stuppie
commented
6 years ago | doid | do_label | do_def | mesh | mesh_label | mesh_descr | qid | wd_label | |
|---|---|---|---|---|---|---|---|---|
| 104 | DOID:0080053 | Albright's hereditary osteodystrophy | An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. | C537045 | Albright's hereditary osteodystrophy | [] | Q4712685 | Albright's hereditary osteodystrophy |
| 105 | DOID:10247 | pleurisy | A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. | D010998 | Pleurisy | INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN. | Q55998 | pleurisy |
| 106 | DOID:0050117 | disease by infectious agent | A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. | D003141 | Communicable Diseases | An illness caused by an infectious agent or its toxins that occurs through the direct or indirect transmission of the infectious agent or its products from an infected individual or via an animal, vector or the inanimate environment to a susceptible animal or human host. | Q18123741 | infectious disease |
| 107 | DOID:0090061 | familial cold autoinflammatory syndrome | A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. | D056587 | Cryopyrin-Associated Periodic Syndromes | A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations. | Q1835481 | Familial cold urticaria |
| 108 | DOID:4399 | acneiform dermatitis | D017486 | Acneiform Eruptions | Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575) | Q2365426 | Acneiform eruption | |
| 109 | DOID:0050580 | hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. | D008209 | Lymphedema | Edema due to obstruction of lymph vessels or disorders of the lymph nodes. | Q1996246 | hereditary lymphedema |
| 110 | DOID:0060887 | ossification of the posterior longitudinal ligament of spine | A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. | D017887 | Ossification of Posterior Longitudinal Ligament | A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. It is often associated with anterior ankylosing hyperostosis. | Q30314263 | Ossification of the posterior longitudinal ligament |
| 111 | DOID:0090001 | Fraser syndrome | An autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. | D058497 | Fraser Syndrome | Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. | Q1425572 | Fraser syndrome |
| 113 | DOID:0060888 | transient myeloproliferative syndrome | A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants. | C563551 | Myeloproliferative Syndrome, Transient | [] | Q32136782 | transient myeloproliferative syndrome |
| 114 | DOID:0060878 | hypoparathyroidism-deafness-renal disease syndrome | A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. | C537907 | Barakat syndrome | [] | Q2027515 | hypoparathyroidism-deafness-renal disease syndrome |
| 115 | DOID:0050661 | vitelliform macular dystrophy | A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. | D057826 | Vitelliform Macular Dystrophy | Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel. | Q830265 | vitelliform macular dystrophy |
| 116 | DOID:3418 | glossopharyngeal nerve disease | D020435 | Glossopharyngeal Nerve Diseases | Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) | Q18555926 | glossopharyngeal nerve disease | |
| 117 | DOID:1555 | urticaria | A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. | D014581 | Urticaria | A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. | Q187440 | urticaria |
| 118 | DOID:0050631 | Allan-Herndon-Dudley syndrome | An X-linked disease that has material basis in mutation at is 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. | C537047 | Allan-Herndon-Dudley syndrome | [] | Q4731121 | Allan-Herndon-Dudley syndrome |
| 119 | DOID:0050843 | oromandibular dystonia | A focal dystonia that is characterized by distortions of the mouth and tongue. | D009069 | Movement Disorders | Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. | Q73828 | oromandibular dystonia |
| 120 | DOID:0080019 | metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. | C536252 | Pyle disease | [] | Q13566985 | metaphyseal dysplasia |
| 121 | DOID:0050150 | Pontiac fever | A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. | D007876 | Legionellosis | Infections with bacteria of the genus LEGIONELLA. | Q3073142 | Pontiac fever |
