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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
West syndrome
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Infantile spasms syndrome
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An infancy electroclinical syndrome that is charac.. [+]
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
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1 articles
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taeniasis
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Infection by Taeniarhynchus saginatus; Beef tapewo..
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Infection by Taeniarhynchus saginatus; Beef tapeworm infection; Taenia saginata infectious disease
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A parasitic helminthiasis infectious disease that .. [+]
A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
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arterial calcification of infancy
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infantile arteriosclerosis; idiopathic infantile a..
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infantile arteriosclerosis; idiopathic infantile arterial calcification; generalized arterial calcification of infancy
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A vascular disease that is characterized by genera.. [+]
A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
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Borjeson-Forssman-Lehmann syndrome
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intellectual deficiency-epilepsy-endocrine disorde..
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intellectual deficiency-epilepsy-endocrine disorders syndrome; BORJ; Borjeson syndrome; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; MRXSBFL; BFLS
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An X-linked disease that is characterized by intel.. [+]
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
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small cell carcinoma
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intermediate cell small cell carcinoma; Small cell..
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intermediate cell small cell carcinoma; Small cell carcinoma - intermediate cell; Small cell carcinoma, intermediate cell (morphologic abnormality); Small cell carcinoma, intermediate cell
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A carcinoma that is an undifferentiated neoplasm c.. [+]
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
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1 articles
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Kahrizi syndrome
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intellectual disability-cataract-coloboma-kyphosis..
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intellectual disability-cataract-coloboma-kyphosis syndrome; intellectual disability, Kahrizi type; KHRZ
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A syndrome that is characterized by mental retarda.. [+]
A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
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generalized dystonia
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idiopathic non-familial dystonia; Idiopathic torsi..
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idiopathic non-familial dystonia; Idiopathic torsion dystonia; idiopathic familial dystonia; Dystonia 12; dystonia musculorum deformans; familial dystonia; fragments of torsion dystonia; symptomatic torsion dystonia; dystonia deformans progressiva
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A dystonia that affects most or all of the body.
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medulloblastoma
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infratentorial primitive neuroectodermal tumor; CN..
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infratentorial primitive neuroectodermal tumor; CNS PNET; localized primitive neuroectodermal tumor; brain medulloblastoma; CPNET; Medulloblastoma, histologically defined
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An infratentorial cancer that is located_in the lo.. [+]
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
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1 articles
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6 matches
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small intestine carcinoid neuroendocrine tumor
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intestinal carcinoid tumour; 'intestinal carcinoid..
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intestinal carcinoid tumour; 'intestinal carcinoid tumour'
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A neuroendocrine tumor that has_material_basis_in .. [+]
A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.
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carnitine palmitoyltransferase II deficiency
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infantile carnitine palmitoyltransferase II defici..
[+]
infantile carnitine palmitoyltransferase II deficiency; CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency
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A lipid metabolism disorder characterized by an en.. [+]
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
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sclerocornea
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isolated congenital sclerocornea
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A corneal disease in which the cornea blends with .. [+]
A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
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renal-hepatic-pancreatic dysplasia
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Ivemark's syndrome
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it is usual fatal soon after birth.; A physical di.. [+]
A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
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1 articles
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Vici syndrome
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immunodeficiency with cleft lip/palate, cataract, ..
[+]
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
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A syndrome characterized by callosal agenesis, cat.. [+]
A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
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Schimke immuno-osseous dysplasia
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immunoosseous dysplasia Schimke type; Schimke synd..
[+]
immunoosseous dysplasia Schimke type; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immunoosseous dysplasia
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A spondyloepiphyseal dysplasia characterized by sh.. [+]
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
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mitochondrial complex I deficiency
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isolated NADH-ubiquinone reductase deficiency; iso..
[+]
isolated NADH-ubiquinone reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated mitochondrial respiratory chain complex I deficiency
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A mitochondrial metabolism disease characterized b.. [+]
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
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mitochondrial complex II deficiency
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isolated succinate-CoQ reductase deficiency; isola..
[+]
isolated succinate-CoQ reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-ubiquinone reductase deficiency; isolated mitochondrial respiratory chain complex II deficiency
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A mitochondrial metabolism disease characterized b.. [+]
A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
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lethal congenital contracture syndrome 3
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Israeli Bedouin type B multiple contracture syndro..
