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Disease	Synonyms	Description
Phelan-McDermid syndrome	22q13.3 deletion syndrome; monosomy 22q13 syndrome.. [+] 22q13.3 deletion syndrome; monosomy 22q13 syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. [-]
peroxisomal biogenesis disorder		A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. [-]
psoriasis 2		A psoriasis that has_material_basis_in heterozygou..[+] A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. [-]
peroxisome biogenesis disorder 1A	peroxisome biogenesis disorder 1A (Zellweger)	A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. [-]
peroxisome biogenesis disorder 2A	peroxisome biogenesis disorder 2A (Zellweger)	A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. [-]
peroxisome biogenesis disorder 6A	peroxisome biogenesis disorder 6A (Zellweger)	A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. [-]
peroxisome biogenesis disorder 8A	peroxisome biogenesis disorder 8A (Zellweger)	A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. [-]
PAPA syndrome	pyogenic arthritis, pyoderma gangrenosum and acne; .. [+] pyogenic arthritis, pyoderma gangrenosum and acne [-]	A syndrome that is characterised by pyoderma gangr..[+] A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. [-]
PEHO syndrome		A brain disease that is characterized by extreme c..[+] A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. [-]
pyridoxine-dependent epilepsy		An epilepsy that is characterized by intractable s..[+] An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. [-]
persistent mild asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. [-]
persistent severe asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. [-]
pemphigoid		An autoimmune disease of skin and connective tissu..[+] An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. [-]
pemphigus foliaceus	pemphigus foliaceous	A pemphigus that is characterized by blistering le..[+] A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. [-]
primary ovarian insufficiency 5		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. [-]
primary ovarian insufficiency 9		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. [-]
primary ovarian insufficiency 12		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. [-]
pleomorphic xanthoastrocytoma BRAF mutant		An anaplastic pleomorphic xanthoastrocytoma that h..[+] An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. [-]
polymicrogyria		A brain disease that is characterized by malformat..[+] A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). [-]
primary localized cutaneous amyloidosis 2		A primary cutaneous amyloidosis that has_material_..[+] A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. [-]
pretibial dystrophic epidermolysis bullosa		An epidermolysis bullosa dystrophica that is chara..[+] An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. [-]
Paget's disease of bone 2	Paget disease of bone-2	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. [-]
Paget's disease of bone 4	Paget disease of bone-4	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. [-]
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 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 heterozygous mutation in the MR1 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 [-]	An autosomal dominant disease characterized by the..[+] An autosomal dominant disease 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 that has_material_basis_in heterozygous mutation in the 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. [-]
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. [-]
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 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. [-]

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