, Autosomal Recessive
Lethal congenital contracture syndrome 1
Jervell-Lange Nielsen Syndrome OMIM mapping confirmed by DO. [SN].
Deafness, Autosomal Dominant 49
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Achondrogenesis type 1B Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Hereditary Motor And Sensory Neuropathy VI
Disorders of Excessive Somnolence
Refsum Disease OMIM mapping confirmed by DO. [SN].
Ileal Diseases
Trichilemmal Cyst 1
Sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
Retinal Vein Occlusion
Synpolydactyly 3
Schmid-Fraccaro syndrome
Athabaskan brainstem dysgenesis
Phyllodes Tumor of the Prostate
Epilepsy, Female-Restricted, with Mental Retardation
Cutis Gyrata Syndrome of Beare And Stevenson
Aland Island Eye Disease
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Chondrodysplasia Punctata, Rhizomelic
Lujan Fryns syndrome The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Leukoencephalopathies
Papilloma, Choroid Plexus
Cone-Rod Dystrophy, X-Linked, 2
Cone-Rod Dystrophy, X-Linked, 3
Achromatopsia 2
Achromatopsia 3
Microcoria, congenital
Anemia, Megaloblastic
Lung Neoplasms
Purine-Pyrimidine Metabolism, Inborn Errors
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
Hypersensitivity, Delayed
Cortical Dysplasia-Focal Epilepsy Syndrome
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
Temporomandibular Joint Disorders
Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
Purpura, Thrombocytopenic, Idiopathic
DEAFNESS, AUTOSOMAL RECESSIVE 18A
Pontocerebellar Hypoplasia Type 2C NT MGI.
Pontocerebellar Hypoplasia Type 2B NT MGI.
Bowen's Disease
Hodgkin Disease A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Carcinoma, Non-Small-Cell Lung
Azoospermia, Nonobstructive
Ring dermoid of cornea
Mental Retardation, X-Linked 81
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Wounds and Injuries
Glaucoma 1, Open Angle, N
Hereditary Angioedema Type III
Aneurysm, intracranial berry, 2
Epidermolysis Bullosa Simplex With Pyloric Atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Carney Complex Variant
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Papillorenal syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Intestinal Obstruction
Renal Insufficiency
Vaginal Diseases
Apraxia, oculomotor, Cogan type
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Cryptorchidism OMIM mapping confirmed by DO. [SN].
Carcinoma, Ductal, Breast
Cerebral Palsy, Spastic Quadriplegic, 2
Lymphatic Diseases
Hyperlipoproteinemia Type III
Drug-Induced Liver Injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Malabsorption Syndromes
Anemia, Hemolytic, Congenital
Churg-Strauss Syndrome A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Fibroadenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Barakat syndrome
CATARACT 6, MULTIPLE TYPES
Autoimmune Diseases of the Nervous System
DEAFNESS, AUTOSOMAL RECESSIVE 74
Gastritis A stomach disease that is an inflammation of the lining of the stomach.
Substance-Related Disorders
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Asthma, Aspirin-Induced
Basal Ganglia Diseases
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
Chlamydia Infections
Rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
Schizophrenia and Disorders with Psychotic Features
Intrahepatic cholangiocarcinoma
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Saethre-Chotzen Syndrome with Eyelid Anomalies
Plasminogen Activator Inhibitor-1 Deficiency
Subarachnoid Hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater.
Costeff optic atrophy syndrome
Sleep Initiation and Maintenance Disorders
Dermatitis, Atopic
Death
Pleural Effusion The presence of an excessive amount of fluid in the pleural cavity.
Exocrine Pancreatic Insufficiency
Niemann-Pick Disease, Type C OMIM mapping confirmed by DO. [SN].
Thyroid cancer, medullary
Testicular Germ Cell Tumor 1
Episodic Muscle Weakness, X-Linked
Multiple Endocrine Neoplasia
Lameness, Animal
Feminization
Anemia, Sideroblastic An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
Self Mutilation
Aneurysm, Dissecting
Hyperandrogenism
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
Hidradenitis suppurativa, familial
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Sertoli cell-only syndrome, Y-linked
Pyruvate Dehydrogenase E2 Deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Inflammatory Bowel Disease 2
Leukemia, Monocytic, Acute
Gastrointestinal Neoplasms
Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Phosphoglycerate Dehydrogenase Deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
Urofacial syndrome An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Vascular Calcification Abnormal calcification of the vasculature.
