# Disease(DOID)
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DOID:0050457 | Sertoli cell-only syndrome | null | Germinal Cell Aplasia EXACT [] |
DOID:0050458 | juvenile myelomonocytic leukemia | null | null |
DOID:0050459 | hyperphosphatemia | null | null |
DOID:0050460 | Wolf-Hirschhorn syndrome | null | Pitt-Rogers-Danks Syndrome EXACT [] |
DOID:0050461 | aspartylglucosaminuria | null | GLYCOSYLASPARAGINASE DEFICIENCY EXACT [] |
DOID:0050462 | Antley-Bixler syndrome | An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. [url:http\://en.wikipedia.org/wiki/Antley-Bixler_syndrome] | trapezoidocephaly-synostosis syndrome EXACT [] |
DOID:0050463 | campomelic dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1] | Acampomelic Campomelic Dysplasia EXACT [] |
DOID:0050464 | Farber lipogranulomatosis | null | N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY EXACT [] |
DOID:0050465 | Muir-Torre syndrome | null | null |
DOID:0050466 | Loeys-Dietz syndrome | null | null |
DOID:0050467 | erythrokeratodermia variabilis | null | Greither Disease EXACT [] |
DOID:0050468 | 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. [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract] | null |
DOID:0050469 | Costello syndrome | null | FCS SYNDROME EXACT [] |
DOID:0050470 | Donohue Syndrome | null | Leprechaunism EXACT [] |
DOID:0050471 | Carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex] | NAME Syndrome EXACT [] |
DOID:0050472 | monilethrix | null | null |
DOID:0050473 | Alstrom syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome] | null |
DOID:0050474 | Netherton syndrome | null | null |
DOID:0050475 | Weill-Marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome] | Spherophakia Brachymorphia Syndrome EXACT [] |
DOID:0050476 | Barth syndrome | A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract] | MGA type II EXACT [] |
DOID:0050477 | Liddle syndrome | null | Pseudoaldosteronism EXACT [] |
DOID:0050478 | primary Escherichia coli infectious disease | null | null |
DOID:0050479 | commensal Klebsiella infectious disease | null | Klebsiella infection EXACT [CSP2005:0368-2705] |
DOID:0050480 | epidemic typhus | A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. [url:http\://en.wikipedia.org/wiki/Epidemic_typhus] | sylvatic typhus EXACT [] |
DOID:0050481 | endemic typhus | A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. [url:http\://en.wikipedia.org/wiki/Murine_typhus] | Urban Typhus of Malaya EXACT [] |
DOID:0050482 | lymphangitis-associated rickettsiosis | null | null |
DOID:0050483 | Rickettsia aeschlimannii spotted fever | null | null |
DOID:0050484 | aneruptive fever | A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. [url:http\://jcm.asm.org/cgi/reprint/42/2/816, url:http\://www.cdc.gov/otherspottedfever/index.html] | Rickettsia helvetica spotted fever EXACT [] |
DOID:0050485 | sennetsu fever | A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. [url:http\://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html] | Sennetsu ehrlichiosis EXACT [] |
DOID:0050486 | exanthem | null | Rash EXACT [] |
DOID:0050487 | bacterial exanthem | null | null |
DOID:0050488 | early congenital syphilis | A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html] | null |
DOID:0050489 | multinodular goiter | A goiter characterized by a multinodular enlargement of the thyroid gland. [url:http\://en.wikipedia.org/wiki/Multinodular_goitre] | null |
DOID:0050490 | parenchymatous neurosyphilis | A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] | null |
DOID:0050491 | meningovascular neurosyphilis | A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh] | null |
DOID:0050492 | tertiary syphilitic encephalitis | null | null |
DOID:0050493 | tertiary syphilitic meningitis | null | null |
DOID:0050494 | Papillomaviridae infectious disease | A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. [url:http\://en.wikipedia.org/wiki/Papillomaviridae] | null |
DOID:0050495 | exanthema subitum | A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. [url:http\://en.wikipedia.org/wiki/Exanthema_subitum] | Sixth Disease EXACT [] |
DOID:0050496 | Banna virus encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. [url:http\://vir.sgmjournals.org/cgi/reprint/86/4/1147, url:http\://www.cdc.gov/EID/content/14/8/1276.htm] | null |
DOID:0050497 | Anelloviridae infectious disease | A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. [url:http\://en.wikipedia.org/wiki/Anelloviridae] | null |
