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Disease	Synonyms	Description
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; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy; Malouf syndrome; Najjar syndrome [-]	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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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 2	cataract-microphthalmia-radiculomegaly-cardiac sep.. [+] cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; ANOP2; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2 [-]	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. [-]
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	cleft palate-coloboma-deafness syndrome; CHARGE-li.. [+] cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome, X-linked [-]	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. [-]
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 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. [-]
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. [-]
immunodeficiency 16	combined immunodeficiency with impaired immunity t.. [+] combined immunodeficiency with impaired immunity to human herpes virus 8; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency due to OX40 deficiency; IMD16; OX40 deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]
immunodeficiency 21	combined immunodeficiency with susceptibility to m.. [+] combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 18	CD3-epsilon deficiency; IMD18	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. [-]
immunodeficiency 17	CD3-gamma deficiency; IMD17; immunodeficiency 17, .. [+] CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive [-]	A T cell deficiency characterized by partial T-cel..[+] A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. [-]
immunodeficiency 55	combined immunodeficiency due to GINS1 deficiency; .. [+] combined immunodeficiency due to GINS1 deficiency; IMD55 [-]	A combined immunodeficiency characterized by intra..[+] A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. [-]
immunodeficiency 50	combined immunodeficiency due to Moesin deficiency.. [+] combined immunodeficiency due to Moesin deficiency; CID due to Moesin deficiency; IMD50; immunodeficiency 50 X linked recessive; MSN-related combined immunodeficiency; X-linked Moesin-associated immunodeficiency [-]	A combined immunodeficiency characterized by profo..[+] A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. [-]
primary coenzyme Q10 deficiency 9	COQ10D9	A coenzyme Q10 deficiency disease characterized by..[+] A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. [-]
Schinzel type phocomelia	congenital absence of ulna and fibula; AARRS; abse.. [+] congenital absence of ulna and fibula; AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; Schinzel phocomelia syndrome; severe limb deficit [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]
spondylometaphyseal dysplasia Sedaghatian type	congenital lethal metaphyseal chondrodysplasia; Se.. [+] congenital lethal metaphyseal chondrodysplasia; Sedaghatian chondrodysplasia; SMDS [-]	A spondylometaphyseal dysplasia characterized by n..[+] A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. [-]
muscular dystrophy-dystroglycanopathy type B15	congenital muscular dystrophy DPM3-related; MDDGB1.. [+] congenital muscular dystrophy DPM3-related; MDDGB15 [-]	A muscular dystrophy-dystroglycanopathy type B tha..[+] A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. [-]
muscular dystrophy-dystroglycanopathy type B4	congenital muscular dystrophy FKTN-related; MDDGB4.. [+] congenital muscular dystrophy FKTN-related; MDDGB4 [-]	A muscular dystrophy-dystroglycanopathy type B cha..[+] A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. [-]
muscular dystrophy-dystroglycanopathy type B2	congenital muscular dystrophy POMT2-related; MDDGB.. [+] congenital muscular dystrophy POMT2-related; MDDGB2 [-]	A muscular dystrophy-dystroglycanopathy type B tha..[+] A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. [-]

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