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Disease	Synonyms	Description
mucopolysaccharidosis IV	deficiency of N-acetylgalactosamine-6-sulphatase; .. [+] deficiency of N-acetylgalactosamine-6-sulphatase; deficiency of chondroitinsulphatase; chondroosteodystrophy; galactosamine-6-sulfatase deficiency; Morquio A disease; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis type IVB; Mucopolysaccharidosis, MPS-IV; Mucopolysaccharidosis, MPS-IV-A (disorder); Osteochondrodystrophy [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. [-]
alcoholic cardiomyopathy	Dilated cardiomyopathy secondary to alcohol (disor.. [+] Dilated cardiomyopathy secondary to alcohol (disorder); Alcohol-induced heart muscle disease; Alcoholic cardiomyopathy [-]	n_a
acute dacryocystitis	Dacryocystitis - acute	n_a
tinea unguium	Dermatophytosis of nail; dermatophytic onychomycos.. [+] Dermatophytosis of nail; dermatophytic onychomycosis; Dermatophytic onychia; cellulitis and abscess; cellulitis and abscess of buttock; cellulitis and abscess of face; cellulitis and abscess of finger; cellulitis and abscess of finger and toe; cellulitis and abscess of gluteal region; cellulitis and abscess of trunk; cellulitis and abscess of upper arm and forearm; Onychomycosis due to dermatophyte; Tinea unguium [-]	A dermatophytosis that results_in fungal infection..[+] A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. [-]
porphyria	disorder of porphyrin metabolism; disorder of porp.. [+] disorder of porphyrin metabolism; disorder of porphyrin and hem metabolism; Hematoporphyria; Porphyrinopathy [-]	An inherited metabolic disorder that involves cert..[+] An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [-]
tinea profunda	Deep seated dermatophytosis; Granuloma trichophyti.. [+] Deep seated dermatophytosis; Granuloma trichophyticum; Majocchi's granuloma [-]	A tinea corporis that results_in fungal infection ..[+] A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. [-]
tinea manuum	Dermatophytosis of hand; Tinea manus	A dermatophytosis that results_in fungal skin infe..[+] A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. [-]
childhood disintegrative disease	Disintegrative psychosis NOS (disorder); Heller's .. [+] Disintegrative psychosis NOS (disorder); Heller's syndrome; Symbiotic psychosis [-]	A pervasive developmental disorder that is a rare ..[+] A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. [-]
secondary Parkinson disease	disorder presenting primarily with parkinsonism; s.. [+] disorder presenting primarily with parkinsonism; secondary Parkinsonism; secondary parkinsonism (disorder); secondary parkinsonism (disorder) [Ambiguous]; secondary parkinsonism, unspecified; secondary parkinsonism, unspecified (disorder); Symptomatic parkinsonism (disorder) [-]	n_a
optic disk drusen	Drusen of optic disc; optic nerve head drusen	n_a
alveolar periostitis	Dry socket; Dry tooth socket; Alveolar periostitis.. [+] Dry tooth socket; Dry socket; Alveolar periostitis (disorder); Alveolitis of jaw; Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder) [-]	n_a
patent foramen ovale	Defect, Patent or persistent, ostium secundum; Atr.. [+] Defect, Patent or persistent, ostium secundum; Atrial septal defect within oval fossa; foramen ovale patent; Ostium secundum type atrial septal defect; Persistent ostium secundum [-]	n_a
anodontia	Developmental absence of tooth; Complete absence o.. [+] Developmental absence of tooth; Complete absence of teeth; Total anodontia of permanent and deciduous teeth [-]	n_a
hypoglossal nerve disease	disorder of XII nerve; disorder of hypoglossal ner.. [+] disorder of XII nerve; disorder of hypoglossal nerve (disorder); disorder of hypoglossal [12th] nerve; disorder of 12th nerve [-]	n_a
lymphogranuloma venereum	Durand-Nicolas-Favre disease; Climatic or tropical.. [+] Durand-Nicolas-Favre disease; Climatic or tropical bubo; Lymphogranuloma inguinale; Poradenitis inguinale; Strumous bubo [-]	A commensal bacterial infectious disease that resu..[+] A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. [-]
