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Disease	Synonyms	Description	Articles
pyruvate kinase deficiency of red cells	pyruvate kinase deficiency of erythrocyte; PK defi.. [+] pyruvate kinase deficiency of erythrocyte; PK deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency [-]	A congenital nonspherocytic hemolytic anemia that ..[+] A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. [-]
preterm premature rupture of the membranes	PPROM	A female reproductive system disease characterized..[+] A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. [-]
Prinzmetal angina	Prinzmetal's angina; Prinzmetal's variant angina; .. [+] Prinzmetal's variant angina; Prinzmetal's angina; angina inversa; variant angina; variant angina pectoris [-]	A coronary artery vasospasm characterized by spasm..[+] A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. [-]
postural orthostatic tachycardia syndrome	postural tachycardia syndrome due to NET deficienc.. [+] postural tachycardia syndrome due to NET deficiency; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
partial trisomy distal 4q	Partial Trisomy 4q Syndrome; Chromosome 4, Partial.. [+] Partial Trisomy 4q Syndrome; Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Distal 4q Trisomy; Dup(4q) Syndrome, Partial; Duplication 4q Syndrome, Partial [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. [-]
palmoplantar keratoderma and congenital alopecia 1	PPKCA Stevanovic type; PPKCA1; PPK-CA, Stevanovic .. [+] PPKCA1; PPKCA Stevanovic type; PPK-CA, Stevanovic type; palmoplantar keratoderma and congenital alopecia, Stevanovic type; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. [-]
palmoplantar keratoderma and congenital alopecia 2	PPK-CA, Wallis type; PPKCA Wallis type; PPKCA2; pa.. [+] PPKCA2; PPKCA Wallis type; PPK-CA, Wallis type; palmoplantar keratoderma and congenital alopecia, Wallis type; autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; autosomal recessive palmoplantar keratoderma and congenital alopecia; CASS; cataract-alopecia-sclerodactyly syndrome [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. [-]
pentosuria	PNTSU; essential pentosuria; L-xylulose reductase .. [+] PNTSU; essential pentosuria; L-xylulose reductase deficiency; L-xylulosuria; xylitol dehydrogenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
postaxial acrofacial dysostosis	POADS; Postaxial acrodysostosis; acrofacial dysost.. [+] Postaxial acrodysostosis; POADS; acrofacial dysostosis, Genee-Wiedmann type; Miller syndrome; mandibulfacial dysostosis with postaxial limb anomalies [-]	A syndrome characterized by severe micrognathia, c..[+] A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. [-]
phosphoribosylpyrophosphate synthetase superactivity	PRPS1 superactivity; PRPP synthetase superactivity.. [+] PRPS1 superactivity; PRPP synthetase superactivity [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. [-]
psoriasis 15	PSORS15	A psoriasis characterized by pustular psoriasis th..[+] A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. [-]
psoriasis 13	PSORS13	A psoriasis that has_material_basis_in variation i..[+] A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. [-]
pyridoxamine 5'-phosphate oxidase deficiency	pyridoxal phosphate-dependent seizures; pyridoxami.. [+] pyridoxal phosphate-dependent seizures; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxal phosphate-responsive seizures; pyridoxal 5'-phosphate-dependent epilepsy; PNPO-related neonatal epileptic encephalopathy; PNPO deficiency [-]	A vitamin metabolic disorder characterized by vita..[+] A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. [-]
Pitt-Hopkins-like syndrome 2	PTHSL2	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. [-]
primary failure of tooth eruption	PFE; primary retention of teeth; dental noneruptio.. [+] primary retention of teeth; PFE; dental noneruption; familial posterior openbite malocclusion; nonsyndromic primary failure of eruption; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
progressive myoclonus epilepsy 4	action myoclonus-renal failure syndrome; AMRF; EPM.. [+] action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
progressive myoclonus epilepsy 10	early-onset Lafora body disease; EPM10	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. [-]
progressive myoclonus epilepsy 3	Progressive myoclonus epilepsy type 3; Progressive.. [+] Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; PME type 3; CLN14 disease; neuronal ceroid lipofuscinosis 14; EPM3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
progressive myoclonus epilepsy 7	Progressive myoclonus epilepsy type 7; Progressive.. [+] Progressive myoclonus epilepsy type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; PME type 7; EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]	1 articles
progressive myoclonus epilepsy 1B	EPM1B	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. [-]
progressive myoclonus epilepsy 6	PME type 6; Progressive myoclonus epilepsy type 6; .. [+] Progressive myoclonus epilepsy type 6; PME type 6; EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
progressive myoclonus epilepsy 9	progressive myoclonus epilepsy type 9; progressive.. [+] progressive myoclonus epilepsy type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; PME type 9; EMP9 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. [-]
progressive myoclonus epilepsy 8	progressive myoclonus epilepsy type 8; progressive.. [+] progressive myoclonus epilepsy type 8; progressive myoclonic epilepsy due to CERS1 deficiency; PME type 8; EMP8 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. [-]
progressive myoclonus epilepsy 1A	EPM1A	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. [-]
palmoplantar keratoderma-deafness syndrome	palmoplantar hyperkeratosis-deafness syndrome; pal.. [+] palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma-hearing loss syndrome; PPK-deafness syndrome; palmoplantar keratoderma with deafness; keratoderma palmoplantar deafness [-]	A syndrome characterized by sensorineural hearing ..[+] A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	palmoplantar keratoderma with esophageal cancer; p.. [+] palmoplantar keratoderma with esophageal cancer; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Howell-Evans syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
