Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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rainbow trout allergy |
Oncorhynchus mykiss allergy
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A fish allergy triggered by Oncorhynchus mykiss.
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Ritscher-Schinzel syndrome |
3C syndrome; craniocerebellocardiac dysplasia; CCC..
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A syndrome characterized by craniofacial (prominen..[+]
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Ritscher-Schinzel syndrome 1 |
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A Ritscher-Schinzel syndrome that has_material_bas..[+]
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Ritscher-Schinzel syndrome 2 |
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A Ritscher-Schinzel syndrome that has_material_bas..[+]
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recessive dystrophic epidermolysis bullosa |
RDEB, Hallopeau-Siemens type; autosomal recessive ..
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An epidermolysis bullosa dystrophica characterized..[+]
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restrictive dermopathy |
hyperkeratosis-contracture syndrome; tight skin co..
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A skin disease characterized by thin, tightly adhe..[+]
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1 articles | |
right atrial isomerism |
asplenia with cardiovascular anomalies; Ivemark sy..
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A visceral heterotaxy that is characterized by com..[+]
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renal hypomagnesemia 3 |
renal hypomagnesemia type 3; familial primary hypo..
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A hypomagnesemia characterized by autosomal recess..[+]
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renal hypomagnesemia 5 with ocular involvement |
bilateral macular coloboma with hypercalciuria; fa..
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A hypomagnesemia characterized by autosomal recess..[+]
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renal hypomagnesemia 4 |
HOMG4
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A hypomagnesemia characterized by isolated hypomag..[+]
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renal hypomagnesemia 6 |
HOMG6
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A hypomagnesemia characterized by autosomal domina..[+]
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renal hypomagnesemia 2 |
autosomal dominant primary hypomagnesemia with hyp..
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A hypomagnesemia characterized by autosomal domina..[+]
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renal hypomagnesemia 7, with or without dilated cardiomyopathy |
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A hypomagnesemia characterized by renal salt wasti..[+]
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Revesz syndrome |
DKCA5; Dyskeratosis Congenita, Autosomal Dominant ..
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A dyskeratosis congenita that has_material_basis_i..[+]
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rippling muscle disease 1 |
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A muscle tissue disease characterized by electrica..[+]
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restrictive dermopathy 1 |
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A restrictive dermopathy that has_material_basis_i..[+]
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restrictive dermopathy 2 |
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A restrictive dermopathy that has_material_basis_i..[+]
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retinal macular dystrophy |
MCDR
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A macular degeneration characterized by non-progre..[+]
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retinal macular dystrophy 3 |
MCDR3
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A retinal macular dystrophy that has_material_basi..[+]
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retinal macular dystrophy 4 |
MCDR4
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A retinal macular dystrophy characterized by late-..[+]
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retinal macular dystrophy 2 |
MCDR2
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A retinal macular dystrophy characterized by slowl..[+]
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reducing body myopathy 1A |
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A myopathy that is characterized by by the presenc..[+]
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relapsed/refractory diffuse large B-cell lymphoma |
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A diffuse large B-cell lymphoma characterized by l..[+]
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renal hypoplasia |
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A kidney disease that is characterized by abnormal..[+]
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retinitis pigmentosa 81 |
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A retinitis pigmentosa that has_material_basis_in ..[+]
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retinitis pigmentosa 77 |
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A retinitis pigmentosa that has_material_basis_in ..[+]
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reducing body myopathy 1B |
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A myopathy that is characterized by by the presenc..[+]
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RASopathy |
RAS/mitogen-activated protein kinase syndrome
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A syndrome that has_material_basis_in mutations in..[+]
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8 articles | 24 matches |
RELA fusion-positive ependymoma |
C11orf95 fusion-positive supratentorial ependymoma..
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A supratentorial ependymoma that has_material_basi..[+]
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rapidly involuting congenital hemangioma |
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A hemangioma that is characterized by complete reg..[+]
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retinal dystrophy with leukodystrophy |
ACBD5 deficiency
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A peroxisomal disease that is characterized by a p..[+]
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RNASET2-deficient cystic leukoencephalopathy |
cystic leukoencephalopathy without megalencephaly; ..
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A leukodystrophy that is characterized by non-prog..[+]
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retinal cone dystrophy 3B |
cone dystrophy with supernormal rod responses
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A cone dystrophy that is characterized by onset in..[+]
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retinal cone dystrophy 4 |
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A cone dystrophy that has_material_basis_in homozy..[+]
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retinal cone dystrophy 1 |
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A cone dystrophy that is characterized as autosoma..[+]
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retinal cone dystrophy 3A |
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A cone dystrophy that is characterized by reduced ..[+]
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Rafiq syndrome |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
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An autosomal recessive intellectual developmental ..[+]
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rhizomelic chondrodysplasia punctate type 4 |
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A rhizomelic chondrodysplasia punctate that has_ma..[+]
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rosette-forming glioneuronal tumor |
Rosette-forming glioneuronal tumour; RGNT
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A central nervous system benign neoplasm that is c..[+]
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round cell sarcoma with EWSR1-non-ETS fusion |
Round Cell Sarcoma with EWSR1::non-ETS Fusion; Ewi..
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A small cell sarcoma that is characterized by the ..[+]
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round cell sarcoma with EWSR1-NFATC2 gene fusion |
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A round cell sarcoma with EWSR1-non-ETS fusion tha..[+]
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round cell sarcoma with EWSR1-PATZ1 gene fusion |
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A round cell sarcoma with EWSR1-non-ETS fusion tha..[+]
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round cell sarcoma with FUS-NFATC2 gene fusion |
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A round cell sarcoma with EWSR1-non-ETS fusion tha..[+]
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renal cell carcinoma with MiT translocations |
MiT family translocation renal cell carcinoma; MiT..
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A renal cell carcinoma that is characterized by pa..[+]
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renal coloboma syndrome |
renal-coloboma syndrome with macular abnormalities..
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A syndrome characterized by optic nerve coloboma a..[+]
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RIDDLE syndrome |
A syndrome that is characterized by increased radi..[+]
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retinitis pigmentosa 59 |
RP59
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A retinitis pigmentosa that has_material_basis_in ..[+]
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retinitis pigmentosa 20 |
RP20
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A retinitis pigmentosa that has_material_basis_in ..[+]
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retinitis pigmentosa 19 |
RP19
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A retinitis pigmentosa that has_material_basis_in ..[+]
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1 articles | |
retinitis pigmentosa 32 |
RP32
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A retinitis pigmentosa that has_material_basis_in ..[+]
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