Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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blackwater fever |
Hemoglobinuric, malaria; Black water fever (disord..
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A malaria that presents as a rare febrile complica..[+]
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epicondylitis |
hockey elbow; andrel epicondylitis; archer's elbow..
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A bone inflammation disease that results_in inflam..[+]
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familial lipoprotein lipase deficiency |
A familial hyperlipemia characterized by a deficie..[+]
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bilateral hyperactive labyrinth |
n_a
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von Hippel-Lindau disease |
Hippel Lindau syndrome; von Hippel-Lindau syndrome..
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n_a
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estrogen excess |
hyperestrogenism
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An ovarian dysfunction that is characterized by a ..[+]
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pemphigoid gestationis |
A pemphigoid that is characterized by erythematous..[+]
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neuronal ceroid lipofuscinosis |
hereditary ceroid lipofuscinosis
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n_a
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1 articles | |
Axenfeld-Rieger syndrome |
Hagedoom syndrome; Anomaly, Rieger's; RGS - Rieger..
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An eye disease characterized by abnormalities of t..[+]
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3 articles | |
Clouston syndrome |
An ectodermal dysplasia that is characterized by a..[+]
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renal agenesis |
A renal disease that is characterized by the failu..[+]
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1 articles | ||
polycystic echinococcosis |
human polycystic hydatid disease; neotropical echi..
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An echinococcosis that is caused by the larvae of ..[+]
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X-linked dominant hypophosphatemic rickets |
A rickets has_material_basis_in X-linked mutations..[+]
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1 articles | ||
white sponge nevus |
hereditary mucosal leukokeratosis; white sponge ne..
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A skin disease characterized by a defect in the no..[+]
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Gitelman syndrome |
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W..
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A renal tubular transport disease that is has_mate..[+]
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5 articles | |
nonphotosensitive trichothiodystrophy 4 |
HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYND..
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A syndrome that is characterized by brittle hair, ..[+]
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Charcot-Marie-Tooth disease type 1 |
hereditary motor and sensory neuropathy type 1
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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1 articles | |
Charcot-Marie-Tooth disease type 2 |
hereditary motor and sensory neuropathy Okinawa ty..
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A Charcot-Marie-Tooth disease characterized by abn..[+]
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1 articles | |
Charcot-Marie-Tooth disease type 4 |
hereditary motor and sensory neuropathy
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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visceral heterotaxy |
heterotaxia; situs ambiguus
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A physical disorder characterized by the abnormal ..[+]
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34 articles | 121 matches |
Walker-Warburg syndrome |
HARD syndrome; cerebroocular dysplasia-muscular dy..
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A congenital muscular dystrophy that is characteri..[+]
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Seckel syndrome |
Harper's syndrome; microcephalic primordial dwarfi..
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A syndrome characterized by intrauterine growth re..[+]
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2 articles | |
tooth agenesis |
hypodontia; oligodontia; selective tooth agenesis; ..
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A tooth disease characterized by failure to develo..[+]
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1 articles | |
acheiropody |
Horn-Kolb Syndrome; Acheiropodia
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An osteochondrodysplasia characterized by a lack o..[+]
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acrokeratosis verruciformis |
Hopf disease; Acrokeratosis verruciformis of Hopf; ..
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n_a
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Bamforth-Lazarus syndrome |
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL..
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n_a
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ataxic cerebral palsy |
hypotonic cerebral palsy
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A cerebral palsy that is caused by damage to the c..[+]
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ornithine translocase deficiency |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria..
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An amino acid metabolic disorder that has_material..[+]
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tyrosinemia type I |
hepatorenal tyrosinemia
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A tyrosinemia that has_material_basis_in deficienc..[+]
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vitamin B12 deficiency |
hypocobalaminemia; cobalamin deficiency
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A vitamin metabolic disorder that results from low..[+]
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congenital intrinsic factor deficiency |
hereditary intrinsic factor deficiency
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A vitamin B12 deficiency that is characterized by ..[+]
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spondyloepiphyseal dysplasia with congenital joint dislocations |
A spondyloepiphyseal dysplasia that is characteriz..[+]
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urofacial syndrome |
hydronephrosis with peculiar facial expression; Oc..
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A syndrome that is characterized by inverted facia..[+]
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1 articles | |
Troyer syndrome |
hereditary spastic paraplegia 20; autosomal recess..
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A hereditary spastic paraplegia that is characteri..[+]
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MHC class I deficiency |
HLA CLASS I DEFICIENCY; bare lymphocyte syndrome t..
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n_a
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CD40 ligand deficiency |
HIGMX-1; X-linked hyper-IgM syndrome
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A combined T cell and B cell immunodeficiency that..[+]
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immunodeficiency with hyper IgM type 3 |
A hyper IgM syndrome that has_material_basis_in mu..[+]
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dentatorubral-pallidoluysian atrophy |
Haw River Syndrome; DRPLA; Naito-Oyanagi disease
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An autosomal dominant cerebellar ataxia that has_m..[+]
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xanthinuria |
hereditary xanthinuria; xanthine oxidase deficienc..
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A purine-pyrimidine metabolic disorder characteriz..[+]
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Mast syndrome |
hereditary spastic paraplegia 21; autosomal recess..
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A hereditary spastic paraplegia associated with de..[+]
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MASA syndrome |
hereditary spastic paraplegia 1; L1 syndrome; SPG1..
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A hereditary spastic paraplegia that is characteri..[+]
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parietal foramina |
hereditary cranium bifidum; Caitlin marks; enlarge..
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An inherited neural tube defect that is characteri..[+]
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oral hairy leukoplakia |
hairy leukoplakia
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A mouth disease characterized by a white patch on ..[+]
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agnathia-otocephaly complex |
holoprosencephaly-agnathia; dysgnathia complex agn..
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A physical disorder characterized by mandibular hy..[+]
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acrodermatitis chronica atrophicans |
Herxheimer disease; primary diffuse atrophy
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An acrodermatitis characterized by a chronically p..[+]
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lysinuric protein intolerance |
hyperdibasic aminoaciduria; LPI; dibasic amino aci..
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An amino acid metabolic disorder characterized by ..[+]
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Schnyder corneal dystrophy |
hereditary crystalline stromal dystrophy of Schnyd..
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A stromal dystrophy that is characterized by abnor..[+]
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posterior polymorphous corneal dystrophy |
hereditary polymorphus posterior corneal dystrophy..
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A corneal dystrophy that is characterized by chang..[+]
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gingival fibromatosis |
A gingival overgrowth characterized by benign, slo..[+]
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Kindler syndrome |
hereditary acrokeratotic poikiloderma of Kindler-W..
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A skin disease characterized by congenital blister..[+]
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