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Disease	Synonyms	Description	Articles
trichohepatoenteric syndrome	Syndromic diarrhea/Tricho-hepato-enteric syndrome; .. [+] Syndromic diarrhea/Tricho-hepato-enteric syndrome; syndromic diarrhea; SD/THE; phenotypic diarrhea; THES; Tricho-hepato-enteric syndrome [-]	A syndrome characterized by intractable diarrhea, ..[+] A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. [-]
combined oxidative phosphorylation deficiency 19	severe neonatal lactic acidosis due to NFS1-ISD11 .. [+] severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency; COXPD19 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. [-]
combined oxidative phosphorylation deficiency 7	severe C12ORF65-related COXPD; severe C12ORF65-rel.. [+] severe C12ORF65-related COXPD; severe C12ORF65-related combined oxidative phosphorylation defect; COXPD7 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 34	syndromic sensorineural hearing loss due to COXPD; .. [+] syndromic sensorineural hearing loss due to COXPD; syndromic sensorineural deafness due to COXPD; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; COXPD34 [-]	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. [-]
combined oxidative phosphorylation deficiency 6	severe X-linked mitochondrial encephalomyopathy; C.. [+] severe X-linked mitochondrial encephalomyopathy; COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; Mitochondrial encephalomyopathy due to COXPD6 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
linear nevus sebaceous syndrome	Schimmelpenning Feuerstein Mims syndrome; Solomon .. [+] Schimmelpenning Feuerstein Mims syndrome; Solomon syndrome; SFM syndrome; Schimmelpenning syndrome; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; nevus sebaceus of Jadassohn; JNP; organoid nevus syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
paroxysmal extreme pain disorder	submandibular, ocular and rectal pain with flushin.. [+] submandibular, ocular and rectal pain with flushing; familial rectal pain; PEPD; PEXPD [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. [-]	1 articles
neurogenic scapuloperoneal syndrome Kaeser type	scapuloperoneal syndrome, neurogenic, Kaeser type; .. [+] scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome; scapuloperoneal syndrome type Kaeser; Kaeser syndrome [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
Charcot-Marie-Tooth disease type 2A2B	severe early-onset axonal neuropathy due to MFN2 d.. [+] severe early-onset axonal neuropathy due to MFN2 deficiency; SEOAN due to MFN2 deficiency; AR-CMT2, Ouvrier type; Charcot-Marie-Tooth disease, axonal, type 2A2B; CMT2A2B; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
overhydrated hereditary stomatocytosis	stomatocytosisIOHST; OHS; potassium sodium disorde.. [+] stomatocytosisIOHST; OHS; potassium sodium disorder of erythrocyte [-]	A macrocytic anemia characterized by macrocytic he..[+] A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. [-]
Greenberg dysplasia	Skeletal dysplasia, Greenberg type; autosomal rece.. [+] Skeletal dysplasia, Greenberg type; autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; hydrops-ectopic calcification-motheaten syndrome; hydrops, ectopic calcification, moth-eaten skeletal dysplasia [-]	An inherited metabolic disorder characterized by a..[+] An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. [-]
distal arthrogryposis type 10	short Achilles tendon; short tendo calcaneus; DA10.. [+] short tendo calcaneus; short Achilles tendon; DA10; plantar flexion contracture [-]	A distal arthrogryposis that has_material_basis_in..[+] A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. [-]
distal arthrogryposis type 2B	Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndr.. [+] Sheldon-Hall syndrome; DA2B; Freeman-Sheldon syndrome variant [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
autosomal recessive spinocerebellar ataxia 4	spinocerebellar ataxia with saccadic intrusions; S.. [+] spinocerebellar ataxia with saccadic intrusions; SCA24; spinocerebellar ataxia 24; SCASI; SCAR4; autosomal recessive cerebellar ataxia-saccadic intrusion syndrome [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. [-]
autosomal recessive spinocerebellar ataxia 3	SCABD; SCAR3; autosomal recessive spinocerebellar .. [+] SCAR3; SCABD; autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 23	SCAR23; autosomal recessive cerebellar ataxia-epil.. [+] SCAR23; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. [-]
autosomal recessive spinocerebellar ataxia 22	SCAR22	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. [-]
autosomal recessive spinocerebellar ataxia 24	SCAR24	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
autosomal recessive spinocerebellar ataxia 6	SCAR6; autosomal recessive spinocerebellar ataxia .. [+] SCAR6; autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. [-]
autosomal recessive spinocerebellar ataxia 8	SYNE1-related autosomal recessive cerebellar ataxi.. [+] SYNE1-related autosomal recessive cerebellar ataxia; SCAR8; ARCA1; autosomal recessive ataxia, Beauce type; Autosomal recessive cerebellar ataxia type 1; recessive ataxia of Beauce [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. [-]
