| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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familial temporal lobe epilepsy 4
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occipitotemporal lobe epilepsy and migraine with a..
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occipitotemporal lobe epilepsy and migraine with aura; EPOLM; ETL4
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A temporal lobe epilepsy characterized by autosoma.. [+]A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
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microphthalmia with limb anomalies
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OAS; ophthalmoacromelic syndrome; Waardenburg anop..
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ophthalmoacromelic syndrome; OAS; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome; MLA
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A syndrome that is characterized by autosomal rece.. [+]A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
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leukoencephalopathy with vanishing white matter
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ovarioleukodystrophy; CACH; childhood ataxia with ..
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ovarioleukodystrophy; CACH; childhood ataxia with central nervous system hypomyelination; CLE; vanishing white matter leukodystrophy; Cree leukoencephalopathy; CACH/VWM
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A leukodystrophy characterized by variable neurolo.. [+]A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
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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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spermatogenic failure 1
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oligosynaptic infertility; oligochiasmatic inferti..
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oligosynaptic infertility; oligochiasmatic infertility; SPGF1
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A spermatogenic failure that is characterized by a.. [+]A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.
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CSF1R-related brain malformation and osteopetrosis
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osteoporosis and infantile neuroaxonal dystrophy
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A neuroaxonal dystrophy that has_material_basis_in.. [+]A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.
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progressive leukoencephalopathy with ovarian failure
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ovarioleukodystrophy
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An leukodystrophy characterized by loss of motor a.. [+]An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
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foveal hypoplasia 1
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O'Donnell-Pappas syndrome; foveal hypoplasia 1 wit..
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O'Donnell-Pappas syndrome; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia-presenile cataract syndrome; FVH1
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A retinal disease characterized by foveal hypoplas.. [+]A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
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mitochondrial DNA depletion syndrome 7
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OHAHA SYNDROME; infantile onset spinocerebellar at..
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OHAHA SYNDROME; infantile onset spinocerebellar ataxia
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A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
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Marinesco-Sjogren syndrome
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Oligophrenic cerebellolenticular degeneration; Gar..
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Oligophrenic cerebellolenticular degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration
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A syndrome characterized by congenital cataracts, .. [+]A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
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Teebi hypertelorism syndrome 1
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Opitz GBBB syndrome type II; SPECC1L-related hyper..
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Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1
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A Teebi hypertelorism syndrome that has_material_b.. [+]A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
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IDH-mutant and 1p/19q-codeleted oligodendroglioma
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Oligodendroglioma, IDH-mutant and 1p/19q-codeleted..
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Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
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An anaplastic oligodendroglioma that has_material_.. [+]An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
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wild-type amyloidosis
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Old age amyloidosis; Age related amyloidosis; ATTR..
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Old age amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis
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An amyloidosis that is characterized by progressiv.. [+]An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.
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Harel-Yoon syndrome
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Ocular anomalies-axonal neuropathy-developmental d..
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Ocular anomalies-axonal neuropathy-developmental delay syndrome
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A syndrome that is characterized by delayed psycho.. [+]A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
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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 syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; Burton skeletal dysplasia; Schwartz-Jampel syndrome type 1
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A syndrome characterized by neuromyotonia and chon.. [+]A syndrome 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; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities; papillo-renal syndrome, optic nerve coloboma with renal disease; coloboma of optic nerve with renal disease
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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..
[+]
optic atrophy, polyneuropathy, and deafness; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; X-linked Charcot-Marie-Tooth disease type 5; CMTX5; Rosenberg-Chutorian syndrome
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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 osteopetrosis type II; autosomal dominant Albers-Schonberg disease
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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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