Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Phelan-McDermid syndrome |
22q13.3 deletion syndrome; monosomy 22q13 syndrome..
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A chromosomal deletion syndrome that has_material_..[+]
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peroxisomal biogenesis disorder |
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A peroxisomal biogenesis disorder that has_materia..[+]
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psoriasis 2 |
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A psoriasis that has_material_basis_in heterozygou..[+]
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peroxisome biogenesis disorder 1A |
peroxisome biogenesis disorder 1A (Zellweger)
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A peroxisomal biogenesis disorder that has_materia..[+]
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peroxisome biogenesis disorder 2A |
peroxisome biogenesis disorder 2A (Zellweger)
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A peroxisomal biogenesis disorder that has_materia..[+]
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peroxisome biogenesis disorder 6A |
peroxisome biogenesis disorder 6A (Zellweger)
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A peroxisomal biogenesis disorder that has_materia..[+]
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peroxisome biogenesis disorder 8A |
peroxisome biogenesis disorder 8A (Zellweger)
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A peroxisomal biogenesis disorder that has_materia..[+]
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PAPA syndrome |
pyogenic arthritis, pyoderma gangrenosum and acne; ..
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A syndrome that is characterised by pyoderma gangr..[+]
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PEHO syndrome |
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A brain disease that is characterized by extreme c..[+]
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pyridoxine-dependent epilepsy |
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An epilepsy that is characterized by intractable s..[+]
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persistent mild asthma |
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A chronic asthma that is characterized by severity..[+]
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persistent severe asthma |
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A chronic asthma that is characterized by severity..[+]
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pemphigoid |
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An autoimmune disease of skin and connective tissu..[+]
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pemphigus foliaceus |
pemphigus foliaceous
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A pemphigus that is characterized by blistering le..[+]
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primary ovarian insufficiency 5 |
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A primary ovarian insufficiency that has_material_..[+]
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primary ovarian insufficiency 9 |
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A primary ovarian insufficiency that has_material_..[+]
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primary ovarian insufficiency 12 |
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A primary ovarian insufficiency that has_material_..[+]
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pleomorphic xanthoastrocytoma BRAF mutant |
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An anaplastic pleomorphic xanthoastrocytoma that h..[+]
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polymicrogyria |
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A brain disease that is characterized by malformat..[+]
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primary localized cutaneous amyloidosis 2 |
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A primary cutaneous amyloidosis that has_material_..[+]
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pretibial dystrophic epidermolysis bullosa |
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An epidermolysis bullosa dystrophica that is chara..[+]
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Paget's disease of bone 2 |
Paget disease of bone-2
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A Paget's disease of bone that has_material_basis_..[+]
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Paget's disease of bone 4 |
Paget disease of bone-4
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A Paget's disease of bone that has_material_basis_..[+]
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progressive pseudorheumatoid arthropathy of childhood |
spondyloepiphyseal dysplasia tarda-progressive art..
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A osteochondrodysplasia characterized by autosomal..[+]
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paroxysmal nonkinesigenic dyskinesia 2 |
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A dystonia characterized by attacks of dystonic or..[+]
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paroxysmal nonkinesigenic dyskinesia 1 |
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A dystonia characterized by attacks of dystonic or..[+]
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PCWH syndrome |
Peripheral demyelinating neuropathy-central dysmye..
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An autosomal dominant disease characterized by the..[+]
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primary ciliary dyskinesia 1 |
primary ciliary dyskinesia 1 with or without situs..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 21 |
primary ciliary dyskinesia 21 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 22 |
primary ciliary dyskinesia 22 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 14 |
primary ciliary dyskinesia 14 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 3 |
primary ciliary dyskinesia 3 with or without situs..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 29 |
primary ciliary dyskinesia 29 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 12 |
primary ciliary dyskinesia 12 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 11 |
primary ciliary dyskinesia 11 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 32 |
primary ciliary dyskinesia 32 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 18 |
primary ciliary dyskinesia 18 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 7 |
primary ciliary dyskinesia 7 with or without situs..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 6 |
CILD6
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 28 |
primary ciliary dyskinesia 28 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 19 |
primary ciliary dyskinesia 19 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 23 |
primary ciliary dyskinesia 23 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 34 |
primary ciliary dyskinesia 34 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 27 |
primary ciliary dyskinesia 27 without situs invers..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 10 |
primary ciliary dyskinesia 10 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 16 |
primary ciliary dyskinesia 16 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 4 |
primary ciliary dyskinesia 4 with or without situs..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 25 |
primary ciliary dyskinesia 25 with or without situ..
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A primary ciliary dyskinesia that is characterized..[+]
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primary ciliary dyskinesia 8 |
primary ciliary dyskinesia 8 with or without situs..
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A primary ciliary dyskinesia that has_material_bas..[+]
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primary ciliary dyskinesia 5 |
primary ciliary dyskinesia 5 without situs inversu..
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A primary ciliary dyskinesia that is characterized..[+]
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