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Disease	Synonyms	Description	Articles
autosomal dominant progressive external ophthalmoplegia 1	PEOA1	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal recessive progressive external ophthalmoplegia 1	PEOB1	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	PEOB5; autosomal recessive progressive external op.. [+] PEOB5; autosomal recessive progressive external ophthalmoplegia 5 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	PEOA4; autosomal dominant progressive external oph.. [+] PEOA4; autosomal dominant progressive external ophthalmoplegia 4 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. [-]
Guttmacher syndrome	preaxial deficiency-postaxial polydactyly-hypospad.. [+] preaxial deficiency-postaxial polydactyly-hypospadias syndrome; autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias [-]	A syndrome characterized by preaxial deficiencies ..[+] A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. [-]
spondyloepiphyseal dysplasia Maroteaux type	Pseudo-Morquio syndrome type 2; Brachyolmia Type 2.. [+] Pseudo-Morquio syndrome type 2; Brachyolmia Type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux [-]	An osteochondrodysplasia characterized by dysplast..[+] An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
Charcot-Marie-Tooth disease type 1G	PMP2-related CMT1; PMP2-related hereditary motor a.. [+] PMP2-related CMT1; PMP2-related hereditary motor and sensory neuropathy type 1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related Charcot-Marie-Tooth disease type 1; CMT1G [-]	A Charcot-Marie-Tooth disease type 1 characterized..[+] A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. [-]
overhydrated hereditary stomatocytosis	potassium sodium disorder of erythrocyte; OHS; sto.. [+] potassium sodium disorder of erythrocyte; OHS; stomatocytosisIOHST [-]	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. [-]
dehydrated hereditary stomatocytosis 1	PSHK1; pseudohyperkalemia familial 1, due to red c.. [+] PSHK1; pseudohyperkalemia familial 1, due to red cell leak; pseudohyperkalemia edinburgh; dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [-]	A dehydrated hereditary stomatocytosis that has_ma..[+] A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. [-]
Cohen syndrome	Pepper syndrome; COH1; Hypotonia, obesity, and pro.. [+] Pepper syndrome; COH1; Hypotonia, obesity, and prominent incisors [-]	A syndrome characterized by facial dysmorphism, mi..[+] A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. [-]
distal arthrogryposis type 10	plantar flexion contracture; DA10; short Achilles .. [+] plantar flexion contracture; DA10; short Achilles tendon; short tendo calcaneus [-]	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. [-]
ACTH-independent macronodular adrenal hyperplasia	primary macronodular adrenal hyperplasia; Primary .. [+] primary macronodular adrenal hyperplasia; Primary macronodular adrenal hyperplasia; 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; 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. [-]
Schopf-Schulz-Passarge syndrome	palmoplantar keratoderma-cystic eyelids-hypodontia.. [+] palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS; eccrine tumors-ectodermal dysplasia [-]	An ectodermal dysplasia characterized by multiple ..[+] An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. [-]
hyaline fibromatosis syndrome	puretic syndrome; HFS; inherited systemic hyalinos.. [+] puretic syndrome; HFS; inherited systemic hyalinosis; systemic hyalinosis [-]	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. [-]
Bothnian type palmoplantar keratoderma	PPKB; diffuse palmoplantar keratoderma, Bothnian t.. [+] PPKB; diffuse palmoplantar keratoderma, Bothnian type [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. [-]
focal or diffuse nonepidermolytic palmoplantar keratoderma	PPKNEFD; autosomal dominant focal non-epidermolyti.. [+] PPKNEFD; autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. [-]
Schaaf-Yang syndrome	PWLS; MAGEL2-related Prader-Willi-like syndrome; M.. [+] PWLS; MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; SHFYNG [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. [-]
Jacobsen Syndrome	partial 11q monosomy syndrome; chromosome 11q dele.. [+] partial 11q monosomy syndrome; chromosome 11q deletion syndrome; Jacobsen distal 11q deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. [-]
X-linked panhypopituitarism	pituitary dwarfism IV; PHPX	A panhypopituitarism that has_material_basis_in du..[+] A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. [-]
TARP syndrome	Pierre Robin syndrome-congenital heart defect-tali.. [+] Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; TARPS [-]	A syndrome characterized by talipes equinovarus, a..[+] A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. [-]	1 articles
syndromic microphthalmia 9	pulmonary agenesis microphthalmi and diaphragmatic.. [+] pulmonary agenesis microphthalmi and diaphragmatic defect; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; spear syndrome; clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; Matthew-Wood syndrome [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. [-]
syndactyly type 4	polysyndactyly, Haas type; Haas type syndactyly; S.. [+] polysyndactyly, Haas type; Haas type syndactyly; SDTY4 [-]	A syndactyly characterized by complete bilateral s..[+] A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
