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Disease	Synonyms	Description	Articles
autosomal recessive woolly hair 3	ARWH3	A familial woolly hair syndrome that has_material_..[+] A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. [-]
asthma, nasal polyps, and aspirin intolerance	ASA triad	A respiratory system disease characterized by asth..[+] A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. [-]
autosomal recessive Whistling face syndrome		A Freeman-Sheldon syndrome that has autosomal rece..[+] A Freeman-Sheldon syndrome that has autosomal recessive inheritance. [-]
autosomal recessive spinocerebellar ataxia 4	autosomal recessive cerebellar ataxia-saccadic int.. [+] autosomal recessive cerebellar ataxia-saccadic intrusion syndrome; SCAR4; SCASI; spinocerebellar ataxia 24; SCA24; spinocerebellar ataxia with saccadic intrusions [-]	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	autosomal recessive spinocerebellar ataxia-blindne.. [+] autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia type 3; SCABD; SCAR3 [-]	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	autosomal recessive cerebellar ataxia-epilepsy-int.. [+] autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23 [-]	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	autosomal recessive spinocerebellar ataxia type 6; .. [+] autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia; SCAR6 [-]	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	Autosomal recessive cerebellar ataxia type 1; auto.. [+] Autosomal recessive cerebellar ataxia type 1; autosomal recessive ataxia, Beauce type; ARCA1; recessive ataxia of Beauce; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia [-]	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. [-]
ACTH-independent macronodular adrenal hyperplasia	AIMAH; adrenocorticotropic hormone-independent mac.. [+] AIMAH; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; ACTH-independent macronodular adrenocortical 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; 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. [-]
autosomal recessive nonsyndromic deafness 99	autosomal recessive deafness 99; DFNB99	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. [-]
autosomal recessive nonsyndromic deafness 57	autosomal recessive deafness 57; DFNB57	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. [-]
autosomal recessive nonsyndromic deafness 113	autosomal recessive deafness 113; DFNB113	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 112	autosomal recessive deafness 112; DFNB112	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. [-]
autosomal recessive nonsyndromic deafness 100	autosomal recessive deafness 100; DFNB100	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. [-]
autosomal recessive nonsyndromic deafness 109	autosomal recessive deafness 109; DFNB109	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. [-]
autosomal recessive nonsyndromic deafness 111	autosomal recessive deafness 111; DFNB111	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. [-]
autosomal recessive nonsyndromic deafness 94	autosomal recessive deafness 94; DFNB94	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
autosomal recessive nonsyndromic deafness 114	autosomal recessive deafness 114; DFNB114	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. [-]
autosomal recessive nonsyndromic deafness 115	autosomal recessive deafness 115; DFNB115	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. [-]
autosomal recessive nonsyndromic deafness 110	autosomal recessive deafness 110; DFNB110	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. [-]
Ayme-Gripp syndrome	AYGRP; cataracts, congenital, with sensorineural d.. [+] AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. [-]
ankyrin-B-related cardiac arrhythmia	ankyrin-B syndrome	A heart disease characterized by a broad spectrum ..[+] A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. [-]
amelogenesis imperfecta type 3	AI3; hypocalcified amelogenesis imperfecta	An amelogenesis imperfecta characterized by soft e..[+] An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. [-]
amelogenesis imperfecta type 3C	autosomal recessive amelogenesis imperfecta hypoca.. [+] autosomal recessive amelogenesis imperfecta hypocalcification type; amelogenesis imperfecta type IIIC; AI3C [-]	An amelogenesis imperfecta type 3 that is characte..[+] An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. [-]
aminoglycoside-induced deafness	streptomycin-induced deafness; streptomycin ototox.. [+] streptomycin-induced deafness; streptomycin ototoxicity [-]	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. [-]
adult-onset ataxia and polyneuropathy		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. [-]	1 articles
autosomal-mitochondrial sensorineural deafness		A sensorineural hearing loss characterized by prog..[+] A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. [-]
autosomal recessive congenital nystagmus	autosomal recessive congenital motor nystagmus	A congenital nystagmus characterized by autosomal ..[+] A congenital nystagmus characterized by autosomal recessive inheritance. [-]
autosomal hemophilia A	autosomal Factor VIII deficiency	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency. [-]
Aarskog syndrome	Aarskog-Scott syndrome; faciodigitogenital syndrom.. [+] Aarskog-Scott syndrome; faciodigitogenital syndrome; faciogenital dysplasia [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
autosomal dominant Aarskog syndrome		An Aarskog syndrome characterized by autosomal dom..[+] An Aarskog syndrome characterized by autosomal dominant inheritance. [-]
Abruzzo-Erickson syndrome	cleft palate-coloboma-deafness syndrome; CHARGE-li.. [+] cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome, X-linked [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
AMME complex	AMME syndrome; ATS-MR; Alport syndrome-intellectua.. [+] ATS-MR; AMME syndrome; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; chromosome Xq22.3 telomeric deletion syndrome [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]
autosomal recessive congenital bilateral absence of vas deferens		A congenital bilateral absence of vas deferens tha..[+] A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. [-]
autosomal dominant thrombophilia due to protein S deficiency	THPH5	A protein S deficiency characterized by reduced se..[+] A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal recessive thrombophilia due to protein C deficiency	autosomal recessive protein C deficiency; autosoma.. [+] autosomal recessive protein C deficiency; autosomal recessive PROC deficiency; THPH4 [-]	A protein C deficiency characterized by typically ..[+] A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal recessive thrombophilia due to protein S deficiency	autosomal recessive thrombophilia due to congenita.. [+] autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; THPH6 [-]	A protein S deficiency characterized by thrombosis..[+] A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal dominant thrombophilia due to protein C deficiency	autosomal dominant protein C deficiency; autosomal.. [+] autosomal dominant protein C deficiency; autosomal dominant PROC deficiency; THPH3 [-]	A thrombophilia characterized by reduced serum lev..[+] A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	autosomal dominant Olmsted syndrome; OLMS1; Olmste.. [+] autosomal dominant Olmsted syndrome; OLMS1; Olmsted syndrome 1 [-]	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. [-]
alpha-thalassemia myelodysplasia syndrome	alpha-thalassemia-myelodysplastic syndrome; ATMDS; .. [+] ATMDS; alpha-thalassemia-myelodysplastic syndrome; acquired hemoglobin H disease; acquired HbH disease [-]	A syndrome characterized by acquired alpha-thalass..[+] A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. [-]
autosomal dominant severe congenital neutropenia		A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. [-]
autosomal dominant nonsyndromic deafness 78	DFNA78	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. [-]
autosomal dominant nonsyndromic deafness 79	DFNA79	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. [-]
autosomal recessive nonsyndromic deafness 116	DFNB116	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. [-]
autosomal dominant nonsyndromic deafness 74	DFNA74	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. [-]

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