[+]
Israeli Bedouin type B multiple contracture syndrome
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A lethal congenital contracture syndrome that has_.. [+]
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
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arteriovenous malformations of the brain
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intracranial arteriovenous malformation; cerebral ..
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intracranial arteriovenous malformation; cerebral arteriovenous malformation
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A central nervous system benign neoplasm that deri.. [+]
A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
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autosomal recessive congenital ichthyosis 4A
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ichthyosis congenita IIB; ICR2B; ARCI4A; lamellar ..
[+]
ICR2B; ichthyosis congenita IIB; ARCI4A; lamellar ichthyosis 2
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An autosomal recessive congenital ichthyosis chara.. [+]
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
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autosomal recessive congenital ichthyosis 11
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IFAH syndrome; IHS; ichthyosis-hypotrichosis syndr..
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IHS; IFAH syndrome; ichthyosis-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome
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An autosomal recessive congenital ichthyosis chara.. [+]
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
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restrictive dermopathy
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Infantile restrictive dermopathy; hyperkeratosis-c..
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Infantile restrictive dermopathy; hyperkeratosis-contracture syndrome; tight skin contracture syndrome; lethal restrictive dermopathy; Lethal tight skin contracture syndrome
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A skin disease characterized by thin, tightly adhe.. [+]
A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
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1 articles
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dextro-looped transposition of the great arteries
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isolated ventriculoarterial discordance; congenita..
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isolated ventriculoarterial discordance; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; D-TGA; ventriculoarterial discordance with atrioventricular concordance; DTGA1
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A congenital heart disease characterized by comple.. [+]
A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.
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1 articles
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microvillus inclusion disease
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intractable diarrhea of infancy; congenital microv..
[+]
intractable diarrhea of infancy; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities
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A congenital diarrhea characterized by onset of in.. [+]
A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
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syndromic X-linked intellectual disability 17
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intellectual disability-alacrima-achalasia syndrom..
[+]
intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia
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A syndromic X-linked intellectual disability chara.. [+]
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.
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right atrial isomerism
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Ivemark syndrome; asplenia with cardiovascular ano..
[+]
Ivemark syndrome; asplenia with cardiovascular anomalies
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A visceral heterotaxy characterized by complete at.. [+]
A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
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bullous congenital ichthyosiform erythroderma
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ichthyosis bullosa of Siemens; superficial epiderm..
[+]
ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis; bullous type ichthyosis
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An ichthyosis characterized by congenital erythema.. [+]
An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
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renal hypomagnesemia 3
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isolated renal hypomagnesemia; familial primary hy..
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isolated renal hypomagnesemia; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; renal hypomagnesemia type 3
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A hypomagnesemia characterized by autosomal recess.. [+]
A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
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Vulto-van Silfout-de Vries syndrome
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intellectual developmental disorder with impaired ..
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intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; IDDISBAS; autosomal dominant mental retardation 24; MRD24; autosomal dominant non-syndromic intellectual disability 24; VSVS
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An autosomal dominant intellectual developmental d.. [+]
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
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congenital nongoitrous hypothryoidism 4
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isolated thyrotropin deficiency; CHNG4
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A congenital hypothyroidism characterized by a per.. [+]
A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
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hereditary sensory neuropathy type 4
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insensitivity to pain, congenital, with anhidrosis..
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insensitivity to pain, congenital, with anhidrosis; hereditary sensory neuropathy type IV
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A hereditary sensory neuropathy characterized by i.. [+]
A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
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1 articles
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spermatogenic failure 5
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Infertility associated with multi-tailed spermatoz..
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Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid; infertility associated with multitailed spermatozoa and excessive DNA; male infertility with large-headed, multiflagellar, polyploid spermatozoa; SPGF5; male infertility due to macrozoospermia; macrocephalic sperm head syndrome
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A spermatogenic failure that is characterized by a.. [+]
A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
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miliaria profunda
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ICD10CM:L74.2; SNOMEDCT_US_2020_03_01:47317002
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A miliaria that is characterized by ductal occlusi.. [+]
A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
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classic dopamine transporter deficiency syndrome
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infantile parkinsonism-dystonia 1; classic DTDS; P..