X-linked reticulate pigmentary disorder	Partington disease; PDR; X-linked reticulate pigme.. [+] PDR; Partington disease; X-linked reticulate pigmentary disorder with systemic manifestations [-]	A pigmentation disease characterized by early onse..[+] A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
thrombophilia due to activated protein C resistance	PCCF deficiency; PROC cofactor deficiency; APC res.. [+] PROC cofactor deficiency; PCCF deficiency; APC resistance; thrombophilia due to deficiency of activated protein C cofactor; thrombophilia V; activated protein C resistance; THPH2 [-]	A thrombophilia characterized by resistance of F5 ..[+] A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. [-]
thrombophilia due to thrombin defect	prothrombin-related thrombophilia; thrombophilia d.. [+] prothrombin-related thrombophilia; thrombophilia due to factor 2 defect; THPH1 [-]	A thrombophilia characterized by recurrent thrombo..[+] A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. [-]
immunodeficiency 14	PASLI disease; activated PI3K-delta syndrome; APDS.. [+] PASLI disease; activated PI3K-delta syndrome; APDS; IMD14; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. [-]
immunodeficiency 31B	predisposition to severe viral infection due to ST.. [+] predisposition to severe viral infection due to STAT1 deficiency; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; IMD31B; susceptibility to viral and mycobacterial infections due to STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 23	PGM3-related congenital disorder of glycosylation; .. [+] PGM3-related congenital disorder of glycosylation; PGM3-CDG; CID due to PGM3 deficiency; combined immunodeficiency due to PGM3 deficiency; IMD23 [-]	A combined T cell and B cells immunodeficiency cha..[+] A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. [-]
immunodeficiency 54	primary immunodeficiency with natural-killer cell .. [+] primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency; primary immunodeficiency due to MCM4 deficiency; familial isolated natural killer cell deficiency; IMD54; NKCD [-]	An NK cell deficiency characterized by severe intr..[+] An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. [-]
immunodeficiency 71	PLTEID; platelet abnormalities with eosinophilia a.. [+] PLTEID; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; IMD71; immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia [-]	A combined immunodeficiency characterized by throm..[+] A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. [-]
growth hormone secreting pituitary adenoma 2	PITA2; acromegaly due to pituitary adenoma 2; GH-s.. [+] PITA2; acromegaly due to pituitary adenoma 2; GH-secreting pituitary adenoma 2; X-linked acromegaly [-]	A growth hormone secreting pituitary adenoma chara..[+] A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. [-]
mutilating palmoplantar keratoderma with periorificial keratotic plaques	palmoplantar and periorificial keratoderma; mutila.. [+] palmoplantar and periorificial keratoderma; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; OLMS; Olmsted syndrome [-]	A keratosis characterized by a bilateral mutilatin..[+] A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. [-]
X-linked retinitis pigmentosa and sinorespiratory infections	primary ciliary dyskinesia-retinitis pigmentosa sy.. [+] primary ciliary dyskinesia-retinitis pigmentosa syndrome [-]	A syndrome characterized by retinitis pigmentosa a..[+] A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. [-]
corpus callosum agenesis-abnormal genitalia syndrome	Proud syndrome; Proud-Levine-Carpenter syndrome; A.. [+] Proud-Levine-Carpenter syndrome; Proud syndrome; ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome [-]	A syndrome characterized by agenesis of the corpus..[+] A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
CHIME syndrome	PIGL-CDG; coloboma-congenital heart disease-ichthy.. [+] PIGL-CDG; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; congenital disorder of glycosylation due to PIGL deficiency; neuroectodermal dysplasia, CHIME type; neuroectodermal syndrome, Zunich type; Zunich neuroectodermal syndrome; Zunich-Kaye syndrome [-]	A syndrome characterized by colobomas, congenital ..[+] A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. [-]
lissencephaly 9 with complex brainstem malformation	posterior-predominant lissencephaly-broad flat pon.. [+] posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome; LIS9 [-]	A lissencephaly characterized by global developmen..[+] A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. [-]
lissencephaly 1	PAFAH1B1-related lissencephaly; LIS1	A lissencephaly characterized by an abnormally thi..[+] A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. [-]
Woodhouse-Sakati syndrome	progressive extrapyramidal disorder with primary h.. [+] progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia; diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome [-]	A syndrome characterized by hypogonadism, alopecia..[+] A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. [-]
brain small vessel disease 2	porencephaly 2; BSVD2	A brain small vessel disease characterized by dist..[+] A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. [-]
methemoglobinemia and ambiguous genitalia	pure isolated 17,20-lyase deficiency; METAG; methe.. [+] pure isolated 17,20-lyase deficiency; METAG; methemoglobinemia due to deficiency of cytochrome b5; methemoglobinemia type IV [-]	A disorder of sexual development characterized by ..[+] A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. [-]

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