DOID:0050498 | dsDNA virus infectious disease | A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. [url:http\://en.wikipedia.org/wiki/Viral_classification] | dsDNA virus infection EXACT [] |
DOID:0050499 | ssDNA virus infectious disease | A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. [url:http\://en.wikipedia.org/wiki/Viral_classification] | ssDNA virus infection EXACT [] |
DOID:0050500 | dsDNA-RT virus infectious disease | A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. [url:http\://en.wikipedia.org/wiki/Viral_classification] | dsDNA-RT virus infection EXACT [] |
DOID:0050501 | dsRNA virus infectious disease | A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. [url:http\://en.wikipedia.org/wiki/Viral_classification] | dsRNA virus infection EXACT [] |
DOID:0050502 | (+)ssRNA virus infectious disease | A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. [url:http\://en.wikipedia.org/wiki/Viral_classification] | positive-sense ssRNA virus infectious disease EXACT [] |
DOID:0050503 | (-)ssRNA virus infectious disease | A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. [url:http\://en.wikipedia.org/wiki/Viral_classification] | negative-sense ssRNA virus infectious disease EXACT [] |
DOID:0050504 | ssRNA-RT virus infectious disease | A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. [url:http\://en.wikipedia.org/wiki/Viral_classification] | ssRNA-RT virus infection EXACT [] |
DOID:0050505 | human papilloma virus related anal squamous cell carcinoma | A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. [url:http\://www.infectagentscancer.com/content/5/1/17] | null |
DOID:0050506 | human papilloma virus related vaginal squamous cell carcinoma | A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. [url:http\://emedicine.medscape.com/article/219110-overview, url:http\://emedicine.medscape.com/article/269188-overview] | null |
DOID:0050507 | AIDS-related cryptosporidiosis | null | null |
DOID:0050508 | variola major | A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. [url:http\://www.who.int/mediacentre/factsheets/smallpox/en/] | null |
DOID:0050509 | AIDS-related toxoplasmosis | null | null |
DOID:0050510 | AIDS-related cystoisosporiasis | null | AIDS-related isosporiasis EXACT [] |
DOID:0050511 | Human torovirus gastroenteritis | A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. [url:http\://www.jstor.org/stable/30117350] | null |
DOID:0050512 | Saffold virus gastroenteritis | A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. [url:http\://jvi.asm.org/cgi/content/full/83/9/4631, url:http\://www.cdc.gov/EID/content/15/9/1509.htm] | null |
DOID:0050513 | spinal polio | A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs. [url:http\://en.wikipedia.org/wiki/Poliomyelitis] | null |
DOID:0050514 | bulbospinal polio | A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs. [url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] | null |
DOID:0050515 | paralytic poliomyelitis | A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. [url:http\://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms] | null |
DOID:0050516 | O'nyong'nyong fever | A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false] | null |
DOID:0050517 | Barmah Forest virus disease | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [url:http\://health.vic.gov.au/ideas/bluebook/barmah_forest] | null |
DOID:0050518 | Ross River fever | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [url:http\://en.wikipedia.org/wiki/Ross_River_fever] | Ross River virus disease EXACT [] |
DOID:0050519 | Lymphocytic choriomeningitis virus meningitis | A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] | null |
DOID:0050520 | Lymphocytic choriomeningitis virus meningoencephalitis | A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm] | null |
DOID:0050521 | Oropouche fever | A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting. [url:http\://en.wikipedia.org/wiki/Oropouche_fever, url:http\://www.cdc.gov/EID/content/13/6/912.htm] | null |
DOID:0050522 | Balkan hemorrhagic fever | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. [url:http\://emedicine.medscape.com/article/982142-overview] | null |
DOID:0050523 | adult T-cell leukemia | A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. [url:http\://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184] | Adult T-cell leukemia/lymphoma EXACT [] |
DOID:0050524 | maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. [url:http\://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young] | MODY EXACT [] |
