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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
prune belly syndrome
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Obrisnksy syndrome; abdominal muscle deficiency sy..
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Obrisnksy syndrome; abdominal muscle deficiency syndrome; Eagle-Barret syndrome
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A syndrome that is characterized by megacystis wit.. [+]
A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
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Schwartz-Jampel syndrome 1
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osteochondromuscular dystrophy; Aberfeld syndrome; ..
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osteochondromuscular dystrophy; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome
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An autosomal recessive disease characterized by ne.. [+]
An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
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renal coloboma syndrome
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optic coloboma, vesicoureteral reflux and renal an..
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optic coloboma, vesicoureteral reflux and renal anomalies; CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities
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A syndrome characterized by optic nerve coloboma a.. [+]
A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
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Charcot-Marie-Tooth disease X-linked recessive 5
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optic atrophy, polyneuropathy, and deafness; Charc..
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optic atrophy, polyneuropathy, and deafness; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; CMTX5; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5
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A Charcot-Marie-Tooth disease X-linked that has_ma.. [+]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
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autosomal dominant osteopetrosis 1
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OPTA1; autosomal dominant osteopetrosis type 1
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An osteopetrosis characterized by autosomal domina.. [+]
An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
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autosomal dominant osteopetrosis 2
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OPTA2; osteopetrosis autosomal dominant type 2; Al..
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osteopetrosis autosomal dominant type 2; OPTA2; Albers-Schonberg osteopetrosis; autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II
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An osteopetrosis characterized by autosomal domina.. [+]
An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
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autosomal recessive osteopetrosis 5
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OPTB5; infantile malignant osteopetrosis 3
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
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autosomal recessive osteopetrosis 8
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OPTB8
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
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autosomal recessive osteopetrosis 3
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OPTB3; osteopetrosis with renal tubular acidosis; ..
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osteopetrosis with renal tubular acidosis; OPTB3; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
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autosomal recessive osteopetrosis 1
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OPTB1; autosomal recessive Albers-Schonberg diseas..
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OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
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autosomal recessive osteopetrosis 2
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OPTB2; osteoclast-poor osteopetrosis; mild autosom..
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osteoclast-poor osteopetrosis; OPTB2; mild autosomal recessive form osteopetrosis
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
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autosomal recessive osteopetrosis 4
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OPTB4; infantile malignant osteopetrosis 2
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
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autosomal recessive osteopetrosis 6
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OPTB6; autosomal recessive osteopetrosis intermedi..
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OPTB6; autosomal recessive osteopetrosis intermediate form
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
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autosomal recessive osteopetrosis 7
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osteopetrosis-hypogammaglobulinemia syndrome; oste..
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osteopetrosis-hypogammaglobulinemia syndrome; osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
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brachydactyly type A6
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Osebold-Remondini syndrome; BDA6; brachymesophalan..
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Osebold-Remondini syndrome; BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
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A brachydactyly characterized by brachymesophalang.. [+]
A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.
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congenital bile acid synthesis defect 3
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oxysterol 7-alpha-hydroxylase deficiency; CBAS3
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A congenital bile acid synthesis defect characteri.. [+]
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
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postural orthostatic tachycardia syndrome
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orthostatic intolerance due to NET deficiency; orh..
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orthostatic intolerance due to NET deficiency; orhtostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; postural tachycardia syndrome due to NET deficiency; soldiers heart
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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.
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Kaufman oculocerebrofacial syndrome
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oculocerebrofacial syndrome, Kaufman type; blephar..
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oculocerebrofacial syndrome, Kaufman type; blepharophimosis ptosis intellectual disability syndrome; KOS
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A syndromic intellectual disability characterized .. [+]
A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
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linear nevus sebaceous syndrome
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organoid nevus syndrome; organoid nevus phakomatos..
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organoid nevus syndrome; organoid nevus phakomatosis; Jadassohn nevus phakomatosis; JNP; nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome
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A syndrome characterized by sebaceous nevi typical.. [+]
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
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Behr syndrome
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optic atrophy, infantile hereditary, Behr complica..
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optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Abortive cerebellar ataxia (BEHRS); BEHRS
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A nervous system disease characterized by early-on.. [+]
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
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primary hyperoxaluria type 1
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oxalosis I; alanine-glyoxylate aminotransferase de..
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oxalosis I; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; HP1; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine pyruvate aminotransferase deficiency
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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.
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syndromic microphthalmia 2
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oculofaciocardiodental syndrome; OFCD syndrome; AN..
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OFCD syndrome; oculofaciocardiodental syndrome; ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; syndromic microphthalmia type 2
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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.
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immunodeficiency 16
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OX40 deficiency; combined immunodeficiency due to ..
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OX40 deficiency; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; IMD16
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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.
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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optic atrophy-intellectual disability syndrome; BB..
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optic atrophy-intellectual disability syndrome; BBSOAS
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A syndrome characterized by delayed development, m.. [+]
A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
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