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Disease	Synonyms	Description	Articles	Phenotypes
progressive myoclonus epilepsy 3	CLN14 disease; neuronal ceroid lipofuscinosis 14; .. [+] CLN14 disease; neuronal ceroid lipofuscinosis 14; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3; 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. [-]
familial multiple nevi flammei	CMC; congenital capillary malformations; familial .. [+] congenital capillary malformations; CMC; familial multiple port-wine stains [-]	A capillary disease characterized by dark red to p..[+] A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. [-]
aplasia of lacrimal and salivary glands	congenital absence of lacrimal puncta and salivary.. [+] congenital absence of lacrimal puncta and salivary glands; ALSG [-]	A syndrome characterized by irritable eyes, epipho..[+] A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. [-]
retinal vasculopathy with cerebral leukodystrophy	CRV; hereditary cerebroretinal vasculopathy; retin.. [+] CRV; hereditary cerebroretinal vasculopathy; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL-S; RVCL; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena [-]	A vascular disease characterized by adult onset of..[+] A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. [-]
Weyers acrofacial dysostosis	Curry-Hall syndrome; acrofacial dysostosis, Weyers.. [+] Curry-Hall syndrome; acrofacial dysostosis, Weyers type; WAD; Weyers acrodental dysostosis [-]	An acrofacial dysostosis characterized by dental a..[+] An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. [-]
hereditary arterial and articular multiple calcification syndrome	calcification of joints and arteries; CALJA; arter.. [+] CALJA; calcification of joints and arteries; arterial calcification due to deficiency of CD73:ACDC; arterial calcification due to CD73 deficiency; arterial calcification and distal joint calcification; arterial calcification due to deficiency of CD73 [-]	A syndrome characterized by adult onset of calcifi..[+] A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	congestive cardiomyopathy with hypergonadotropic h.. [+] congestive cardiomyopathy with hypergonadotropic hypogonadism; cardiomyopathy eith primary testicular failure; cardiogenital syndrome; dilated cardiomyopathy with hypergonadotropic hypogonadism; Malouf syndrome; Najjar syndrome; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
Martsolf syndrome	cataract-intellectual disability-hypogonadism synd.. [+] cataract-intellectual disability-hypogonadism syndrome [-]	A syndrome characterized by intellectual deficit, ..[+] A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
Gordon Holmes syndrome	CAHH; cerebellar ataxia-hypogonadism syndrome; LHR.. [+] cerebellar ataxia-hypogonadism syndrome; CAHH; LHRH deficiency and ataxia; GDHS; luteinizing hormone-releasing hormone deficiency with ataxia [-]	An inherited metabolic disorder characterized by p..[+] An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. [-]
Freeman-Sheldon syndrome	craniocarpotarsal dystrophy; craniocarpotarsal dys.. [+] craniocarpotarsal dystrophy; craniocarpotarsal dysplasia; whistling face syndrome; whistling face-windmill vane hand syndrome [-]	A distal arthrogryposis characterized by microstom..[+] A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. [-]
distal arthrogryposis type 3	camptodactyly-cleft palate-clubfoot syndrome; DA3; .. [+] camptodactyly-cleft palate-clubfoot syndrome; DA3; distal arthrogryposis multiplex congenita type IIA; Gordon syndrome [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
Temtamy syndrome	craniofacial dysmorphism-coloboma-corpus callosum .. [+] craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; dysmorphism, corpus callosum agenesis and colobomas; Temtamy-Shalash syndrome [-]	A syndrome characterized by variable craniofacial ..[+] A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. [-]
ACTH-independent macronodular adrenal hyperplasia	Cushing syndrome due to macronodular adrenal hyper.. [+] Cushing syndrome due to macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; AIMAH; MMAD [-]	A primary hyperaldosteronism characterized by mult..[+] A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. [-]
ventriculomegaly - cystic kidney disease	cystic kidney disease with ventriculomegaly; conge.. [+] cystic kidney disease with ventriculomegaly; congenital nephrosis-cerebral ventriculomegaly syndrome; ventriculomegaly with cystic kidney disease; VMCKD [-]	A syndrome characterized by onset in utero of dila..[+] A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. [-]
ectodermal dysplasia 1	CST syndrome; Christ-Siemens-Touraine syndrome; ec.. [+] Christ-Siemens-Touraine syndrome; CST syndrome; ectodermal dysplasia 1, anhidrotic; ED1; HED1; hypohidrotic ectodermal dysplasia, X-Linked; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	cerebral proliferative glomeruloid vasculopathy; e.. [+] cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; Fowler syndrome; Fowler vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH; 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. [-]
enterokinase deficiency	congenital enteropathy due to enteropeptidase defi.. [+] congenital enteropathy due to enteropeptidase deficiency; congenital enterokinase deficiency; deficiency of enteropeptidase [-]	An intestinal disease characterized by early-onset..[+] An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. [-]
high molecular weight kininogen deficiency	congenital high-molecular-weight kininogen deficie.. [+] congenital high-molecular-weight kininogen deficiency; HMWK deficiency; Fitzgerald trait [-]	A blood coagulation disease characterized by defic..[+] A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. [-]
hereditary folate malabsorption	congenital folate malabsorption; congenital defect.. [+] congenital folate malabsorption; congenital defect of folate absorption [-]	A vitamin metabolic disorder characterized by impa..[+] A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. [-]
diffuse cystic renal dysplasia	CYSRD; renal dysplasia diffuse cystic; susceptibil.. [+] CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]	1 articles
hereditary mixed polyposis syndrome 1	colorectal adenoma and carcinoma 1; CRAC1; chromos.. [+] CRAC1; colorectal adenoma and carcinoma 1; chromosome 15q13-q14 duplication syndrome, 40-KB; HMPS1 [-]	A hereditary mixed polyposis syndrome that has_mat..[+] A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. [-]