DOID:0050525 | acroosteolysis | null | Acroosteolysis syndrome RELATED [SNOMEDCT_2005_07_31:27201004] |
DOID:0050526 | Gamstorp-Wohlfart syndrome | A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia] | myokymia, myotonia and muscle wasting EXACT [] |
DOID:0050527 | familial hypertriglyceridemia | A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency. [url:http\://en.wikipedia.org/wiki/Familial_hypertriglyceridemia] | Pure hyperglyceridemia EXACT [] |
DOID:0050528 | nonphotosensitive trichothiodystrophy | null | HAIR-BRAIN SYNDROME EXACT [] |
DOID:0050529 | adult spinal muscular atrophy | null | SPINAL MUSCULAR ATROPHY, TYPE IV EXACT [] |
DOID:0050530 | intermediate spinal muscular atrophy | null | MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE EXACT [] |
DOID:0050531 | lentiginosis profusa | null | LENTIGINOSIS, INHERITED PATTERNED EXACT [] |
DOID:0050532 | epidermal nevus | null | PIGMENTED MOLES EXACT [] |
DOID:0050533 | soldiers heart | null | ORTHOSTATIC INTOLERANCE EXACT [] |
DOID:0050534 | congenital stationary night blindness | A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215] | congenital essential nyctalopia EXACT [] |
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. [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy] | FEVR EXACT [] |
DOID:0050536 | SC phocomelia syndrome | null | SC PSEUDOTHALIDOMIDE SYNDROME EXACT [] |
DOID:0050537 | posterior polar cataract | null | CATARACT, POSTERIOR POLAR EXACT [] |
DOID:0050538 | Charcot-Marie-Tooth disease type 1 | A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] | hereditary motor and sensory neuropathy type 1 EXACT [] |
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [url:http\://www.ncbi.nlm.nih.gov/pubmed/25098539, url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] | hereditary motor and sensory neuropathy type 2 EXACT [] |
DOID:0050540 | Charcot-Marie-Tooth disease type 3 | null | DEJERINE-SOTTAS SYNDROME EXACT [] |
DOID:0050541 | Charcot-Marie-Tooth disease type 4 | A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] | spinal CMT EXACT [] |
DOID:0050542 | Charcot-Marie-Tooth disease type X | A Charcot-Marie-Tooth disease has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm] | COWCK EXACT [] |
DOID:0050543 | Charcot-Marie-Tooth disease intermediate type | A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [url:http\://www.ncbi.nlm.nih.gov/pubmed/16775371, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114] | Charcot-Marie-Tooth disease recessive intermediate EXACT [] |
DOID:0050544 | hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. [url:http\://en.wikipedia.org/wiki/Hypermethioninemia] | hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency EXACT [] |
DOID:0050545 | visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [url:http\://en.wikipedia.org/wiki/Situs_ambiguus] | situs ambiguus EXACT [] |
DOID:0050546 | congenital adrenal insufficiency | null | P450scc DEFICIENCY EXACT [] |
DOID:0050547 | familial medullary thyroid carcinoma | A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance. [] | THYROID CARCINOMA, FAMILIAL MEDULLARY EXACT [] |
DOID:0050548 | hereditary sensory neuropathy | A peripheral neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [url:http\://omim.org/entry/616488?search=616488&highlight=616488] | hereditary sensory and autonomic neuropathy EXACT [] |
DOID:0050549 | Saldino-Noonan syndrome | null | type I short rib polydactyly syndrome EXACT [] |
DOID:0050550 | Majewski syndrome | null | type II short rib-polydactyly syndrome EXACT [] |
DOID:0050551 | Verma-Naumoff syndrome | null | type III short rib-polydactyly syndrome EXACT [] |
DOID:0050553 | JMP syndrome | An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. [url:http\://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf, url:http\://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php] | JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY EXACT [] |
DOID:0050554 | X-linked sideroblastic anemia with ataxia | null | X-linked sideroblastic anemia and ataxia EXACT [] |
DOID:0050556 | infantile onset spinocerebellar ataxia | null | OHAHA SYNDROME EXACT [] |
DOID:0050557 | congenital muscular dystrophy | A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. [url:http\://www.ninds.nih.gov/disorders/md/detail_md.htm] | null |
DOID:0050558 | Ullrich congenital muscular dystrophy | null | Ullrich scleroatonic muscular dystrophy EXACT [] |