Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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exudative vitreoretinopathy |
FEVR; familial exudative vitreoretinopathy
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A retinal vascular disease characterized by the pr..[+]
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2 articles | |
hereditary sensory neuropathy |
familial dysautonomia, type II; congenital insensi..
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A neuropathy characterized by congenital insensiti..[+]
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2 articles | |
tooth agenesis |
familial tooth agenesis; hypodontia; oligodontia; ..
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A tooth disease characterized by failure to develo..[+]
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1 articles | |
advanced sleep phase syndrome |
familial advanced sleep-phase syndrome
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A sleep disorder that involves an altered circadia..[+]
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Aland Island eye disease |
An eye disease characterized by fundus hypopigment..[+]
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transthyretin amyloidosis |
An amyloidosis that is characterized by a loss of ..[+]
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primary cutaneous amyloidosis |
familial primary localized cutaneous amyloidosis; ..
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An amyloidosis characterized by pruritus, skin scr..[+]
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distal arthrogryposis |
A muscle tissue disease characterized by congenita..[+]
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3 articles | ||
Arts syndrome |
fatal X-linked ataxia with deafness and loss of vi..
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An X-linked disease that is characterized by profo..[+]
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atransferrinemia |
familial hypotransferrinemia
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A metal metabolism disorder that is characterized ..[+]
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COX deficiency, infantile mitochondrial myopathy |
fatal infantile cardioencephalomyopathy due to cyt..
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A cytochrome-c oxidase deficiency disease characte..[+]
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polycystic liver disease |
fibrocystic liver disease; congenital cystic liver..
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A liver disease that is characterized by the prese..[+]
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generalized dystonia |
A dystonia that affects most or all of the body.
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dropped head syndrome |
floppy head syndrome
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A spinal disease that is characterized by severe k..[+]
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popliteal pterygium syndrome |
facio-genito-popliteal syndrome; popliteal web syn..
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A syndrome characterized by abnormal development o..[+]
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gamma heavy chain disease |
Franklin's disease
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A heavy chain disease that results from an overpro..[+]
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intracranial berry aneurysm |
An intracranial aneurysm with a characteristic rou..[+]
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basal ganglia calcification |
Fahr disease
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A basal ganglia disease characterized by the prese..[+]
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stuttering |
familial persistent stuttering; stammering
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An articulation disorder characterized by involunt..[+]
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Robinow syndrome |
fetal face syndrome; acral dysostosis with facial ..
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A syndrome characterized by mild to moderate short..[+]
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1 articles | |
peeling skin syndrome |
familial continuous skin peeling syndrome; deciduo..
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A skin disease that is characterized by the painle..[+]
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cornea plana |
flat cornea
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n_a
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brown shrimp allergy |
Farfantepenaeus aztecus allergy
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A crustacean allergy triggered by Farfantepenaeus ..[+]
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Indian prawn allergy |
Fenneropenaeus indicus allergy
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A crustacean allergy triggered by Fenneropenaeus i..[+]
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cerebral cavernous malformation |
familial cavernous angioma; cavernous angiomatous ..
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A cerebrovascular disease that is characterized by..[+]
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hyperekplexia |
familial startle disease; congenital stiff man syn..
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A nervous system disease characterized by an exagg..[+]
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6 articles | |
Muenke Syndrome |
FGFR3-related craniosynostosis
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A craniosyntosis characterized by autosomal domina..[+]
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syndromic X-linked intellectual disability 5 |
Fried syndrome; MRX59; MRXS21; Pettigrew syndrome; ..
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A syndromic X-linked intellectual disability chara..[+]
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hereditary neuropathy with liability to pressure palsies |
familial recurrent polyneuropathy; current pressur..
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A neuropathy characterized by autosomal dominant i..[+]
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developmental and epileptic encephalopathy 9 |
female restricted epilepsy with mental retardation..
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A developmental and epileptic encephalopathy chara..[+]
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pemphigus vulgaris |
familial pemphigus vulgaris
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A pemphigus characterized by autosomal dominant bl..[+]
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isolated growth hormone deficiency |
familial isolated growth hormone deficiency; conge..
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A hypopituitarism characterized by abnormally low ..[+]
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isolated growth hormone deficiency type III |
Fleisher syndrome; congenital isolated GH deficien..
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An isolated growth hormone deficiency characterize..[+]
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renal hypomagnesemia 3 |
A hypomagnesemia characterized by autosomal recess..[+]
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renal hypomagnesemia 5 with ocular involvement |
A hypomagnesemia characterized by autosomal recess..[+]
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legume allergy |
Fabaceae allergy
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A fruit allergy triggered by Fabaceae (legume) pla..[+]
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ITM2B-related cerebral amyloid angiopathy 1 |
A cerebral amyloid angiopathy characterized by ons..[+]
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ITM2B-related cerebral amyloid angiopathy 2 |
A cerebral amyloid angiopathy characterized by ata..[+]
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Coffin-Siris syndrome 1 |
fifth digit syndrome; autosomal dominant mental re..
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A Coffin-Siris syndrome that has_material_basis_in..[+]
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progressive familial intrahepatic cholestasis 1 |
FIC1 deficiency; PFIC1
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A progressive familial intrahepatic cholestasis ch..[+]
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primary coenzyme Q10 deficiency 6 |
familial steroid-resistant nephrotic syndrome with..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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multiple mitochondrial dysfunctions syndrome |
fatal multiple mitochondrial dysfunction syndrome; ..
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A mitochondrial metabolism disease that is charact..[+]
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spinal neurofibromatosis |
FNSF; familial spinal neurofibromatosis; SNF
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A neurofibromatosis 1 characterized by bilateral n..[+]
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myofibrillar myopathy 5 |
filaminopathy
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n_a
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mitochondrial DNA depletion syndrome 9 |
fatal infantile lactic acidosis
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A mitochondrial DNA depletion syndrome that is cha..[+]
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mitochondrial DNA depletion syndrome 13 |
FBXL4-related encephalomyopathic mitochondrial DNA..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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bicuspid aortic valve disease |
Familial bicuspid aortic valve
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An aortic valve disease that is characterized by t..[+]
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mitochondrial complex IV deficiency nuclear type 2 |
fatal infantile cardioencephalomyopathy due to cyt..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial complex IV deficiency nuclear type 6 |
fatal infantile cardioencephalomyopathy due to cyt..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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mitochondrial complex IV deficiency nuclear type 9 |
fatal infantile cardioencephalomyopathy due to cyt..
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A COX deficiency, infantile mitochondrial myopathy..[+]
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