| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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autosomal dominant progressive external ophthalmoplegia 1
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PEOA1
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A chronic progressive external ophthalmoplegia tha.. [+]A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.
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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
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PEOB3; autosomal recessive progressive external op..
[+]
PEOB3; autosomal recessive progressive external ophthalmoplegia 3
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A chronic progressive external ophthalmoplegia tha.. [+]A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
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Guttmacher syndrome
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preaxial deficiency-postaxial polydactyly-hypospad..
[+]
preaxial deficiency-postaxial polydactyly-hypospadias syndrome; autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
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A syndrome characterized by preaxial deficiencies .. [+]A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
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spondyloepiphyseal dysplasia Maroteaux type
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Pseudo-Morquio syndrome type 2; Brachyolmia Type 2..
[+]
Pseudo-Morquio syndrome type 2; Brachyolmia Type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux
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An osteochondrodysplasia characterized by dysplast.. [+]An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
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dehydrated hereditary stomatocytosis 1
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PSHK1; pseudohyperkalemia familial 1, due to red c..
[+]
PSHK1; pseudohyperkalemia familial 1, due to red cell leak; pseudohyperkalemia edinburgh; dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
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A dehydrated hereditary stomatocytosis that has_ma.. [+]A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
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focal or diffuse nonepidermolytic palmoplantar keratoderma
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PPKNEFD; autosomal dominant focal non-epidermolyti..
[+]
PPKNEFD; autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
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A nonepidermolytic palmoplantar keratoderma charac.. [+]A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.
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Jacobsen Syndrome
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partial 11q monosomy syndrome; chromosome 11q dele..
[+]
partial 11q monosomy syndrome; chromosome 11q deletion syndrome; Jacobsen distal 11q deletion syndrome
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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.
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X-linked panhypopituitarism
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pituitary dwarfism IV; PHPX
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A panhypopituitarism that has_material_basis_in du.. [+]A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1.
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TARP syndrome
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Pierre Robin syndrome-congenital heart defect-tali..
[+]
Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; TARPS
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A syndrome characterized by talipes equinovarus, a.. [+]A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.
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thrombophilia due to activated protein C resistance
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PCCF deficiency; PROC cofactor deficiency; activat..
[+]
PROC cofactor deficiency; PCCF deficiency; activated protein C resistance; APC resistance; THPH2; thrombophilia due to deficiency of activated protein C cofactor; thrombophilia V
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A thrombophilia characterized by resistance of F5 .. [+]A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
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X-linked retinitis pigmentosa and sinorespiratory infections
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primary ciliary dyskinesia-retinitis pigmentosa sy..
[+]
primary ciliary dyskinesia-retinitis pigmentosa syndrome
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A syndrome characterized by retinitis pigmentosa a.. [+]A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.
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corpus callosum agenesis-abnormal genitalia syndrome
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Proud syndrome; Proud-Levine-Carpenter syndrome; A..
[+]
Proud-Levine-Carpenter syndrome; Proud syndrome; ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
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A syndrome characterized by agenesis of the corpus.. [+]A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
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lissencephaly 1
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PAFAH1B1-related lissencephaly; LIS1
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A lissencephaly characterized by an abnormally thi.. [+]A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3.
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Woodhouse-Sakati syndrome
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progressive extrapyramidal disorder with primary h..
[+]
progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia; diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome
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A syndrome characterized by hypogonadism, alopecia.. [+]A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.
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brain small vessel disease 2
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porencephaly 2; BSVD2
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A brain small vessel disease characterized by dist.. [+]A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
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