patent ductus arteriosus	ductus arteriosus, Patent; Patent ductus Botalli	n_a
trochlear nerve disease	disorder of trochlear nerve; Superior oblique musc.. [+] disorder of trochlear nerve; Superior oblique muscle innervation disorder; Trochlear nerve disorder, NOS; Trochlear nerve disorder [-]	n_a
red-green color blindness	Deutan defect; Deuteranopia; Reduced red-green dis.. [+] Deuteranopia; Deutan defect; Reduced red-green discrimination [-]	n_a
root caries	Dental caries of root surface; Cementum caries; Ro.. [+] Dental caries of root surface; Cementum caries; Root caries [-]	n_a
hypophosphatasia	deficiency of alkaline phosphatase (disorder) [Amb.. [+] deficiency of alkaline phosphatase (disorder) [Ambiguous]; deficiency of alkaline phosphatase (disorder); childhood hypophosphatasia (disorder); hypophospatasia, childhood [-]	n_a
abdominal obesity-metabolic syndrome 1	dysmetabolic syndrome X; abdominal obesity-metabol.. [+] dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1; metabolic syndrome X [-]	An abdominal obesity-metabolic syndrome characteri..[+] An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. [-]
vulvar dystrophy	Dystrophy of vulva	A vulvar disease that is characterized as irregula..[+] A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. [-]
systemic primary carnitine deficiency disease	deficiency of plasma-membrane carnitine transporte.. [+] deficiency of plasma-membrane carnitine transporter; carnitine transporter deficiency; carnitine uptake defect; primary carnitine deficiency; renal carnitine transport defect (disorder) [-]	An amino acid metabolic disorder that involves def..[+] An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. [-]
Fabry disease	deficiency of melibiase; alpha galactosidase defic.. [+] deficiency of melibiase; alpha galactosidase deficiency; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; Fabry's disease [-]	n_a
argininosuccinic aciduria	deficiency of argininosuccinate lyase (disorder); .. [+] deficiency of argininosuccinate lyase (disorder); Argininosuccinate lyase deficiency (disorder); argininosuccinic acidemia; arginosuccinase deficiency [-]	An amino acid metabolic disorder that involves the..[+] An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. [-]
Larsen syndrome	dominant larsen syndrome	An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. [-]
olivopontocerebellar atrophy	Dejerine-Thomas syndrome; Thomas' syndrome; WADIA-.. [+] Dejerine-Thomas syndrome; Thomas' syndrome; WADIA-SWAMI SYNDROME [-]	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. [-]
tinea barbae	dermatophytosis of beard	A dermatophytosis that results_in fungal infection..[+] A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. [-]
nonepidermolytic palmoplantar keratoderma	diffuse nonepidermolytic palmomplantar keratoderma.. [+] diffuse nonepidermolytic palmomplantar keratoderma; Thost-Unna Syndrome; tylosis; Unna-Thost Syndrome [-]	A palmoplantar keratosis characterized by a well-d..[+] A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. [-]
familial partial lipodystrophy	Dunnigan Syndrome; Koberling-Dunnigan Syndrome	A lipodystrophy characterized by abnormal subcutan..[+] A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [-]
Brugada syndrome	Dream disease; Bangungut; Brugada type idiopathic .. [+] Dream disease; Bangungut; Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; SUNDS [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]
Buruli ulcer disease	Daintree ulcer; Bairnsdale ulcer; Mossman ulcer; S.. [+] Daintree ulcer; Bairnsdale ulcer; Mossman ulcer; Searl ulcer; Searle's ulcer [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Sertoli cell-only syndrome	DEL CASTILLO SYNDROME; Germinal Cell Aplasia	n_a
Charcot-Marie-Tooth disease type 3	DEJERINE-SOTTAS SYNDROME; DEJERINE-SOTTAS NEUROPAT.. [+] DEJERINE-SOTTAS SYNDROME; DEJERINE-SOTTAS NEUROPATHY [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. [-]
