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Disease	Synonyms	Description
17-beta hydroxysteroid dehydrogenase 3 deficiency	17-beta-hydroxysteroid dehydrogenase 3 deficiency;.. [+] 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 17-KSR deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; male pseudohermaphroditism with gynecomastia; neutral 17-beta-hydroxysteroid oxidoreductase deficiency; [-]	A pseudohermaphroditism characterized by undermasc..[+] A 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 testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. [-]
2-aminoadipic 2-oxoadipic aciduria	alpha-aminoadipic aciduria; AMOXAD;	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. [-]
2-hydroxyglutaric aciduria		An amino acid metabolic disorder that is an autoso..[+] An 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-M syndrome	gloomy face syndrome; Le Merrer syndrome; three M .. [+] gloomy face syndrome; Le Merrer syndrome; three M syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia; [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
3-Methylcrotonyl-CoA carboxylase 1 deficiency		A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+] A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. [-]
3-methylcrotonyl-CoA carboxylase deficiency	3MCC deficiency; BMCC deficiency; 3-Methylcrotonyl.. [+] 3MCC deficiency; BMCC deficiency; 3-Methylcrotonylglycinuria; [-]	An amino acid metabolic disorder that is classifie..[+] An 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 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. [-]
3-methylglutaconic aciduria		An organic acidemia that is characterized by eleva..[+] An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. [-]
3-methylglutaconic aciduria type 1	3MG-CoA hydratase deficiency; 3-methylglutaconic a.. [+] 3MG-CoA hydratase deficiency; 3-methylglutaconic aciduria type I; MGA type I; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. [-]
3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type III; autosomal re.. [+] 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3; autosomal recessive optic atrophy type 3; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
3-methylglutaconic aciduria type 4	MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu.. [+] MGA type IV; MGA4; MGCA4; 3-methylglutaconic aciduria type IV; [-]	A 3-methylglutaconic aciduria that is characterize..[+] A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. [-]
3-methylglutaconic aciduria type 5	3-methylglutaconic aciduria type V; DCMA syndrome;.. [+] 3-methylglutaconic aciduria type V; DCMA syndrome; MGA5; MGCA5; DCMA; dilated cardiomyopathy with ataxia; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. [-]
3-methylglutaconic aciduria type 7a		A 3-methylglutaconic aciduria that is characterize..[+] A 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 has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. [-]
3-methylglutaconic aciduria type 7b		A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. [-]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	3-methylglutaconic aciduria type 7; 3-methylglutac.. [+] 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type VII; MGA7; MGCA7; MEGCANN; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. [-]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	3-methylglutaconic aciduria type 6; MEGDEL; MGCA6;.. [+] 3-methylglutaconic aciduria type 6; MEGDEL; MGCA6; MEGDEL syndrome; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. [-]
3MC syndrome	oculopalatoskeletal syndrome ; craniofacial-ulnar-.. [+] oculopalatoskeletal syndrome ; craniofacial-ulnar-renal syndrome; [-]	A syndrome characterized by blepharophimosis, blep..[+] 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. [-]
3MC syndrome 1		A 3MC syndrome that has_material_basis_in homozygo..[+] A 3MC syndrome that has_material_basis_in homozygous mutation in the MASP1 gene on chromosome 3q27. [-]
3MC syndrome 2		A 3MC syndrome that has_material_basis_in homozygo..[+] A 3MC syndrome that has_material_basis_in homozygous mutation in the COLEC11 gene on chromosome 2p25. [-]
3MC syndrome 3		A 3MC syndrome that has_material_basis_in a compou..[+] A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. [-]
3p deletion syndrome	chromosome 3pter-P25 deletion syndrome; distal mon.. [+] chromosome 3pter-P25 deletion syndrome; distal monosomy 3p; [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. [-]
45,X/46,XY mixed gonadal dysgenesis		A mixed gonadal dysgenesis that is characterized b..[+] A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. [-]
46 XX gonadal dysgenesis		A gonadal dysgenesis that is characterized by the ..[+] A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. [-]
46,XX sex reversal	46,XX testicular disorder of sex development; 46,X.. [+] 46,XX testicular disorder of sex development; 46,XX testicular DSD; De la Chapelle syndrome; SRXX; XX, male syndrome; [-]	A gonadal dysgenesis characterized by presentation..[+] A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. [-]
46,XX sex reversal 1	SRXX1;	A 46,XX sex reversal that has_material_basis_in tr..[+] A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. [-]
46,XX sex reversal 2	chromosome 17q24 dupication syndrome; SRXX2;	A 46,XX sex reversal that has_material_basis_in he..[+] A 46,XX sex reversal that has_material_basis_in 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 3	SRXX3;	A 46,XX sex reversal that has_material_basis_in ge..[+] A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. [-]