Ayme-Gripp syndrome	cataracts, congenital, with sensorineural deafness.. [+] cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation; AYGRP [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. [-]
isolated cryptophthalmia	CRYPTOP; unilateral or bilateral isolated cryptoph.. [+] CRYPTOP; unilateral or bilateral isolated cryptophthalmos [-]	A cryptophthalmia characterized by absence of the ..[+] A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. [-]
Jacobsen Syndrome	chromosome 11q deletion syndrome; Jacobsen distal .. [+] chromosome 11q deletion syndrome; Jacobsen distal 11q deletion syndrome; partial 11q monosomy syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. [-]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	congenital pancreatic hypoplasia with diabetes mel.. [+] congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; congenital heart defects and other congenital anomalies; HDCA; PACHD; pancreatic agenesis and congenital heart defects; 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
X-linked deafness 3	congenital sensorineural X-linked deafness 4; DFN4.. [+] congenital sensorineural X-linked deafness 4; DFN4; DFNX3 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. [-]
X-linked deafness 2	conductive deafness with stapes fixation; conducti.. [+] conductive deafness with stapes fixation; conductive deafness 3 with stapes fixation; DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; mixed deafness with perilymphatic gusher [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
46,XX sex reversal 2	chromosome 17q24 dupication syndrome; SRXX2	A 46,XX sex reversal that has_material_basis_in he..[+] A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. [-]
X-linked cardiac valvular dysplasia	CVD1; Dystrophie valvulaire associee a FLNA; EDS 5.. [+] CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia; XMVD [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
X-linked properdin deficiency	complement factor properdin deficiency; CFPD	A complement deficiency characterized by decreased..[+] A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. [-]
46,XY sex reversal 4	chromosome 9p24.3 deletion syndrome; 46,XY gonadal.. [+] chromosome 9p24.3 deletion syndrome; 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; SRXY4 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. [-]
46,XY sex reversal 10	chromosome 17q24 deletion syndrome; SRXY10	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. [-]
syndromic microphthalmia 14	colobomatous microphthalmia-rhizomelic dysplasia s.. [+] colobomatous microphthalmia-rhizomelic dysplasia syndrome; MCOPS14; MCSKS; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome [-]	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. [-]
syndromic microphthalmia 9	clinical anophthalmia mild facial dysmorphism lung.. [+] clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; pulmonary agenesis microphthalmi and diaphragmatic defect; spear syndrome; Matthew-Wood syndrome [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. [-]
syndromic microphthalmia 2	cataract-microphthalmia-radiculomegaly-cardiac sep.. [+] cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2; microphthalmia cataracts radiculomegaly and septal heart defects; ANOP2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]	1 articles	14 matches
syndromic microphthalmia 13	colobomatous microphthalmia with microcephaly, sho.. [+] colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; MCOPS13; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome; Maine microphthalmos [-]	A syndromic microphthalmia characterized by colobo..[+] A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. [-]
methylmalonic acidemia and homocysteinemia cblX type	combined defect in adenosylcobalamin and methylcob.. [+] combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; mental retardation, X-linked 3; methylmalonic aciduria with homocystinuria, type cblX [-]	A methylmalonic acidemia characterized by onset in..[+] A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. [-]
syndactyly type 1	chromosome 2q35 duplication syndrome; SDTY1; synda.. [+] chromosome 2q35 duplication syndrome; SDTY1; syndactyly, type 1, with or without craniosynostosis [-]	A syndactyly characterized by complete or partial ..[+] A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. [-]
Abruzzo-Erickson syndrome	CHARGE-like syndrome, X-linked; cleft palate-colob.. [+] CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
X-linked spinocerebellar ataxia 2	cerebellar ataxia with extrapyramidal involvement .. [+] cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2 [-]	An X-linked cerebellar ataxia characterized by inf..[+] An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. [-]
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	CILD44; primary ciliary dyskinesia 44 without situ.. [+] CILD44; primary ciliary dyskinesia 44 without situs inversus [-]	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	CILD38; primary ciliary dyskinesia 38 with or with.. [+] CILD38; primary ciliary dyskinesia 38 with or without situs inversus [-]	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	CILD40; primary ciliary dyskinesia 40 with or with.. [+] CILD40; primary ciliary dyskinesia 40 with or without situs inversus [-]	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	CILD39; primary ciliary dyskinesia 39 with or with.. [+] CILD39; primary ciliary dyskinesia 39 with or without situs inversus [-]	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	CILD42; primary ciliary dyskinesia 42 without situ.. [+] CILD42; primary ciliary dyskinesia 42 without situs inversus [-]	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	CILD43; primary ciliary dyskinesia 43 with or with.. [+] CILD43; primary ciliary dyskinesia 43 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 45	CILD45; primary ciliary dyskinesia 45 without situ.. [+] CILD45; primary ciliary dyskinesia 45 without situs inversus [-]	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. [-]
primary ciliary dyskinesia 41	CILD41	A primary ciliary dyskinesia characterized by hype..[+] A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. [-]
AMME complex	chromosome Xq22.3 telomeric deletion syndrome; Alp.. [+] chromosome Xq22.3 telomeric deletion syndrome; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]

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