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Disease Synonyms Description Articles Phenotypes
Noonan syndrome 9
NS9;
A Noonan syndrome that has_material_basis_in heter..[+]
Noonan syndrome with multiple lentigines
Generalized lentiginosis (disorder); Gorlin syndro.. [+]
A RASopathy that is characterized by autosomal dom..[+]
1 articles
Noonan syndrome with multiple lentigines 1
LEOPARD syndrome 1;
A Noonan syndrome with multiple lentigines that ha..[+]
Noonan syndrome with multiple lentigines 2
LEOPARD syndrome 2;
A Noonan syndrome with multiple lentigines that ha..[+]
Noonan syndrome with multiple lentigines 3
LEOPARD syndrome 3;
A Noonan syndrome with multiple lentigines that ha..[+]
Noonan syndrome-like disorder with loose anagen hair
A RASopathy that is characterized by macrocephaly,..[+]
Noonan syndrome-like disorder with loose anagen hair 1
A Noonan-like syndrome with loose anagen hair that..[+]
Noonan syndrome-like disorder with loose anagen hair 2
A Noonan syndrome-like disorder with loose anagen ..[+]
Norman-Roberts syndrome
lissencephaly syndrome, Norman-Roberts type; lisse.. [+]
A lissencephaly that has_material_basis_in homozyg..[+]
Norrie disease
Norrie-Warburg disease; Episkopi blindness; atroph.. [+]
A syndrome characterized by degenerative and proli..[+]
1 articles
North Carolina macular dystrophy
central areolar pigment epithelial dystrophy; cent.. [+]
A retinal macular dystrophy characterized by limit..[+]
Norum disease
lecithin acyltransferase deficiency; LECITHIN:CHOL.. [+]
n_a
O'nyong'nyong fever
A viral infectious disease that results_in infecti..[+]
Ogden syndrome
N-alpha-acetyltransferase; N-terminal acetyltransf.. [+]
A syndrome characterized by postnatal growth failu..[+]
Oguchi disease-1
congenital stationary night blindness Oguchi type .. [+]
A congenital stationary night blindness characteri..[+]
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..[+]
Ohdo syndrome, SBBYS variant
Say-Barber-Biesecker-Young-Simpson syndrome; SBBYS.. [+]
A Ohdo syndrome that is characterized by blepharop..[+]
Oliver-McFarlane syndrome
long eyelashes-intellectual disability syndrome; O.. [+]
A syndrome characterized by trichomegaly, severe c..[+]
Ollier disease
DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast.. [+]
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..[+]
Opitz GBBB syndrome
Opitz G/BBB Syndrome; Opitz GBBB syndrome type I;
A syndrome that is a congenital midline malformati..[+]
Oropouche fever
A viral infectious disease that results in infecti..[+]
Osgood-Schlatter's disease
Osgood-Schlatter disease; Osteochondritis of tibia.. [+]
A bone inflammation disease that involves rupture ..[+]
PAPA syndrome
pyogenic arthritis, pyoderma gangrenosum and acne;.. [+]
A syndrome that is characterized by pyoderma gangr..[+]
PCWH syndrome
PCWH; Peripheral Demyelinating Neuropathy, Central.. [+]
A syndrome that is characterized by the associatio..[+]
PEHO syndrome
A brain disease that is characterized by extreme c..[+]
PFAPA syndrome
Marshall syndrome with periodic fever; Periodic fe.. [+]
An autoimmune disease that is characterized by rec..[+]
PHARC syndrome
polyneyropathy, hearing loss, ataxia, retinitis pi.. [+]
A syndrome that is characterized by polyneuropathy..[+]
PHGDH deficiency
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY;
A serine deficiency that has_material_basis_in def..[+]
PLACK syndrome
peeling skin with leukonychia, acral punctate kera.. [+]
An skin disease characterized by peeling skin in a..[+]
POEMS syndrome
A blood protein disease that is characterized by p..[+]
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 tumor (morphologic.. [+]
n_a
Paganini-Miozzo syndrome
MRXSPM;
A syndromic X-linked intellectual disability chara..[+]
Paget's disease of bone
Familial Paget's disease of bone; osteitis deforma.. [+]
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 3
Paget disease of bone-3;
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_..[+]
Paget's disease of bone 5
Familial osteoectasia; Hereditary hyperphosphatasi.. [+]
A Paget's disease of bone that is characterized by..[+]
Paget's disease of bone 6
Paget disease of bone-6;
A Paget's disease of bone that is characterized by..[+]
Pallister-Hall syndrome
Pallister-Hall syndrome (disorder); A syndrome tha.. [+]
A syndrome that is characterized by hypothalamic h..[+]
1 articles
Pancoast tumor
malignant Superior Sulcus tumor; Pancoast's syndro.. [+]
n_a
Papillon-Lefevre disease
Papillon-Lefvre syndrome (disorder); Papillon Lefe.. [+]
An ectodermal dysplasia that is characterized by p..[+]
Parkinson's disease
Parkinson disease; paralysis agitans;
A synucleinopathy that has_material_basis_in degen..[+]
16 articles
Parkinson's disease 1
autosomal dominant Parkinson disease 1; autosomal .. [+]
A late onset Parkinson's disease that has_material..[+]
Parkinson's disease 14
autosomal recessive Parkinson disease 14; autosoma.. [+]
A late-onset Parkinson disease that has_material_b..[+]

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