Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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choreaacanthocytosis |
Levine-Critchley syndrome; choreoacanthocytosis; c..
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A neuroacanthocytosis characterized by progressive..[+]
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congenital adrenal hyperplasia |
lipoid CAH; adrenal hyperplasia 1; congenital lipo..
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A steroid inherited metabolic disorder that is cha..[+]
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spasmodic dystonia |
laryngeal dystonia
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A focal dystonia that involves the muscles that co..[+]
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medulloblastoma |
localized primitive neuroectodermal tumor; CNS PNE..
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An infratentorial cancer that is located_in the lo..[+]
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1 articles | 6 matches |
DNA ligase IV deficiency |
LIG4 Syndrome
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A combined T cell and B cell immunodeficiency that..[+]
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brain glioma |
lower grade glioma
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A brain cancer that has_material_basis_in glial ce..[+]
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1 articles | |
Timothy syndrome |
long QT syndrome with syndactyly
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A syndrome characterized by cardiac, hand/foot, fa..[+]
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3 articles | |
carnitine palmitoyltransferase II deficiency |
late-onset carnitine palmitoyltransferase II defic..
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A lipid metabolism disorder characterized by an en..[+]
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Van der Woude syndrome |
lip-pit syndrome
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A syndrome characterized by the combination of low..[+]
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1 articles | |
3-M syndrome |
Le Merrer syndrome; gloomy face syndrome; three M ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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MASA syndrome |
L1 syndrome; hereditary spastic paraplegia 1; SPG1..
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A hereditary spastic paraplegia that is characteri..[+]
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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
lymphedema, microcephaly and chorioretinopathy syn..
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A syndrome characterized by variable expression of..[+]
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Hennekam syndrome |
lymphedem-lymphangiectasia-intellectual disability..
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A lymphatic system disease characterized by he pre..[+]
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white shrimp allergy |
Litopenaeus vannamei allergy
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A crustacean allergy triggered by Litopenaeus vann..[+]
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microcephalic osteodysplastic primordial dwarfism type I |
low-birth-weight dwarfism with skeletal dysplasia; ..
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An osteochondrodysplasia that is a form of microce..[+]
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1 articles | |
autosomal recessive congenital ichthyosis |
lamellar ichthyosis; ARCI; non bullous congenital ..
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An ichthyosis that is characterized by autosomal r..[+]
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autosomal recessive congenital ichthyosis 3 |
lamellar ichthyosis 5; ARCI3
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 4A |
lamellar ichthyosis 2; ARCI4A; ichthyosis congenit..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 8 |
An autosomal recessive congenital ichthyosis chara..[+]
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restrictive dermopathy |
A skin disease characterized by thin, tightly adhe..[+]
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1 articles | ||
hypomyelinating leukodystrophy 7 |
leukoencephalopathy-ataxia-hypodontia-hypomyelinat..
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A hypomyelinating leukodystrophy characterized by ..[+]
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syndromic X-linked intellectual disability Lubs type |
Lubs X-linked mental retardation syndrome; MECP2 d..
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A syndromic X-linked intellectual disability chara..[+]
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X-linked intellectual disability-psychosis-macroorchidism syndrome |
Lindsay-Burn syndrome; mental retardation with psy..
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A syndromic X-linked intellectual disability chara..[+]
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Norman-Roberts syndrome |
A lissencephaly that has_material_basis_in homozyg..[+]
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distal myopathy 1 |
A distal myopathy that is characterized by autosom..[+]
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familial partial lipodystrophy type 6 |
A familial partial lipodystrophy characterized by ..[+]
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hereditary lymphedema IC |
LMPH1C
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema ID |
LMPH1D
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema IA |
LMPH1A
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema IB |
LMPH1B
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema I |
LMPH1; congenital primary lymphedema; PCL; Nonne-M..
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A hereditary lymphedema characterized by autosomal..[+]
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hereditary lymphedema II |
A hereditary lymphedema characterized by onset aro..[+]
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diphthamide deficiency syndrome 1 |
Loucks-Innes syndrome; DEDSSH1; developmental dela..
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A diphthamide deficiency syndrome that has_materia..[+]
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schwannomatosis 2 |
LZTR1-related schwannomatosis; neurofibromatosis 3..
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A schwannomatosis that has_material_basis_in germl..[+]
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inflammatory poikiloderma with hair abnormalities and acral keratoses |
LIPHAK syndrome; LIPHAK; IPHAK
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A skin disease characterized by mottled hyper- and..[+]
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peeling skin syndrome 2 |
localized peeling skin syndrome; acral peeling ski..
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A peeling skin syndrome that has_material_basis_in..[+]
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arrhythmogenic left ventricular cardiomyopathy |
An intrinsic cardiomyopathy characterized by hypok..[+]
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autosomal recessive spinocerebellar ataxia 19 |
Lichtenstein-Knorr syndrome; SCAR19
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An autosomal recessive cerebellar ataxia that is c..[+]
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myofibrillar myopathy 3 |
LGMD 1A; myotilinopathy; autosomal dominant limb-g..
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A myofibrillar myopathy that has_material_basis_in..[+]
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infantile myofibromatosis |
lipofibromatosis
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A connective tissue benign neoplasm that is charac..[+]
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multiple congenital anomalies-hypotonia-seizures syndrome 3 |
light fixation seizure syndrome; M syndrome
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A multiple congenital anomalies-hypotonia-seizures..[+]
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primary mediastinal B-cell lymphoma |
Large cell lymphoma of the mediastinum; Mediastina..
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A large B-cell lymphoma that is is characterized b..[+]
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acquired generalized lipodystrophy |
Lawrence syndrome
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A complete generalized lipodystrophy that is chara..[+]
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megalencephalic leukoencephalopathy with subcortical cysts 1 |
leukoencephalopathy with swelling and cysts; Van D..
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A megalencephalic leukoencephalopathy with subcort..[+]
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Noonan syndrome with multiple lentigines 1 |
LEOPARD syndrome 1
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A Noonan syndrome with multiple lentigines that ha..[+]
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Noonan syndrome with multiple lentigines 2 |
LEOPARD syndrome 2
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A Noonan syndrome with multiple lentigines that ha..[+]
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Noonan syndrome with multiple lentigines 3 |
LEOPARD syndrome 3
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A Noonan syndrome with multiple lentigines that ha..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2Z |
limb-girdle muscular dystrophy 21
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An autosomal recessive limb-girdle muscular dystro..[+]
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immunoglobulin light chain amyloidosis |
Light chain amyloidosis; AL amyloidosis; Amyloidos..
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An amyloidosis that is characterized by misfolded ..[+]
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central conducting lymphatic anomaly |
lymphatic malformation-7
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A lymphatic system disease that is characterized b..[+]
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