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Disease Synonyms Description Articles Phenotypes
Oguchi disease-2
congenital stationary night blindness Oguchi type .. [+]
A congenital stationary night blindness characteri..[+]
Ohdo syndrome
Ohdo blepharophimosis syndrome;
A syndrome that is characterized by blepharophimos..[+]
Ohtahara syndrome
Early Infantile Epileptic Encephalopathy ; Early I.. [+]
A neonatoal period electroclinical syndrome that i..[+]
Ollier disease
DYSCHONDROPLASIA; Enchondromatosis with haemangiom.. [+]
A syndrome that is characterized by an asymmetric ..[+]
Omenn syndrome
combined immunodeficiency with hypereosinophilia;
A severe combined immunodeficiency that has_materi..[+]
Omsk hemorrhagic fever
A viral infectious disease that is a hemorrhagic f..[+]
Oropouche fever
A viral infectious disease that results in infecti..[+]
Osgood-Schlatter's disease
juvenile osteochondrosis of tibial tubercle; Osgoo.. [+]
A bone inflammation disease that involves rupture ..[+]
PAPA syndrome
pyogenic arthritis, pyoderma gangrenosum and acne;.. [+]
A syndrome that is characterised by pyoderma gangr..[+]
PCWH syndrome
Neurologic Waardenburg-Shah syndrome; PCWH; Periph.. [+]
An autosomal dominant disease characterized by the..[+]
PEHO syndrome
A brain disease that is characterized by extreme c..[+]
PHARC syndrome
polyneyropathy, hearing loss, ataxia, retinitis pi.. [+]
An autosomal recessive disease that is characteriz..[+]
PHGDH deficiency
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY;
A serine deficiency that has_material_basis_in def..[+]
POEMS syndrome
n_a
PSAT deficiency
Phosphoserine aminotransferase deficiency;
A serine deficiency that has_material_basis_in def..[+]
PSPH deficiency
Phosphoserine phosphatase deficiency; PSPHD;
A serine deficiency that has_material_basis_in def..[+]
PTEN hamartoma tumor syndrome
A syndrome characterized as a spectrum of disorder..[+]
Pacinian tumor
Pacinian Neurofibroma; Pacinian neurofibroma (diso.. [+]
n_a
Paget's disease of bone
Familial Paget's disease of bone; osseous Paget's .. [+]
A bone formation disease that has_material_basis_i..[+]
Paget's disease of bone 2
Paget disease of bone-2;
A Paget's disease of bone that has_material_basis_..[+]
Paget's disease of bone 4
Paget disease of bone-4;
A Paget's disease of bone that has_material_basis_..[+]
Pallister-Hall syndrome
Pallister-Hall syndrome (disorder);
A syndrome that is characterized by hypothalamic h..[+]
Pancoast tumor
malignant Superior Sulcus tumor; Pancoast's syndro.. [+]
n_a
Papillon-Lefevre disease
Papillon Lefevre syndrome; Papillon-Lefvre syndrom.. [+]
n_a
Parkinson disease 17
autosomal dominant Parkinson disease 17;
A late-onset Parkinson disease that has_material_b..[+]
Parkinson's disease
paralysis agitans; Parkinson disease;
A synucleinopathy that has_material_basis_in degen..[+]
Parkinson's disease 2
autosomal recessive juvenile Parkinson disease 2; .. [+]
An early-onset Parkinson's disease that has_materi..[+]
Parkinson's disease 21
PARK21; Parkinson disease 21;
A late onset Parkinson's disease characterized by ..[+]
Parkinson's disease 3
autosomal dominant Lewy body Parkinson disease 3; .. [+]
A late onset Parkinson's disease characterized by ..[+]
Parkinson's disease 7
autosomal recessive early-onset Parkinson disease .. [+]
An early-onset Parkinson's disease that has_materi..[+]
Partington syndrome
X-linked Russell-Silver syndrome;
A syndrome characterized by intellectual disabilit..[+]
Patau syndrome
D1 Trisomy ; Patau's syndrome; trisomy 13;
n_a
Pearson syndrome
Pearson Marrow-Pancreas Syndrome;
A mitochondrial metabolism disease that is charact..[+]
Pediculus humanus capitis infestation
head louse infestation; Pediculosis capitis (disor.. [+]
A lice infestation that involves colonization of t..[+]
Pediculus humanus corporis infestation
body louse infestation; Pediculus corporis; Pedicu.. [+]
A lice infestation that is a cutaneous condition c..[+]
Pelger-Huet anomaly
n_a
Pelizaeus-Merzbacher disease
diffuse familial brain sclerosis; HLD1; hypomyelin.. [+]
A hypomyelinating leukodystrophy characterized by ..[+]
Pendred Syndrome
congenital hypothyroidism due to dyshormonogenesis.. [+]
An autosomal recessive disease characterized by bi..[+]
Perlman syndrome
nephroblastomatosis - fetal ascites - macrosomia -.. [+]
A syndrome characterized by polyhydramnios with ne..[+]
Perrault syndrome
An autosomal recessive disesase that is characteri..[+]
Perry syndrome
parkinsonism with alveolar hypoventilation and men.. [+]
A syndrome characterized by parkinsonism, hypovent..[+]
Peters anomaly
A corneal disease characterized by a central corne..[+]
Peters plus syndrome
Krause-Kivlin syndrome; Peters anomaly-short limb .. [+]
A syndrome that is characterized by anterior chamb..[+]
Peutz-Jeghers syndrome
Colonic hamartomatous polyp; gastric Peutz-Jeghers.. [+]
n_a
Peyronie's disease
Induratio penis plastica; Peyronie disease; Peyron.. [+]
n_a
Pfeiffer syndrome
acrocephalosyndactylia type V;
An acrocephalosyndactylia that has_material_basis_..[+]
Phelan-McDermid syndrome
22q13.3 deletion syndrome; monosomy 22q13 syndrome.. [+]
A chromosomal deletion syndrome that has_material_..[+]
Phlebotomus fever
pappataci fever; Sandfly fever; Sandfly-borne arbo.. [+]
A viral infectious disease that results in infecti..[+]
Phlegmonous dacryocystitis
n_a
Pick's disease
Dementia in Pick's disease (disorder); LOBAR ATROP.. [+]
n_a

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