congenital disorder of glycosylation type I	DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); DPM1-CDG (CD.. [+] DPM3-CDG (CDG-1o); DPM2-CDG (CDG-1u); DPM1-CDG (CDG-1e); DPAGT1-CDG (CDG-1j); DOLK-CDG (CDG-1m); ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (CDG-1g); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
Qazi Markouizos syndrome	Dysharmonic skeletal maturation - muscular fibre d.. [+] Dysharmonic skeletal maturation - muscular fibre disproportion; Qazi-Markouizos syndrome [-]	A syndrome that is characterized by hypotonia, con..[+] A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [-]
fibular hypoplasia and complex brachydactyly	Du Pan syndrome	An autosomal recessive disease that is characteris..[+] An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	defective biosynthesis of proteodermatan sulfate; .. [+] defective biosynthesis of proteodermatan sulfate; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; Ehlers-Danlos syndrome progeroid type [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
tricuspid valve disease	disease of tricuspid valve; RH. tricuspid valve di.. [+] disease of tricuspid valve; RH. tricuspid valve disease; Rheumatic disease of tricuspid valve (disorder); rheumatic tricuspid valve disease; Rheumatic tricuspid valve disease NOS (disorder); Tricuspid disease; Rheumatic disease of tricuspid valve [-]	A heart valve disease that is characterized by val..[+] A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. [-]
generalized dystonia	dystonia musculorum deformans; dystonia deformans .. [+] dystonia musculorum deformans; dystonia deformans progressiva; Dystonia 12; familial dystonia; fragments of torsion dystonia; idiopathic familial dystonia; idiopathic non-familial dystonia; Idiopathic torsion dystonia; symptomatic torsion dystonia [-]	A dystonia that affects most or all of the body.
reticular dysgenesis	De Vaal disease; aleukocytosis	A severe combined immunodeficiency that is the mos..[+] A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [-]
body dysmorphic disorder	dysmorphic syndrome; dysmorphophobia; body dysmorp.. [+] dysmorphophobia; dysmorphic syndrome; body dysmorphia [-]	A somatoform disorder that involves an excessive c..[+] A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [-]
amyotrophic lateral sclerosis type 4	distal hereditary motor neuropathy with upper moto.. [+] distal hereditary motor neuropathy with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features; dHMN with upper motor neuron signs; ALS 4; amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile [-]	An amyotrophic lateral sclerosis with juvenile ons..[+] An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9. [-]
Cogan syndrome	diffuse interstitual keratitis; Cogan's syndrome	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
3-M syndrome	dolichospondylic dysplasia; gloomy face syndrome; .. [+] dolichospondylic dysplasia; gloomy face syndrome; Le Merrer syndrome; Miller-McKusick-Malvaux syndrome; three M syndrome; Yakut short stature syndrome [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
Simpson-Golabi-Behmel syndrome type 1	DGSX Golabi-Rosen syndrome; bulldog syndrome; Gola.. [+] DGSX Golabi-Rosen syndrome; bulldog syndrome; Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
ptosis	drooping eyelid; blepharoptosis	An eye disease characterized by the drooping or fa..[+] An eye disease characterized by the drooping or falling of the upper or lower eyelid. [-]
agnathia-otocephaly complex	dysgnathia complex agnathia-holoprosencephaly; agn.. [+] dysgnathia complex agnathia-holoprosencephaly; agnathia-holoprosencephaly-situs inversus syndrome; holoprosencephaly-agnathia; otocephaly [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
chromosome 13q14 deletion syndrome	deletion 13q14	n_a
chromosome 15q26-qter deletion syndrome	distal monosomy 15q; Drayer syndrome; distal 15q d.. [+] Drayer syndrome; distal monosomy 15q; distal 15q deletion syndrome; 15q26 deletion syndrome; telomeric 15q deletion syndrome [-]	n_a

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