| 122 | DOID:6088 | acute stress disorder | An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. | D040701 | Stress Disorders, Traumatic, Acute | A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder (STRESS DISORDERS, POST-TRAUMATIC) is more appropriate. | Q424221 | acute stress disorder |
| 123 | DOID:6088 | acute stress disorder | An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. | D000210 | Acute-Phase Reaction | An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma. | Q424221 | acute stress disorder |
| 124 | DOID:0090104 | Huntington disease-like 2 | A neurodegenerative disease characterized by autosomal dominant inheritance of a involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset that has material_basis_in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene on chromosome 16q24. | C564708 | Huntington Disease-Like 2 | [] | Q30990046 | Huntington disease-like 2 |
| 125 | DOID:0080153 | medium chain acyl-CoA dehydrogenase deficiency | A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. | C536038 | Medium chain acyl CoA dehydrogenase deficiency | [] | Q750826 | medium chain acyl-CoA dehydrogenase deficiency |
| 126 | DOID:0050685 | small cell carcinoma | A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. | D018288 | Carcinoma, Small Cell | An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7) | Q738170 | small cell carcinoma |
| 127 | DOID:0050869 | villous adenoma | D018253 | Adenoma, Villous | An adenoma of the large intestine. It is usually a solitary, sessile, often large, tumor of colonic mucosa composed of mucinous epithelium covering delicate vascular projections. Hypersecretion and malignant changes occur frequently. (Stedman, 25th ed) | Q7931125 | villous adenoma | |
| 128 | DOID:0060434 | chromosome 17q21.31 duplication syndrome | C536578 | Chromosome 17, trisomy 17p11 2 | [] | Q7234988 | chromosome 17q21.31 duplication syndrome | |
| 129 | DOID:0050909 | MALT lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. | D018442 | Lymphoma, B-Cell, Marginal Zone | Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder. | Q591256 | MALT lymphoma |
| 130 | DOID:0050722 | PHGDH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. | C566618 | Phosphoglycerate Dehydrogenase Deficiency | [] | Q18553426 | PHGDH deficiency |
| 131 | DOID:0050684 | Bowen-Conradi syndrome | C537081 | Bowen-Conradi syndrome | [] | Q18553398 | Bowen-Conradi syndrome | |
| 132 | DOID:0050644 | 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. | C537440 | Arterial calcification of infancy | [] | Q9366868 | arterial calcification of infancy |
| 133 | DOID:11162 | respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. | D012133 | Respiratory Paralysis | Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders. | Q767485 | respiratory failure |
| 134 | DOID:0050810 | biotin deficiency | A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. | C531633 | Biotin deficiency | [] | Q10264745 | biotin deficiency |
| 135 | DOID:0080141 | mosaic variegated aneuploidy syndrome 1 | C536987 | Mosaic variegated aneuploidy syndrome | [] | Q26492834 | mosaic variegated aneuploidy syndrome 1 | |
| 136 | DOID:0060046 | aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. | D001037 | Aphasia | A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia. | Q2836 | aphasia |
| 137 | DOID:0090067 | Fuhrmann syndrome | A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. | C538189 | Fuhrmann syndrome | [] | Q18411838 | Fuhrmann syndrome |
| 138 | DOID:0060040 | pervasive developmental disorder | A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. | D002659 | Child Development Disorders, Pervasive | Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. | Q6691991 | pervasive developmental disorder |
| 139 | DOID:0060645 | chronic recurrent multifocal osteomyelitis | An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. | C535456 | Chronic recurrent multifocal osteomyelitis | [] | Q2787011 | Chronic recurrent multifocal osteomyelitis |
| 140 | DOID:10919 | transsexualism | A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. | D014189 | Transsexualism | Expression of a GENDER IDENTITY inconsistent with, or not culturally-associated with the gender assigned to an individual at birth, combined with the desire to permanently transition to the gender with which they identify. | Q190965 | transsexualism |
