Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hyperphosphatasia with impaired intellectual development syndrome 4 |
hyperphosphatasia with mental retardation syndrome..
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A hyperphosphatasia with impaired intellectual dev..[+]
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hyperphosphatasia with impaired intellectual development syndrome 6 |
hyperphosphatasia with mental retardation syndrome..
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A hyperphosphatasia with impaired intellectual dev..[+]
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hereditary spastic paraplegia 70 |
autosomal recessive spastic paraplegia 70; SPG70
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 79A |
autosomal dominant spastic paraplegia 79A; SPG79A; ..
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A hereditary spastic paraplegia characterized by s..[+]
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hereditary spastic paraplegia 87 |
autosomal recessive spastic paraplegia 87; SPG87
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 88 |
autosomal dominant spastic paraplegia 88; SPG88
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 89 |
autosomal recessive spastic paraplegia 89; SPG89
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A hereditary spastic paraplegia characterized by i..[+]
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hereditary spastic paraplegia 90A |
autosomal dominant spastic paraplegia 90A; SPG90A; ..
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A hereditary spastic paraplegia characterized by m..[+]
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hereditary spastic paraplegia 90B |
autosomal recessive spastic paraplegia 90B; SPG90B..
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A hereditary spastic paraplegia characterized by m..[+]
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Halperin-Birk syndrome |
HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S..
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A syndrome characterized by structural brain defec..[+]
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hypochondroplasia |
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An osteochondrodysplasia that has_material_basis_i..[+]
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hypochondrogenesis |
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An osteochondrodysplasia that has_material_basis_i..[+]
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hypophosphatemic nephrolithiasis/osteoporosis 1 |
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A hypophosphatemic nephrolithiasis/osteoporosis th..[+]
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hypophosphatemic nephrolithiasis/osteoporosis 2 |
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A hypophosphatemic nephrolithiasis/osteoporosis th..[+]
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herpes simplex virus keratitis |
dendritic keratitis
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A keratitis that has_material_basis_in herpes simp..[+]
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hepatic veno-occlusive disease |
veno-occlusive disease
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A hepatic vascular disease that is characterized b..[+]
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haemophilus meningitis |
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A bacterial meningitis that has_material_basis_in ..[+]
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hypomyelinating leukodystrophy 14 |
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A hypomyelinating leukodystrophy that is character..[+]
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hyperprolinemia |
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An amno acid metabolic disorder that is characteri..[+]
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hyperprolinemia type 1 |
hyperprolinemia type I
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A hyperprolinemia that has_material_basis_in homoz..[+]
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hyperprolinemia type 2 |
hyperprolinemia type II
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A hyperprolinemia that has_material_basis_in homoz..[+]
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hyper IgM syndrome |
A hyperimmunoglobin syndrome that is characterized..[+]
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hyper IgE syndrome |
hyper immunoglobulin E syndrome
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A hyperimmunoglobulin syndrome that is characteriz..[+]
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hyperekplexia 4 |
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A hyperekplexia that is characterized by extreme h..[+]
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hyper IgE recurrent infection syndrome 2 |
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A hyper IgE syndrome that has_material_basis_in ho..[+]
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Heimler syndrome 1 |
Deafness-enamel hypoplasia-nail defects syndrome; ..
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A peroxisomal biogenesis disorder that is characte..[+]
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Heimler syndrome 2 |
peroxisomal biogenesis disorder 4C
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A peroxisomal biogenesis disorder that is characte..[+]
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hypophosphatemic nephrolithiasis/osteoporosis |
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A kidney disease that is characterized by formatio..[+]
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hereditary alpha tryptasemia syndrome |
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A syndrome that is characterized by high blood try..[+]
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hereditary diffuse gastric cancer |
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A diffuse gastric cancer that is characterized by ..[+]
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human cytomegalovirus infection |
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A viral infectious disease that has_material_basis..[+]
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histone mutated tumor |
histone mutated tumour
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A high grade glioma that has_material_basis_in mut..[+]
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histiocytic sarcoma |
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A histiocytic and dendritic cell cancer that is ch..[+]
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hereditary angioedema type I |
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A hereditrary angioedema that has_material_basis_i..[+]
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hereditary angioedema type III |
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A hereditary angioedema that is characterized clin..[+]
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high-grade B-cell lymphoma double-hit/triple-hit |
High Grade B-Cell Lymphoma with MYC and BCL2 or BC..
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A large B-cell lymphoma that is characterized by t..[+]
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hepatosplenic T-cell lymphoma |
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A mature T-cell and NK-cell lymphoma that is chara..[+]
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hot water epilepsy |
bathing epilepsy; water immersion epilepsy
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A reflex epilepsy that is characterized by seizure..[+]
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hot water epilepsy 1 |
Hot Water Epilepsy, 1
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A hot water epilepsy that has_material_basis_in a ..[+]
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hot water epilepsy 2 |
Hot Water Epilepsy, 2
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A hot water epilepsy that has_material_basis_in li..[+]
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HMG-CoA synthase 2 deficiency |
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficien..
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An amino acid metabolic disorder that is character..[+]
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hypotonia, ataxia, and delayed development syndrome |
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A syndrome that is characterized by congenital hyp..[+]
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high-grade astrocytoma with piloid features |
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An anaplastic astrocytoma that is characterized by..[+]
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Harel-Yoon syndrome |
Ocular anomalies-axonal neuropathy-developmental d..
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A syndrome that is characterized by delayed psycho..[+]
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holoprosencephaly 12 |
holoprosencephaly-12 with or without pancreatic ag..
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A holoprosencephaly that is characterized by abnor..[+]
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hyperimmunoglobulinemia D periodic fever syndrome |
HYPER-IgD SYNDROME
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A hyperimmunoglobulin syndrome that is characteriz..[+]
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hypogonadotropic hypogonadism |
hypogonadotropism; congenital idiopathic hypogonad..
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A hypogonadism characterized by a impaired signall..[+]
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2 articles | |
hypogonadotropic hypogonadism 11 with or without anosmia |
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A hypogonadotropic hypogonadism that has_material_..[+]
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hypogonadotropic hypogonadism 12 with or without anosmia |
familial idiopathic gonadotrpin deficiency; famili..
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A hypogonadotropic hypogonadism that has_material_..[+]
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hypogonadotropic hypogonadism 13 with or without anosmia |
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A hypogonadotropic hypogonadism that has_material_..[+]
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