Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Armfield syndrome |
syndromic X-linked mental retardation Armfield typ..
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A syndromic X-linked intellectual disability chara..[+]
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hydrolethalus syndrome |
Salonen-Herva-Norio syndrome
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A syndrome characterized by multiple fetal develop..[+]
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2 articles | |
cerebral creatine deficiency syndrome 1 |
SLC6A8 deficiency; CEREBRAL CREATINE DEFICIENCY SY..
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A cerebral creatine deficiency syndrome that is ch..[+]
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1 articles | |
generalized dystonia |
symptomatic torsion dystonia; Dystonia 12; dystoni..
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A dystonia that affects most or all of the body.
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cervical dystonia |
spasmodic torticollis
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A focal dystonia that is characterized by simultan..[+]
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Troyer syndrome |
A hereditary spastic paraplegia that is characteri..[+]
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autosomal recessive spinocerebellar ataxia 10 |
SCAR10
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An autosomal recessive cerebellar ataxia that is c..[+]
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X-linked severe combined immunodeficiency |
SCID-X1; thymic epithelial hypoplasia; XSCID; X-Li..
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A severe combined immunodeficiency that is a X-lin..[+]
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musculoskeletal system cancer |
skeletal system cancer
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An organ system cancer located_in the muscular and..[+]
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8 articles | 8 matches |
connective tissue benign neoplasm |
soft tissue benign neoplasm; tumor of the soft tis..
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A musculoskeletal system benign neoplasm that is l..[+]
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alpha chain disease |
Seligmann's disease
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A heavy chain disease that results from an overpro..[+]
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astereognosia |
somatosensory agnosia
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An agnosia that is the loss of the ability to reco..[+]
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childhood spinal muscular atrophy |
A spinal muscular atrophy that is associated with ..[+]
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1 articles | ||
Kennedy's disease |
A spinal muscular dystrophy that has_material_basi..[+]
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1 articles | ||
Renpenning syndrome |
An intellectual disability that is characterized b..[+]
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1 articles | 18 matches | |
intracranial berry aneurysm |
saccular cerebral aneurysm; familial intracranial ..
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An intracranial aneurysm with a characteristic rou..[+]
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Mast syndrome |
SPG21; autosomal recessive spastic paraplegia 21; ..
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A hereditary spastic paraplegia associated with de..[+]
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MASA syndrome |
SPG1; hereditary spastic paraplegia 1; L1 syndrome..
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A hereditary spastic paraplegia that is characteri..[+]
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Ohdo syndrome, SBBYS variant |
A Ohdo syndrome that is characterized by blepharop..[+]
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cold-induced sweating syndrome |
Sohar-Crisponi syndrome; Crisponi syndrome
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A syndrome that is characterized by profuse sweati..[+]
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glucocorticoid-induced osteoporosis |
steroid-induced osteoporosis
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An osteoporosis caused by chronic glucocorticoid u..[+]
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hypoparathyroidism-retardation-dysmorphism syndrome |
Sanjad-Sakati syndrome; hypoparathyroidism with sh..
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A syndrome characterized by permanent parathyroid ..[+]
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Galloway-Mowat syndrome 1 |
SCAR5; Galloway syndrome; nephrosis-microcephaly s..
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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2 articles | 21 matches |
orofaciodigital syndrome III |
Sugarman syndrome
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An orofaciodigital syndrome that is characterized ..[+]
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chromosome 1p36 deletion syndrome |
subtelomeric 1p36 deletion; 1p36 deletion syndrome..
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A chromosomal deletion syndrome that has_material_..[+]
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gelatinous drop-like corneal dystrophy |
subepithelial amyloidosis of the cornea; primary f..
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An epithelial and subepithelial dystrophy that is ..[+]
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Meesmann corneal dystrophy |
Stocker-Holt dystrophy; MECD; juvenile hereditary ..
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An epithelial and subepithelial dystrophy that is ..[+]
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posterior polymorphous corneal dystrophy |
Schlichting dystrophy; PPCD; hereditary polymorphu..
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A corneal dystrophy that is characterized by chang..[+]
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EAST syndrome |
seizures, sensorineural deafness, ataxia, mental r..
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A syndrome characterized by seizures, sensorineura..[+]
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4 articles | |
tomato allergy |
Solanum lycopersicum fruit allergy
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A fruit allergy triggered by Solanum lycopersicum ..[+]
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Atlantic salmon allergy |
Salmo salar fish allergy
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A fish allergy triggered by Salmo salar.
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green mud crab allergy |
Scylla paramamosain allergy
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A crustacean allergy triggered by Scylla paramamos..[+]
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atypical chronic myeloid leukemia, BCR-ABL1 negative |
A myelodysplastic myeloproliferative neoplasm char..[+]
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ulnar-mammary syndrome |
Schinzel syndrome; Pallister ulnar-mammary syndrom..
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A syndrome that is characterized by posterior limb..[+]
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1 articles | |
recessive dystrophic epidermolysis bullosa |
severe generalized recessive dystrophic epidermoly..
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An epidermolysis bullosa dystrophica characterized..[+]
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anterior segment dysgenesis |
sclerocornea with other ocular anomalies; anterior..
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An eye disease that is characterized by iris hypop..[+]
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hyperekplexia |
startle disease; congenital stiff man syndrome; fa..
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A nervous system disease characterized by an exagg..[+]
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6 articles | |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
severe T-cell immunodeficiency-congenital alopecia..
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A severe combined immunodeficiency characterized b..[+]
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cleft lip-palate-ectodermal dysplasia syndrome |
syndactyly-ectodermal dysplasia-cleft/lip palate; ..
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A syndrome characterized by cleft lip, cleft palat..[+]
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MEHMO syndrome |
A syndromic X-linked intellectual disability chara..[+]
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isolated growth hormone deficiency type IA |
sexual ateleiotic dwarfism; autosomal recessive is..
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An isolated growth hormone deficiency characterize..[+]
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bullous congenital ichthyosiform erythroderma |
superficial epidermolytic ichthyosis; ichthyosis b..
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An ichthyosis characterized by congenital erythema..[+]
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X-linked spermatogenic failure 2 |
SPGFX2
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A spermatogenic failure that is characterized by m..[+]
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Y-linked spermatogenic failure 1 |
SPGFY1; type I Sertoli cell-only syndrome; Y-linke..
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A Sertoli cell-only syndrome that has_material_bas..[+]
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Y-linked spermatogenic failure 2 |
SPGFY2; nonobstructive Y-linked spermatogenic fail..
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A spermatogenic failure that is characterized by n..[+]
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X-linked spermatogenic failure 1 |
SPGFX1
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A Sertoli cell-only syndrome characterized by X-li..[+]
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benign recurrent intrahepatic cholestasis |
Summerskill-Walshe-Tygstrup syndrome; BRIC
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An intrahepatic cholestasis characterized by inter..[+]
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benign recurrent intrahepatic cholestasis 1 |
Summerskill syndrome; BRIC type 1; BRIC1
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A benign recurrent intrahepatic cholestasis charac..[+]
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primary coenzyme Q10 deficiency 4 |
A primary coenzyme Q10 deficiency that has_materia..[+]
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X-linked Emery-Dreifuss muscular dystrophy 1 |
scapuloperoneal syndrome, X-linked; EDMD1; EMD1; E..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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