| 141 | DOID:0050155 | sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). | D012678 | Sensation Disorders | Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM). | Q18553219 | sensory system disease |
| 143 | DOID:0050576 | 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. | C537580 | Senior Loken Syndrome | [] | Q4354267 | Senior-Loken syndrome |
| 144 | DOID:0080070 | inclusion-cell disease | D009081 | Mucolipidoses | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) | Q1516888 | inclusion-cell disease | |
| 145 | DOID:0060309 | syndromic X-linked intellectual disability | A syndromic intellectual characterized by an X-linked inheritance pattern. | D038901 | Mental Retardation, X-Linked | A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). | Q8041560 | X-linked mental retardation |
| 146 | DOID:5570 | malignant acrospiroma | D018250 | Acrospiroma | A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. | Q6743502 | malignant acrospiroma | |
| 147 | DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. | D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. | Q727096 | congenital disorder |
| 148 | DOID:0080082 | nonsyndromic congenital nail disorder 4 | C536377 | Anonychia congenita | [] | Q18553374 | nonsyndromic congenital nail disorder 4 | |
| 149 | DOID:0050645 | arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. | C565942 | Arterial Tortuosity Syndrome | [] | Q4216194 | arterial tortuosity syndrome |
| 150 | DOID:0090047 | paroxysmal nonkinesigenic dyskinesia 2 | A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in variation in the chromosome region 2q31. | C537181 | Paroxysmal nonkinesigenic dyskinesia | [] | Q3042114 | paroxysmal nonkinesigenic dyskinesia 2 |
| 151 | DOID:0050603 | acheiropody | C536014 | Acheiropodia | [] | Q4673593 | acheiropody | |
| 153 | DOID:0060168 | histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. | C538320 | Histidinemia | [] | Q725845 | histidinemia |
| 154 | DOID:0090060 | Wolcott-Rallison syndrome | A characterized by autosomal recessive inheritance of permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the EIF2AK3 gene on chromosome 2p11.2. | C536739 | Wolcott-Rallison syndrome | [] | Q8029730 | Wolcott-Rallison syndrome |
| 155 | DOID:1829 | urethral stricture | D014525 | Urethral Stricture | Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. | Q1585753 | urethral stricture | |
| 156 | DOID:0050997 | cerebellar ataxia, mental retardation and dysequlibrium syndrome | An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. | C535731 | Dysequilibrium syndrome | [] | Q4052543 | cerebellar ataxia, mental retardation and dysequlibrium syndrome |
| 157 | DOID:0060745 | Doyne honeycomb retinal dystrophy | A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. | C535602 | Doyne honeycomb retinal dystrophy | [] | Q28065548 | Doyne honeycomb retinal dystrophy |
| 158 | DOID:0080195 | Marinesco-Sjogren syndrome | An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. | D013132 | Spinocerebellar Degenerations | A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. | Q2628677 | Marinesco–Sjögren syndrome |
| 159 | DOID:0050635 | alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. | C536589 | Alternating hemiplegia of childhood | [] | Q2632848 | alternating hemiplegia of childhood |
| 160 | DOID:0050734 | congenital intrinsic factor deficiency | A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. | C563242 | Intrinsic Factor Deficiency | [] | Q18553437 | congenital intrinsic factor deficiency |
| 161 | DOID:0050290 | trichosporonosis | An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. | D060586 | Trichosporonosis | Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. | Q7841014 | trichosporonosis |
| 162 | DOID:0060532 | latex allergy | A hypersensitivity reaction type I disease triggered by latex. | D020315 | Latex Hypersensitivity | Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (HYPERSENSITIVITY, DELAYED) and IgE antibody-mediated (HYPERSENSITIVITY, IMMEDIATE) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. | Q1754830 | latex allergy |
| 163 | DOID:4817 | ganglioneuroma | D005729 | Ganglioneuroma | A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966) | Q1124606 | ganglioneuroma | |
| 164 | DOID:0080031 | fibrous dysplasia | A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. | D005357 | Fibrous Dysplasia of Bone | A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). | Q1410864 | fibrous dysplasia |
