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Disease	Synonyms	Description	Articles	Phenotypes
Paget's disease of bone 5	Paget disease of bone-5; Familial osteoectasia; He.. [+] Paget disease of bone-5; Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
Paget's disease of bone 6	Paget disease of bone-6	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. [-]
primary progressive aphasia		A frontotemporal dementia that characterized by th..[+] A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. [-]
progressive non-fluent aphasia	Agramatic variant of primary progressive aphasia; .. [+] Agramatic variant of primary progressive aphasia; nonfluent agrammatic PPA [-]	A primary progressive aphasia that is characterize..[+] A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. [-]
poorly differentiated chordoma		A chordoma that is characterized by loss of SMARCB..[+] A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. [-]
Peroxisome biogenesis disorder 4B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. [-]
Peroxisome biogenesis disorder 5B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. [-]
Peroxisome biogenesis disorder 6B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. [-]
Peroxisome biogenesis disorder 7B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. [-]
Peroxisome biogenesis disorder 8B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. [-]
Peroxisome biogenesis disorder 9B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. [-]
Peroxisome biogenesis disorder 11B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. [-]
Peroxisome biogenesis disorder 10B		A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. [-]
PFAPA syndrome	Periodic fever-aphtous stomatitis-pharyngitis-aden.. [+] Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome; Marshall syndrome with periodic fever [-]	An autoimmune disease that is characterized by rec..[+] An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. [-]
progressive pseudorheumatoid arthropathy of childhood	spondyloepiphyseal dysplasia tarda-progressive art.. [+] spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [-]	A osteochondrodysplasia characterized by autosomal..[+] A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. [-]
paroxysmal nonkinesigenic dyskinesia 2		A dystonia characterized by attacks of dystonic or..[+] A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. [-]
paroxysmal nonkinesigenic dyskinesia 1		A dystonia that is characterized by attacks of dys..[+] A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. [-]
PCWH syndrome	Peripheral demyelinating neuropathy-central dysmye.. [+] Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH; Neurologic Waardenburg-Shah syndrome [-]	A syndrome that is characterized by the associatio..[+] A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. [-]
primary ciliary dyskinesia 1	primary ciliary dyskinesia 1 with or without situs.. [+] primary ciliary dyskinesia 1 with or without situs inversus; CILD1 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. [-]	1 articles
primary ciliary dyskinesia 21	primary ciliary dyskinesia 21 without situs invers.. [+] primary ciliary dyskinesia 21 without situs inversus; CILD21 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. [-]
primary ciliary dyskinesia 22	primary ciliary dyskinesia 22 with or without situ.. [+] primary ciliary dyskinesia 22 with or without situs inversus; CILD22 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. [-]	1 articles
primary ciliary dyskinesia 14	primary ciliary dyskinesia 14 with or without situ.. [+] primary ciliary dyskinesia 14 with or without situs inversus; CILD14 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. [-]
primary ciliary dyskinesia 3	primary ciliary dyskinesia 3 with or without situs.. [+] primary ciliary dyskinesia 3 with or without situs inversus; CILD3 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. [-]
primary ciliary dyskinesia 29	primary ciliary dyskinesia 29 without situs invers.. [+] primary ciliary dyskinesia 29 without situs inversus; CILD29 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. [-]
primary ciliary dyskinesia 12	primary ciliary dyskinesia 12 without situs invers.. [+] primary ciliary dyskinesia 12 without situs inversus; CILD12 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. [-]
primary ciliary dyskinesia 11	primary ciliary dyskinesia 11 without situs invers.. [+] primary ciliary dyskinesia 11 without situs inversus; CILD11 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. [-]
primary ciliary dyskinesia 32	primary ciliary dyskinesia 32 without situs invers.. [+] primary ciliary dyskinesia 32 without situs inversus; CILD32 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. [-]