46,XX sex reversal 4	SRXX4;	A 46,XX sex reversal that has_material_basis_in he..[+] A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. [-]
46,XX sex reversal 5		A 46,XX sex reversal that is characterized by geni..[+] A 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 syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. [-]
46,XY sex reversal	46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY;.. [+] 46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; Swyer syndrome; 46 XY gonadal dysgenesis; [-]	A gonadal dysgenesis that is characterized by a no..[+] A 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 sex reversal 1	46,XY gonadal dysgenesis, complete, SRY-related; 4.. [+] 46,XY gonadal dysgenesis, complete, SRY-related; 46,XY sex reversal, SRY-related; SRXY1; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. [-]
46,XY sex reversal 10	SRXY10; chromosome 17q24 deletion syndrome;	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. [-]
46,XY sex reversal 2	46,XY sex reversal, DAX1-related; 46XY sex reversa.. [+] 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; DSS; SRXY2; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. [-]
46,XY sex reversal 3	46,XY gonadal dysgenesis, partial or complete, wit.. [+] 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; 46,XY sex reversal, partial or complete, NR5A1-related; disorder of sex development, 46,XY, NR5A1-related; sex reversal, XY, with or without adrenal failure; SRXY3; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. [-]
46,XY sex reversal 4	46,XY gonadal dysgenesis, partial or complete, wit.. [+] 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; chromosome 9p24.3 deletion syndrome; SRXY4; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 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 the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. [-]
46,XY sex reversal 5	46,XY gonadal dysgenesis, complete, CBX2-related; .. [+] 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related; sex reversal, XY, CBX2-related; SRXY5; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. [-]
46,XY sex reversal 6	46,XY gonadal dysgenesis, partial or complete, MAP.. [+] 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related; 46,XY sex reversal, partial or complete, MAP3K1-related; SRXY6; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. [-]
46,XY sex reversal 7	46,XY gonadal dysgenesis, partial or complete, DHH.. [+] 46,XY gonadal dysgenesis, partial or complete, DHH-related; 46,XY sex reversal, partial or complete, DHH-related; GDXYM; gonadal dysgenesis, XY, male limited; SRXY7; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. [-]
46,XY sex reversal 8	male pseudohermaphroditism due to deficiency of te.. [+] male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; SRXY8; TDD; [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. [-]
46,XY sex reversal 9	46,XY sex reversal, ZFPM2-related; SRXY9;	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. [-]
7q11.23 duplication syndrome	7q11.23 microduplication syndrome; chromosome 7q11.. [+] 7q11.23 microduplication syndrome; chromosome 7q11.23 duplication syndrome; William-Beuren region duplication syndrome; [-]	A chromosomal duplication syndrome that is charact..[+] A 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), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. [-]
A53 diffuse large B-cell lymphoma	A53 DLBCL;	A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. [-]
ABCD syndrome	albinism, block lock, cell migration disorder of t.. [+] albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness; ABCDS; albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness; [-]	A syndrome that is characterized by albinism, blac..[+] A syndrome 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). [-]
ACTH-independent macronodular adrenal hyperplasia	ACTH-independent macronodular adrenocortical hyper.. [+] ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; AIMAH; MMAD; [-]	A primary hyperaldosteronism characterized by mult..[+] A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. [-]
ACTH-independent macronodular adrenal hyperplasia 1	AIMAH1;	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. [-]
ACTH-independent macronodular adrenal hyperplasia 2	AIMAH2;	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. [-]
ACTH-secreting pituitary adenoma	ACTH-Producing Pituitary Adenoma; Corticotroph ade.. [+] ACTH-Producing Pituitary Adenoma; Corticotroph adenoma; Corticotropinoma; [-]	A functioning pituitary adenoma that characterized..[+] A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. [-]
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome;	A syndrome that is characterized by light pigmenta..[+] A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. [-]
AGAT deficiency	arginine:glycine amidinotransferase deficiency; CE.. [+] arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3; [-]	An amino acid metabolic disorder that has_material..[+] 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. [-]
AIDS phobia		n_a
AMED syndrome	AMEDS;	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. [-]

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