| 165 | DOID:1936 | atherosclerosis | D058226 | Plaque, Atherosclerotic | Lesions formed within the walls of ARTERIES. | Q12252367 | atherosclerosis | |
| 166 | DOID:0050672 | dyskinetic cerebral palsy | A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. | D002547 | Cerebral Palsy | A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7) | Q4813631 | dyskinetic cerebral palsy |
| 167 | DOID:0050720 | ornithine translocase deficiency | An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. | C538380 | HHH syndrome | [] | Q7103627 | ornithine translocase deficiency |
| 168 | DOID:0050658 | Bart-Pumphrey syndrome | C537210 | Knuckle pads, leuconychia and sensorineural deafness | [] | Q4865826 | Bart-Pumphrey syndrome | |
| 169 | DOID:0080021 | Schmid metaphyseal chondrodysplasia | A metaphyseal dysplasia that results_in dwarfism and bowed legs. | C537352 | Metaphyseal chondrodysplasia Schmid type | [] | Q2964434 | Schmid metaphyseal chondrodysplasia |
| 170 | DOID:0060056 | hypersensitivity reaction disease | An immune system disease that has material basis in abnormal immune responses. | D006967 | Hypersensitivity | Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. | Q5958765 | hypersensitivity |
| 171 | DOID:0060023 | CD40 deficiency | A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. | D053306 | Hyper-IgM Immunodeficiency Syndrome | A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. | Q5957519 | CD40 deficiency |
| 172 | DOID:0050134 | cutaneous mycosis | A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. | D003881 | Dermatomycoses | Superficial infections of the skin or its appendages by any of various fungi. | Q18553212 | cutaneous mycosis |
| 173 | DOID:0050524 | maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. | D003924 | Diabetes Mellitus, Type 2 | A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY. | Q663041 | maturity-onset diabetes of the young |
| 174 | DOID:0050740 | Qazi Markouizos syndrome | A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. | C536259 | Qazi Markouizos syndrome | [] | Q7267327 | Qazi Markouizos syndrome |
| 175 | DOID:0050169 | cutaneous lupus erythematosus | A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. | D008178 | Lupus Erythematosus, Cutaneous | A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID). | Q18553226 | cutaneous lupus erythematosus |
| 176 | DOID:0080020 | Jansen's metaphyseal chondrodysplasia | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. | C537564 | Jansen type metaphyseal chondrodysplasia | [] | Q2964433 | Jansen's metaphyseal chondrodysplasia |
| 177 | DOID:0110792 | hereditary spastic paraplegia 4 | A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. | C536865 | Spastic paraplegia 4, autosomal dominant | [] | Q2308013 | hereditary spastic paraplegia 4 |
| 178 | DOID:0050710 | 3-Methylcrotonyl-CoA carboxylase deficiency | An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. | C535308 | 3-methylcrotonyl CoA carboxylase 1 deficiency | [] | Q4634172 | 3-Methylcrotonyl-CoA carboxylase deficiency |
| 179 | DOID:0050643 | anonychia congenita | C536377 | Anonychia congenita | [] | Q22443772 | anonychia congenita | |
| 180 | DOID:12559 | idiopathic juvenile osteoporosis | An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. | C537700 | Juvenile osteoporosis | [] | Q6318965 | idiopathic juvenile osteoporosis |
| 182 | DOID:0050664 | Bietti crystalline corneoretinal dystrophy | C535440 | Bietti Crystalline Dystrophy | [] | Q4904691 | Bietti crystalline corneoretinal dystrophy | |
| 183 | DOID:0060228 | intracranial berry aneurysm | An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. | D002532 | Intracranial Aneurysm | Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation. | Q6058359 | Intracranial berry aneurysm |
| 184 | DOID:0060773 | cleft lip-palate-ectodermal dysplasia syndrome | An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. | C536726 | Zlotogora-Ogur syndrome | [] | Q28065578 | cleft lip-palate-ectodermal dysplasia syndrome |
| 185 | DOID:0050697 | chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. | D002821 | Chorioamnionitis | INFLAMMATION of the placental membranes (CHORION; AMNION) and connected tissues such as fetal BLOOD VESSELS and UMBILICAL CORD. It is often associated with intrauterine ascending infections during PREGNANCY. | Q2552421 | chorioamnionitis |