[+]
infantile parkinsonism-dystonia 1; classic DTDS; PKDYS1
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A dopamine transporter deficiency syndrome charact.. [+]
A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
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peeling skin syndrome 1
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inflammatory peeling skin syndrome; generalized in..
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inflammatory peeling skin syndrome; generalized inflammatory peeling skin syndrome; peeling skin syndrome type B; PSS1
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A peeling skin syndrome that has_material_basis_in.. [+]
A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33.
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peeling skin syndrome 4
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ichthyosis exfoliativa; ichthyosis bullosa of Siem..
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ichthyosis exfoliativa; ichthyosis bullosa of Siemens-like; AREI; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS4
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A peeling skin syndrome that has_material_basis_in.. [+]
A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.
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peeling skin syndrome 5
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ichthyosis exfoliativa; autosomal recessive exfoli..
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ichthyosis exfoliativa; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS5
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A peeling skin syndrome that has_material_basis_in.. [+]
A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.
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mucolipidosis II alpha/beta
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I-cell disease; inclusion-cell disease; mucolipido..
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inclusion-cell disease; I-cell disease; mucolipidosis II; mucolipidosis II alpha/beta
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A mucolipidosis that is characterized by short sta.. [+]
A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
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nonsyndromic congenital nail disorder 8
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isolated toenail dystrophy
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A nonsyndromic congenital nail disorder that is ch.. [+]
A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
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mitochondrial DNA depletion syndrome 7
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infantile onset spinocerebellar ataxia; OHAHA SYND..
[+]
infantile onset spinocerebellar ataxia; OHAHA SYNDROME
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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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multiple mitochondrial dysfunctions syndrome 3
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IBA57 deficiency
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A multiple mitochondrial dysfunctions syndrome tha.. [+]
A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.
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mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
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indeterminate bronchioloalveolar carcinoma; mixed ..
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indeterminate bronchioloalveolar carcinoma; mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma
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A bronchiolo-alveolar adenocarcinoma that is chara.. [+]
A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin).
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nephrotic syndrome type 7
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Immunoglobulin-mediated MPGN; immunoglobulin-media..
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Immunoglobulin-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
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A familial nephrotic syndrome characterized by ons.. [+]
A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
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developmental and epileptic encephalopathy 35
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ITPA-related encephalopathy; DEE35; early infantil..
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ITPA-related encephalopathy; DEE35; early infantile epileptic encephalopathy 35
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A developmental and epileptic encephalopathy chara.. [+]
A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
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hyper IgM syndrome
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immunodeficiency with hyper-IgM; HIGM; hyperimmuno..
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immunodeficiency with hyper-IgM; HIGM; hyperimmunoglobulin M syndrome
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A hyperimmunoglobin syndrome that is characterized.. [+]
A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
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B-lymphoblastic leukemia/lymphoma with iAMP21
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Intrachromosomal amplification of chromosome 21 (i..
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Intrachromosomal amplification of chromosome 21 (iAMP21); B-ALL with iAMP21
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A B-lymphoblastic leukemia/lymphoma that is charac.. [+]
A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
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GNE myopathy
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inclusion body myopathy 2; Distal Myopathy with Ri..
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inclusion body myopathy 2; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; Nonaka myopathy
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A myopathy that is characterized by progressive sk.. [+]
A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
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congenital myopathy 6
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inclusion body myopathy 3; proximal myopathy and o..
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inclusion body myopathy 3; proximal myopathy and ophthalmoplegia
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A congenital myopathy that is characterized by chi.. [+]
A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
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autosomal dominant beta thalassemia
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inclusion body beta-thalassemia
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A beta thalassemia that has_material_basis_in one .. [+]
A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
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serum amyloid A amyloidosis
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inflammation AA amyloidosis; AA amyloidosis; Apo s..
[+]
inflammation AA amyloidosis; AA amyloidosis; Apo serum amyloid A amyloidosis; secondary amyloidosis
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An amyloidosis that is characterized by sustained .. [+]
An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.
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RNASET2-deficient cystic leukoencephalopathy
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infantile-onset RNASET2 deficient cystic leukoence..
[+]
infantile-onset RNASET2 deficient cystic leukoencephalopathy; cystic leukoencephalopathy without megalencephaly
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A leukodystrophy that is characterized by non-prog.. [+]
A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.
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