congenital sucrase-isomaltase deficiency	SI deficiency; congenital sucrase-isomaltose malab.. [+] SI deficiency; congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; disaccharide intolerance; CSID [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. [-]
hyaline fibromatosis syndrome	systemic hyalinosis; HFS; inherited systemic hyali.. [+] systemic hyalinosis; HFS; inherited systemic hyalinosis; puretic syndrome [-]	A connective tissue disease characterized by abnor..[+] A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. [-]
primary hyperoxaluria type 1	serine pyruvate aminotransferase deficiency; serin.. [+] serine pyruvate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; glycolic aciduria [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
diffuse cystic renal dysplasia	susceptibility to cystic renal dysplasia; CYSRD; r.. [+] susceptibility to cystic renal dysplasia; CYSRD; renal dysplasia diffuse cystic [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]	1 articles
aminoglycoside-induced deafness	streptomycin ototoxicity; streptomycin-induced dea.. [+] streptomycin ototoxicity; streptomycin-induced deafness [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
cerebellar ataxia type 42	SCA42	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. [-]
cerebellar ataxia type 47	SCA47	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. [-]
cerebellar ataxia type 41	SCA41	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]
cerebellar ataxia type 43	SCA43	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. [-]
cerebellar ataxia type 48	SCA48	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. [-]
cerebellar ataxia type 9	SCA9	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. [-]
46,XX sex reversal	SRXX; 46,XX testicular disorder of sex development.. [+] SRXX; 46,XX testicular disorder of sex development; 46,XX testicular DSD; De la Chapelle syndrome; 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 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 2	SRXX2; chromosome 17q24 dupication syndrome	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 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,XY sex reversal 6	SRXY6; 46,XY gonadal dysgenesis, partial or comple.. [+] SRXY6; 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related; 46,XY sex reversal, partial or complete, MAP3K1-related [-]	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 9	SRXY9; 46,XY sex reversal, ZFPM2-related	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. [-]
46,XY sex reversal 4	SRXY4; 46,XY gonadal dysgenesis, partial or comple.. [+] SRXY4; 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; chromosome 9p24.3 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 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 3	SRXY3; sex reversal, XY, with or without adrenal f.. [+] SRXY3; sex reversal, XY, with or without adrenal failure; 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 [-]	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 8	SRXY8; male pseudohermaphroditism due to deficienc.. [+] SRXY8; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; 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 7	SRXY7; 46,XY gonadal dysgenesis, partial or comple.. [+] SRXY7; 46,XY gonadal dysgenesis, partial or complete, DHH-related; 46,XY sex reversal, partial or complete, DHH-related; GDXYM; gonadal dysgenesis, XY, male limited [-]	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 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 5	sex reversal, XY, CBX2-related; SRXY5; 46,XY gonad.. [+] SRXY5; sex reversal, XY, CBX2-related; 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related [-]	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 2	SRXY2; 46,XY sex reversal, DAX1-related; 46XY sex .. [+] SRXY2; 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; DSS [-]	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 1	SRXY1; 46,XY gonadal dysgenesis, complete, SRY-rel.. [+] SRXY1; 46,XY gonadal dysgenesis, complete, SRY-related; 46,XY sex reversal, SRY-related [-]	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. [-]
linear skin defects with multiple congenital anomalies 1	syndromic microphthalmia type 7; syndromic microph.. [+] syndromic microphthalmia type 7; syndromic microphthalmia 7; MCOPS7; microphthalmia-dermal aplasia-sclerocornea syndrome; MIDAS syndrome; MLS syndrome; Microphthalmia with linear skin defect syndrome [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. [-]
X-linked spinal muscular atrophy 2	spinal muscular atrophy with arthrogryposis; SMAX2.. [+] spinal muscular atrophy with arthrogryposis; SMAX2; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; infantile-onset X-linked spinal muscular atrophy [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
X-linked spinocerebellar ataxia 1	SCAX1; X-linked progressive cerebellar ataxia	An X-linked cerebellar ataxia characterized by hyp..[+] An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. [-]

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