Methylmalonic Aciduria and Homocystinuria, CblF Type
Peripheral Nervous System Diseases
Mental retardation, X-linked 14
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Mediastinal Neoplasms
Vitamin D Deficiency
Bile acid synthesis defect, congenital, 2
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3
Testicular Diseases
Paraquat lung
Pulmonary Fibrosis
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
Polydipsia Excessive thirst manifested by excessive fluid intake.
Factor V Deficiency OMIM mapping confirmed by DO. [SN].
Bile acid synthesis defect, congenital, 4
Diabetes Mellitus, Transient Neonatal, 2
Bronchiolitis Obliterans A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Cataract and cardiomyopathy
Pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust.
Pierson syndrome
Pallister-Hall Syndrome OMIM mapping confirmed by DO. [SN].
Epilepsy, Progressive Myoclonic, 1b
Fetal Weight
Somatosensory Disorders
Polycythemia Vera OMIM mapping confirmed by DO. [SN].
Wolf-Hirschhorn Syndrome OMIM mapping confirmed by DO. [LS].
Dementia, familial Danish
Fucosidosis OMIM mapping confirmed by DO. [SN].
Melkersson-Rosenthal Syndrome OMIM mapping confirmed by DO. [SN].
Aortic Aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
Acrodermatitis
Familial medullary thyroid carcinoma OMIM mapping confirmed by DO. [SN].
Alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Arthritis, Juvenile disease cluster belonging to disease group immune
Meningomyelocele
Epilepsy, Rolandic
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Asperger Syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Pyruvate Dehydrogenase Complex Deficiency Disease A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
Bipolar Disorder A mood disorder that involves alternating periods of mania and depression.
Retinitis Pigmentosa 18
Hyperoxaluria Increased excretion of oxalates in the urine.
46,XX SEX REVERSAL 1
Ciliary Motility Disorders
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spastic Paraplegia 39, Autosomal Recessive
Deafness, Autosomal Recessive 30
ALCOHOL SENSITIVITY, ACUTE
Cone Dystrophy 4
Bloom Syndrome OMIM mapping confirmed by DO. [SN].
Psychophysiologic Disorders
Ataxia with vitamin E deficiency Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
LYMPHEDEMA, HEREDITARY, IC
Laron syndrome type 2
Bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Aortic Valve Insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Restless Legs Syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
Mitral Valve Insufficiency
Deglutition Disorders
Alzheimer Disease 13
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
Mucopolysaccharidosis VII A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Interstitial Pneumonitis, Desquamative, Familial
Nerve Degeneration
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Liposarcoma, Myxoid
Mastocytosis OMIM mapping confirmed by DO. [LS].
Corneal endothelial dystrophy type 2
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
Liver Cirrhosis, Biliary
Brain Damage, Chronic
TRIGONOCEPHALY 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7
Frontotemporal Dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Oligospermia
Bile Acid Malabsorption, Primary
Senior-Loken syndrome 4
Anemia, Sickle Cell
Mental retardation-hypotonic facies syndrome, x-linked, 1
Night Blindness
Disorders of Environmental Origin
Aromatic amino acid decarboxylase deficiency
Pena Shokeir syndrome, type 1
Cranial Nerve Diseases
Holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Mycoplasma Infections
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Granuloma, Plasma Cell
Alpha-B Crystallinopathy
Wilms Tumor 4
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
CONE-ROD DYSTROPHY 9
Hemophagocytic lymphohistiocytosis, familial, 4
Heterotaxy, Visceral, 3, Autosomal
Atrichia with Papular Lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
Wilms Tumor 3
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
CONE-ROD DYSTROPHY 2
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
Cayler cardiofacial syndrome
Factor X Deficiency
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
Medullary Cystic Kidney Disease 2
No-Reflow Phenomenon
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1
Dermatitis, Occupational
Carcinoma, Squamous Cell
Mental Retardation, X-Linked, Syndromic, Christianson Type
Holocarboxylase Synthetase Deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Muscular Dystrophy, Congenital, 1B
Respiratory Tract Diseases
Hemangiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
Thyroid Hormone Metabolism, Abnormal
Spastic paraplegia 9, autosomal dominant
Glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
Venous Thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Myositis A myopathy characterized by muscle inflammation.