| 186 | DOID:0111072 | myostatin-related muscle hypertrophy | A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. | C536106 | Myostatin-related muscle hypertrophy | [] | Q3144217 | myostatin-related muscle hypertrophy |
| 187 | DOID:0050789 | tarsal-carpal coalition syndrome | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. | C536943 | NOG-Related-Symphalangism Spectrum Disorder | [] | Q18553474 | tarsal-carpal coalition syndrome |
| 188 | DOID:10719 | toxic diffuse goiter | D006111 | Graves Disease | A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy). | Q16483 | toxic diffuse goiter | |
| 189 | DOID:0050745 | diffuse large B-cell lymphoma | A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. | D016403 | Lymphoma, Large B-Cell, Diffuse | Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. | Q2626074 | Diffuse large B-cell lymphoma |
| 190 | DOID:0080071 | pseudo-Hurler polydystrophy | D009081 | Mucolipidoses | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) | Q7254411 | pseudo-Hurler polydystrophy | |
| 191 | DOID:0050712 | AGAT deficiency | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. | C567192 | Arginine:Glycine Amidinotransferase Deficiency | [] | Q18553418 | AGAT deficiency |
| 192 | DOID:0060064 | sideroblastic anemia with spinocerebellar ataxia | C536358 | Anemia, sideroblastic spinocerebellar ataxia | [] | Q18965552 | sideroblastic anemia with spinocerebellar ataxia | |
| 193 | DOID:0050535 | exudative vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. | C536382 | Exudative vitreoretinopathy 1 | [] | Q5432936 | exudative vitreoretinopathy |
| 194 | DOID:0050854 | Muckle-Wells syndrome | D056587 | Cryopyrin-Associated Periodic Syndromes | A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations. | Q1538218 | Muckle-Wells syndrome | |
| 195 | DOID:0050775 | schneckenbecken dysplasia | C536637 | Schneckenbecken dysplasia | [] | Q18553466 | schneckenbecken dysplasia | |
| 196 | DOID:0050946 | Charlevoix-Saguenay spastic ataxia | C536787 | Spastic ataxia Charlevoix-Saguenay type | [] | Q2868786 | Charlevoix-Saguenay spastic ataxia | |
| 197 | DOID:0050649 | atransferrinemia | C538259 | Congenital atransferrinemia | [] | Q1437472 | atransferrinemia | |
| 198 | DOID:528 | hydrarthrosis | D006833 | Hydrarthrosis | Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) | Q1499629 | joint effusion | |
| 199 | DOID:0060731 | congenital central hypoventilation syndrome | An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. | D020182 | Sleep Apnea, Central | A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration. | Q979129 | congenital central hypoventilation syndrome |
| 200 | DOID:0050762 | adenylosuccinase lyase deficiency | C538235 | Adenylosuccinate lyase deficiency | [] | Q4682317 | adenylosuccinase lyase deficiency | |
| 201 | DOID:14110 | anus cancer | A large intestine cancer that is located_in the anus. | D001005 | Anus Neoplasms | Tumors or cancer of the ANAL CANAL. | Q484827 | anus cancer |
| 202 | DOID:0050726 | tyrosinemia type I | A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. | D020176 | Tyrosinemias | A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) | Q1747726 | tyrosinemia type I |
| 203 | DOID:0060859 | salmonellosis | A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. | D012478 | Salmonella Food Poisoning | Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. | Q326648 | salmonellosis |
| 204 | DOID:0050711 | aceruloplasminemia | An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. | C536004 | Familial apoceruloplasmin deficiency | [] | Q337604 | aceruloplasminemia |
| 205 | DOID:0050871 | fibroma | D005350 | Fibroma | A benign tumor of fibrous or fully developed connective tissue. | Q4667072 | fibroma | |
| 206 | DOID:0050763 | ARC syndrome | A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. | C535382 | Arthrogryposis renal dysfunction cholestasis syndrome | [] | Q18553459 | ARC syndrome |
| 207 | DOID:0050556 | infantile onset spinocerebellar ataxia | C535523 | Infantile onset spinocerebellar ataxia | [] | Q18553306 | infantile onset spinocerebellar ataxia |
Hi Lynn, Below is a table of MeSH IDs that Wikidata users have added to disease items. This has not been curated except to remove 12 entries where the MeSH ID doesn't exist. I can help go through these.. ?