progressive osseous heteroplasia	POH; ectopic ossification familial type; familial .. [+] POH; ectopic ossification familial type; familial ectopic ossification; osteoma cutis [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]
paroxysmal extreme pain disorder	PEPD; PEXPD; familial rectal pain; submandibular, .. [+] PEXPD; PEPD; familial rectal pain; submandibular, ocular and rectal pain with flushing [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. [-]	1 articles
paramyotonia congenita of Von Eulenburg	paramyotonia congenita; PMC; paralysis periodica p.. [+] PMC; paramyotonia congenita; paralysis periodica paramyotonica; Von Eulenburg paramyotonia congenita; Eulenburg disease; myotonia congenita intermittens [-]	A neuromuscular disease characterized by onset in ..[+] A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. [-]
parastremmatic dwarfism	parastremmatic dysplasia	An osteochondrodysplasia characterized by severe d..[+] An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
prolidase deficiency	peptidase deficiency; hyperimidodipeptiduria; imid.. [+] peptidase deficiency; hyperimidodipeptiduria; imidodipeptidase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. [-]
pigmented paravenous chorioretinal atrophy	PPRCA	An eye disease characterized by the presence of bo..[+] An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. [-]
plasminogen deficiency type I	hypoplasminogenemia	A syndrome characterized by decreased serum plasmi..[+] A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. [-]
pure hair and nail ectodermal dysplasia		An ectodermal dysplasia characterized by onychodys..[+] An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	PVHH; proliferative vasculopathy and hydranencepha.. [+] PVHH; proliferative vasculopathy and hydranencephaly/hydrocephaly; cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; Fowler syndrome; Fowler vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; hydranencephaly, Fowler type [-]	A syndrome characterized by hydranencephaly, glome..[+] A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. [-]
primary hyperoxaluria type 1	peroxisomal alanine-glyoxylate aminotransferase de.. [+] peroxisomal alanine-glyoxylate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; serine:pyruvate aminotransferase deficiency; glycolic aciduria; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
primary hyperoxaluria type 2	oxalosis IIglyoxylate reductase/hydroxypyruvate re.. [+] oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
primary hyperoxaluria type 3	primary hyperoxaluria type III; PH III; HP3	A primary hyperoxaluria characterized by recurring..[+] A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. [-]
Potocki-Shaffer syndrome	PSS; proximal 11p deletion syndrome; 11p11.2 delet.. [+] proximal 11p deletion syndrome; PSS; 11p11.2 deletion [-]	A syndrome characterized by craniofacial abnormali..[+] A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. [-]
proprotein convertase 1/3 deficiency	PCI deficiency; obesity and endocrinopathy due to .. [+] PCI deficiency; obesity and endocrinopathy due to impaired processing of prohormones; obesity due to prohormone convertase I deficiency; obesity with impaired prohormone processing [-]	A syndrome characterized by severe childhood obesi..[+] A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. [-]
partial cryptophthalmia	incomplete cryptophthalmos	An isolated cryptophthalmia characterized by an il..[+] An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. [-]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	pancreatic agenesis and congenital heart defects; .. [+] pancreatic agenesis and congenital heart defects; PACHD; congenital heart defects and other congenital anomalies; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; HDCA; Yorifuji-Okuno syndrome [-]	A syndrome characterized by partial pancreatic age..[+] A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. [-]	1 articles
Paganini-Miozzo syndrome	MRXSPM	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. [-]
primary ciliary dyskinesia 36	CILD36; X-linked primary ciliary dyskinesia 36	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. [-]
primary ciliary dyskinesia 44	primary ciliary dyskinesia 44 without situs invers.. [+] primary ciliary dyskinesia 44 without situs inversus; CILD44 [-]	A primary ciliary dyskinesia characterized by recu..[+] A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. [-]
primary ciliary dyskinesia 38	primary ciliary dyskinesia 38 with or without situ.. [+] primary ciliary dyskinesia 38 with or without situs inversus; CILD38 [-]	A primary ciliary dyskinesia characterized by sign..[+] A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. [-]
primary ciliary dyskinesia 40	primary ciliary dyskinesia 40 with or without situ.. [+] primary ciliary dyskinesia 40 with or without situs inversus; CILD40 [-]	A primary ciliary dyskinesia characterized by a su..[+] A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. [-]
primary ciliary dyskinesia 39	primary ciliary dyskinesia 39 with or without situ.. [+] primary ciliary dyskinesia 39 with or without situs inversus; CILD39 [-]	A primary ciliary dyskinesia characterized by cili..[+] A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. [-]
primary ciliary dyskinesia 42	primary ciliary dyskinesia 42 without situs invers.. [+] primary ciliary dyskinesia 42 without situs inversus; CILD42 [-]	A primary ciliary dyskinesia characterized by seve..[+] A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. [-]
primary ciliary dyskinesia 43	primary ciliary dyskinesia 43 with or without situ.. [+] primary ciliary dyskinesia 43 with or without situs inversus; CILD43 [-]	A primary ciliary dyskinesia characterized by redu..[+] A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. [-]

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