Neuropathy, hereditary motor and sensory, Okinawa type
Sinus Thrombosis, Intracranial
Dupuytren Contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
Gastroesophageal Reflux OMIM mapping confirmed by DO. [SN].
Alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Proteinuria
Insulin-Like Growth Factor I, Resistance To
Hydrolethalus syndrome An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Thyroid Dyshormonogenesis 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
Thyroid Dyshormonogenesis 4
Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6
Acute Kidney Injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Cowden-Like Syndrome
Glucose-Galactose Malabsorption
Adrenal Cortex Diseases
Unconsciousness
Hoyeraal Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Mitochondrial Myopathies
SPONDYLOPERIPHERAL DYSPLASIA
Hyperkalemia An abnormally increased potassium concentration in the blood.
Exfoliation Syndrome OMIM mapping confirmed by DO. [SN].
Rhabdomyosarcoma 1
N-acetyl glutamate synthetase deficiency
Severe Acute Respiratory Syndrome A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
Intracranial Arteriovenous Malformations
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Carpal Tunnel Syndrome OMIM mapping confirmed by DO. [SN].
Delayed Emergence from Anesthesia
Optic atrophy polyneuropathy deafness
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Maturity-Onset Diabetes Of The Young, Type 9
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Balkan Nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
Yellow Nail Syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
Anxiety, Separation
Mental Retardation, X-Linked 84
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
Muscular Dystrophies
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Leber Congenital Amaurosis 14
Lipoblastoma
Granulomatosis with Polyangiitis
Capgras Syndrome A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
Kidney Cortex Necrosis
Dimethylglycine Dehydrogenase Deficiency Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 2
Spermatocele
Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Mental retardation, X-linked, syndromic 5
Hyperprolinemia An increased concentration of proline in the blood.
Noonan Syndrome 5
Noonan Syndrome 4
PEROXISOME BIOGENESIS DISORDER 2B
Noonan Syndrome 6
Nephrotic Syndrome Xref MGI.
Cirrhosis, Familial
von Willebrand Disease, Type 3
LOEYS-DIETZ SYNDROME 2
Hennekam lymphangiectasia lymphedema syndrome
Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
Schwannomatosis
Hemangioma, capillary infantile
Amelogenesis Imperfecta, Type IB
Demyelinating Diseases
Wilms Tumor
Absence of Tibia Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Spastic Paraplegia 37, Autosomal Dominant
Trehalase Deficiency
Intervertebral Disc Displacement
Guanidinoacetate methyltransferase deficiency
Netherton Syndrome OMIM mapping confirmed by DO. [SN].
Crigler Najjar syndrome, type 2 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms).
Metaplasia
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
ADRENAL HYPOPLASIA, CONGENITAL
Zygodactyly 1
Cardiomyopathy, Dilated, 2a
Aminoacylase 1 deficiency
CADASIL
Familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
Deafness, Autosomal Recessive 28
Antithrombin III Deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
Bartter Syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Hypopigmentation A reduction of skin color related to a decrease in melanin production and deposition.
Muscular Dystrophy, Limb-Girdle, Type 2L
Arterial Occlusive Diseases
Neoplasms, Hormone-Dependent
Senior Loken Syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Erythema Nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Pierre Robin Syndrome
Ventricular Outflow Obstruction
Rhabdomyosarcoma, Alveolar
RETINITIS PIGMENTOSA 50
ARTHROGRYPOSIS, DISTAL, TYPE 1A
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
Colonic Polyps abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13
Marfan Syndrome OMIM mapping confirmed by DO. [SN].
Speech Disorders
Osteopetrosis autosomal dominant type 1
Adrenal Insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Porencephaly NT MGI.
Primary Ovarian Insufficiency, Fragile X-Associated
Congenital disorder of glycosylation type 1H
Doyne honeycomb retinal dystrophy
Hereditary Autoinflammatory Diseases
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
Anterior segment mesenchymal dysgenesis