primary ciliary dyskinesia 18	primary ciliary dyskinesia 18 with or without situ.. [+] primary ciliary dyskinesia 18 with or without situs inversus; CILD18 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. [-]
primary ciliary dyskinesia 7	primary ciliary dyskinesia 7 with or without situs.. [+] primary ciliary dyskinesia 7 with or without situs inversus; CILD7 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. [-]
primary ciliary dyskinesia 6	CILD6	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. [-]
primary ciliary dyskinesia 28	primary ciliary dyskinesia 28 with or without situ.. [+] primary ciliary dyskinesia 28 with or without situs inversus; CILD28 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. [-]
primary ciliary dyskinesia 19	primary ciliary dyskinesia 19 with or without situ.. [+] primary ciliary dyskinesia 19 with or without situs inversus; CILD19 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. [-]
primary ciliary dyskinesia 23	primary ciliary dyskinesia 23 with or without situ.. [+] primary ciliary dyskinesia 23 with or without situs inversus; CILD23 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. [-]
primary ciliary dyskinesia 34	primary ciliary dyskinesia 34 without situs invers.. [+] primary ciliary dyskinesia 34 without situs inversus; CILD34 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. [-]
primary ciliary dyskinesia 27	primary ciliary dyskinesia 27 without situs invers.. [+] primary ciliary dyskinesia 27 without situs inversus; CILD27 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. [-]
primary ciliary dyskinesia 10	primary ciliary dyskinesia 10 with or without situ.. [+] primary ciliary dyskinesia 10 with or without situs inversus; CILD10 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. [-]
primary ciliary dyskinesia 16	primary ciliary dyskinesia 16 with or without situ.. [+] primary ciliary dyskinesia 16 with or without situs inversus; CILD16 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. [-]
primary ciliary dyskinesia 4	primary ciliary dyskinesia 4 with or without situs.. [+] primary ciliary dyskinesia 4 with or without situs inversus; CILD4 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. [-]
primary ciliary dyskinesia 25	primary ciliary dyskinesia 25 with or without situ.. [+] primary ciliary dyskinesia 25 with or without situs inversus; CILD25 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. [-]
primary ciliary dyskinesia 8	primary ciliary dyskinesia 8 with or without situs.. [+] primary ciliary dyskinesia 8 with or without situs inversus; CILD8 [-]	A primary ciliary dyskinesia that has_material_bas..[+] A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. [-]
primary ciliary dyskinesia 5	primary ciliary dyskinesia 5 without situs inversu.. [+] primary ciliary dyskinesia 5 without situs inversus; CILD5 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. [-]
primary ciliary dyskinesia 13	primary ciliary dyskinesia 13 with or without situ.. [+] primary ciliary dyskinesia 13 with or without situs inversus; CILD13 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. [-]
primary ciliary dyskinesia 33	primary ciliary dyskinesia 33 without situs invers.. [+] primary ciliary dyskinesia 33 without situs inversus; CILD33 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. [-]
primary ciliary dyskinesia 35	primary ciliary dyskinesia 35 with or without situ.. [+] primary ciliary dyskinesia 35 with or without situs inversus; CILD35 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. [-]
primary ciliary dyskinesia 17	primary ciliary dyskinesia 17 with or without situ.. [+] primary ciliary dyskinesia 17 with or without situs inversus; CILD17 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. [-]
primary ciliary dyskinesia 9	primary ciliary dyskinesia 9 with or without situs.. [+] primary ciliary dyskinesia 9 with or without situs inversus; CILD9 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. [-]
primary ciliary dyskinesia 15	primary ciliary dyskinesia 15 with or without situ.. [+] primary ciliary dyskinesia 15 with or without situs inversus; CILD15 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. [-]	1 articles	4 matches
primary ciliary dyskinesia 30	primary ciliary dyskinesia 30 without situs invers.. [+] primary ciliary dyskinesia 30 without situs inversus; CILD30 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. [-]
primary ciliary dyskinesia 20	primary ciliary dyskinesia 20 with or without situ.. [+] primary ciliary dyskinesia 20 with or without situs inversus; CILD20 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. [-]
primary ciliary dyskinesia 2	primary ciliary dyskinesia 2 with or without situs.. [+] primary ciliary dyskinesia 2 with or without situs inversus; CILD2 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. [-]

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