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1,4-Phenylenediamine Allergic Contact DermatitisAn allergic contact dermatitis that triggered by 1,4-phenylenediamine.17-Beta Hydroxysteroid Dehydrogenase 3 DeficiencyA pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of tes1-Chloro-2,4-Dinitrobenzene Allergic Contact DermatitisAn allergic contact dermatitis that triggered by 1-chloro-2,4-dinitrobenzene.2,4-Dinitrophenyl Allergic Contact DermatitisAn allergic contact dermatitis that triggered by 2,4-dinitrophenyl group.2-Aminoadipic 2-Oxoadipic AciduriaAn amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that is caused by homozygous or compound heterozyg2-Hydroxyglutaric AciduriaAn amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyAn amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-met3-Hydroxyisobutryl-CoA Hydrolase DeficiencyAn amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that is caused by homozygous or compound hetero3MC SyndromeA 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 ca3MC Syndrome 1A 3MC syndrome that is caused by autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.3MC Syndrome 2A 3MC syndrome that is caused by autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.3MC Syndrome 3A 3MC syndrome that is caused by a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyA 3-Methylcrotonyl-CoA carboxylase deficiency that is caused by homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.3-Methylcrotonyl-CoA Carboxylase 2 DeficiencyA 3-Methylcrotonyl-CoA carboxylase deficiency that is caused by homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.3-Methylcrotonyl-CoA Carboxylase DeficiencyAn amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease causes muscular hypot3-Methylglutaconic AciduriaAn organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.3-Methylglutaconic Aciduria Type 1A 3-methylglutaconic aciduria that is caused by homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.3-Methylglutaconic Aciduria Type 3A 3-methylglutaconic aciduria that is caused by mutation in the OPA3 gene.3-Methylglutaconic Aciduria Type 4A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.3-Methylglutaconic Aciduria Type 5A 3-methylglutaconic aciduria that is caused by homozygous mutation in the DNAJC19 gene on chromosome 3q26.3-Methylglutaconic Aciduria Type 7aA 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that is caused by heterozygous dominan3-Methylglutaconic Aciduria Type 7bA 3-methylglutaconic aciduria that is caused by homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.3-Methylglutaconic Aciduria Type 8A 3-methylglutaconic aciduria that is caused by homozygous mutation in the HTRA2 gene on chromosome 2p13.3-Methylglutaconic Aciduria Type 9A 3-methylglutaconic aciduria that is caused by homozygous mutation in the TIMM50 gene on chromosome 19q13.3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and NeutropeniaA 3-methylglutaconic aciduria that is caused by homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like SyndromeA 3-methylglutaconic aciduria that is caused by homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.3-M SyndromeA syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.3p Deletion SyndromeA chromosomal deletion syndrome that is caused by a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and grow45,X/46,XY Mixed Gonadal DysgenesisA mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.46 XX Gonadal DysgenesisA gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.46,XX Sex ReversalA gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.46,XX Sex Reversal 1A 46,XX sex reversal that is caused by translocation of SRY onto the X chromosome.46,XX Sex Reversal 2A 46,XX sex reversal that is caused by heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.46,XX Sex Reversal 3A 46,XX sex reversal that is caused by genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.46,XX Sex Reversal 4A 46,XX sex reversal that is caused by heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.46,XX Sex Reversal 5A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndr46,XY Complete Gonadal DysgenesisA gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.46,XY Gonadal Dysgenesis with Minifascicular NeuropathyA gonadal dysgenesis that characterized by minifascicular neuropathy and that is caused by mutation in the desert hedgehog gene (DHH).46,XY Sex Reversal 1A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by hemizygous mutation in SR46,XY Sex Reversal 10A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by heterozygous deletion of46,XY Sex Reversal 2A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by hemizygous duplication of46,XY Sex Reversal 3A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by heterozygous mutation in46,XY Sex Reversal 4A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of t46,XY Sex Reversal 5A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by homozygous or compound he46,XY Sex Reversal 6A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by heterozygous mutation in46,XY Sex Reversal 7A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by homozygous or compound he46,XY Sex Reversal 8A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by homozygous or compound he46,XY Sex Reversal 9A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that is caused by heterozygous mutation in4-Tert-Butylphenol Allergic Contact DermatitisAn allergic contact dermatitis that triggered by 4-tert-butylphenol.4-Vinylcyclohexene Dioxide Respiratory AllergyA respiratory allergy that triggered by 4-vinylcyclohexene dioxide.7q11.23 Duplication SyndromeA chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facia
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