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Disease Synonyms Description Articles Phenotypes
conjugate gaze palsy
Palsy of conjugate gaze
n_a
chronic progressive external ophthalmoplegia
progressive external ophthalmoplegia; progressive .. [+]
n_a
hyperprolactinemia
Pregnancy-related A-G syndrome; Pregnancy-related .. [+]
An acquired metabolic disease that has_material_ba..[+]
myoclonic cerebellar dyssynergia
progressive cerebellar tremor; Dyssynergia cerebel.. [+]
n_a
newborn respiratory distress syndrome
pulmonary hypoperfusion syndrome of newborn; pulmo.. [+]
A respiratory failure that is characterized by def..[+]
multiple epiphyseal dysplasia
polyepiphyseal dysplasia
An osteochondrodysplasia that has_material_basis_i..[+]
intermediate uveitis
peripheral uveoretinitis; chronic cyclitis
n_a
diabetic polyneuropathy
Polyneuropathy in diabetes; Diabetes mellitus with.. [+]
n_a
Guillain-Barre syndrome
Post-infectious polyneuritis; Postinfectious polyn.. [+]
An autoimmune disease of peripheral nervous system..[+]
thromboangiitis obliterans
Presenile gangrene; Presenile gangrene (disorder); .. [+]
n_a
dilated cardiomyopathy
primary dilated cardiomyopathy; Idiopathic dilatio.. [+]
An intrinsic cardiomyopathy that is characterized ..[+]
3 articles
retinopathy of prematurity
premature retinopathy; Retrolental fibroplasia
n_a
Moyamoya disease
progressive intracranial arterial occlusion
A cerebral arterial disease characterized by const..[+]
severe pre-eclampsia
postpartum severe pre-eclampsia; antepartum severe.. [+]
A pre-eclampsia that has_symptom at least one of t..[+]
Werdnig-Hoffmann disease
progressive muscular atrophy of infancy; HMN (Here.. [+]
A childhood spinal muscular atrophy that is a seve..[+]
allergic bronchopulmonary aspergillosis
pulmonary aspergillus disease
An aspergillosis that involves an allergic reactio..[+]
uterine fibroid
Plexiform leiomyoma; uterine leiomyoma; UTERUS FIB.. [+]
An uterine benign neoplasm derived from the smooth..[+]
erythropoietic protoporphyria
Protoporphyria; EPP (erythropoietic protoporphyria.. [+]
An acute porphyria characterized by a deficiency i..[+]
Klebsiella pneumonia
Pneumonia due to Klebsiella pneumoniae (disorder); .. [+]
A bacterial pneumonia involving Klebsiella pneumon..[+]
Mycoplasma pneumoniae pneumonia
Pneumonia due to Mycoplasma pneumoniae (disorder); .. [+]
A bacterial pneumonia that is caused by the bacter..[+]
hyperinsulinemic hypoglycemia
persistent hyperinsulinemia hypoglycemia of infanc.. [+]
A carbohydrate metabolic disorder that involves lo..[+]
fibrodysplasia ossificans progressiva
progressive ossifying myositis; progressive myosit.. [+]
A connective tissue disease that is characterized ..[+]
hepatic encephalopathy
Portal-systemic encephalopathy
A brain disease that is characterized by loss of b..[+]
coccidioidomycosis
primary extrapulmonary coccidioidomycosis; primary.. [+]
A primary systemic mycosis that results_in systemi..[+]
balanitis xerotica obliterans
Penile Lichen Sclerosus
A balantitis characterized by white plaques or pat..[+]
interval angle-closure glaucoma
Prodromal angle closure glaucoma; Intermittent ang.. [+]
A primary angle-closure glaucoma characterized by ..[+]
angle-closure glaucoma
primary open-angle glaucoma with narrow angles; AC.. [+]
A glaucoma characterized by closure of the anterio..[+]
eclampsia
Postpartum eclampsia; Eclampsia in puerperium (dis.. [+]
A pre-eclampsia characterized by the presence of s..[+]
exfoliation syndrome
Pseudoexfoliation syndrome; Pseudoexfoliation glau.. [+]
A phacogenic glaucoma that is characterized by ope..[+]
Addison's disease
primary hypoadrenalism; primary adrenocortical ins.. [+]
An adrenal cortical hypofunction that is character..[+]
inclusion conjunctivitis
Paratrachoma; adult inclusion conjunctivitis; Chla.. [+]
A commensal bacterial infectious disease that resu..[+]
lymphogranuloma venereum
Poradenitis inguinale; Durand-Nicolas-Favre diseas.. [+]
A commensal bacterial infectious disease that resu..[+]
bird fancier's lung
pigeon breeder's lung; poultry worker's lung; Avia.. [+]
An extrinsic allergic alveolitis which is caused b..[+]
red color blindness
Protanopia; Protan defect
n_a
somatization disorder
Polysomatising disorder; Briquet's disorder; Somat.. [+]
A somatoform disorder that involves persistently c..[+]
alcoholic liver cirrhosis
Portal cirrhosis; Alcoholic Cirrhosis; Laennec's c.. [+]
n_a
malignant parietal pleura tumor
primary malignant neoplasm of parietal pleura; pri.. [+]
n_a
malignant visceral pleura tumor
primary malignant neoplasm of visceral pleura; pri.. [+]
n_a
acute poststreptococcal glomerulonephritis
Post-Streptococcal Glomerulonephritis
n_a
median rhomboid glossitis
Persistent tuberculum impar; Persistent tuberculum.. [+]
n_a
Noonan syndrome with multiple lentigines
Progressive cardiomyopathic lentiginosis; Generali.. [+]
A RASopathy that is characterized by autosomal dom..[+]
1 articles
systemic primary carnitine deficiency disease
primary carnitine deficiency; carnitine transporte.. [+]
An amino acid metabolic disorder that involves def..[+]
Legg-Calve-Perthes disease
Perthes disease; pseudocoxalgia; Pseudocoxalgia; P.. [+]
An osteochondrosis that results_in death and fract..[+]
46,XY sex reversal
Pure gonadal dysgenesis 46,XY; 46,XY SEX REVERSAL; .. [+]
A gonadal dysgenesis that is characterized by a no..[+]
hypokalemic periodic paralysis
Periodic paralysis I; periodic hypokalemic paralys.. [+]
n_a
5 articles
cholesterol ester storage disease
partial lysosomal acid lipase deficiency; partial .. [+]
A lysosomal acid lipase deficiency characterized b..[+]
beta-ketothiolase deficiency
peroxisomal thiolase deficiency; peroxisomal thiol.. [+]
An amino acid metabolic disorder characterized by ..[+]
Greig cephalopolysyndactyly syndrome
polysyndactyly with peculiars skull shape
An acrocephalosyndactylia that has_material_basis_..[+]
2 articles
benzylpenicillin allergy
penicillin G allergy; benzyl benicillin allergy; b.. [+]
A beta-lactam allergy that has_allergic_trigger be..[+]
thiopental allergy
pentothiobarbital allergy; penthiobarbital allergy.. [+]
A drug allergy that has_allergic_trigger thiopenta..[+]

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