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Disease	Synonyms	Description	Articles
hereditary sensory neuropathy	familial dysautonomia, type II; congenital insensi.. [+] familial dysautonomia, type II; congenital insensitivity to pain; hereditary sensory and autonomic neuropathy [-]	A neuropathy characterized by congenital insensiti..[+] A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [-]	2 articles
tooth agenesis	familial tooth agenesis; hypodontia; oligodontia; .. [+] familial tooth agenesis; hypodontia; oligodontia; selective tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop one or more missing teeth. [-]	1 articles
advanced sleep phase syndrome	familial advanced sleep-phase syndrome	A sleep disorder that involves an altered circadia..[+] A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [-]
Aland Island eye disease	FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eri.. [+] FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eriksson syndrome [-]	An eye disease characterized by fundus hypopigment..[+] An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. [-]
transthyretin amyloidosis	Familial transthyretin amyloidosis; familial amylo.. [+] Familial transthyretin amyloidosis; familial amyloid polyneuropathy; Amyloidosis, hereditary, transthyretin-related; transthyretin-related hereditary amyloidosis; TTR amyloidosis; paramyloidosis; Corino de Andrade's disease; ATTR amyloidosis; ATTRm amyloidosis [-]	An amyloidosis that is characterized by a loss of ..[+] An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [-]
primary cutaneous amyloidosis	familial primary localized cutaneous amyloidosis; .. [+] familial primary localized cutaneous amyloidosis; PCA [-]	An amyloidosis characterized by pruritus, skin scr..[+] An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. [-]
distal arthrogryposis	Freeman-Sheldon syndrome variant; Freeman-Sheldon .. [+] Freeman-Sheldon syndrome variant; Freeman-Sheldon syndrome; Arthrogryposis Multiplex Congenita; Sheldon-Hall syndrome [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]	3 articles
Arts syndrome	fatal X-linked ataxia with deafness and loss of vi.. [+] fatal X-linked ataxia with deafness and loss of vision; ARTS; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy; MRXS18 [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
atransferrinemia	familial hypotransferrinemia	A metal metabolism disorder that is characterized ..[+] A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. [-]
COX deficiency, infantile mitochondrial myopathy	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile encephalocardiomyopathy; fatal infantile cytochrome C oxidase deficiency; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. [-]
polycystic liver disease	fibrocystic liver disease; congenital cystic liver.. [+] fibrocystic liver disease; congenital cystic liver disease; congenital hepatic cyst [-]	A liver disease that is characterized by the prese..[+] A liver disease that is characterized by the presence of multiple cysts located_in the liver. [-]
generalized dystonia	familial dystonia; fragments of torsion dystonia; .. [+] fragments of torsion dystonia; familial dystonia; Dystonia 12; dystonia musculorum deformans; idiopathic familial dystonia; Idiopathic torsion dystonia; symptomatic torsion dystonia; dystonia deformans progressiva; idiopathic non-familial dystonia [-]	A dystonia that affects most or all of the body.
dropped head syndrome	floppy head syndrome	A spinal disease that is characterized by severe k..[+] A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. [-]
popliteal pterygium syndrome	facio-genito-popliteal syndrome; popliteal web syn.. [+] facio-genito-popliteal syndrome; popliteal web syndrome [-]	A syndrome characterized by abnormal development o..[+] A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. [-]
gamma heavy chain disease	Franklin's disease	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of gamma antibody (IgG). [-]
intracranial berry aneurysm	familial berry aneurysm; familial aneurysmal subar.. [+] familial berry aneurysm; familial aneurysmal subarachnoid hemorrhage; familial intracranial saccular aneurysm; saccular cerebral aneurysm [-]	An intracranial aneurysm with a characteristic rou..[+] An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [-]
basal ganglia calcification	Fahr disease	A basal ganglia disease characterized by the prese..[+] A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [-]
stuttering	familial persistent stuttering; stammering	An articulation disorder characterized by involunt..[+] An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [-]
Robinow syndrome	fetal face syndrome; acral dysostosis with facial .. [+] fetal face syndrome; acral dysostosis with facial and genital abnormalities; Robinow dwarfism [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]	1 articles
peeling skin syndrome	familial continuous skin peeling syndrome; deciduo.. [+] familial continuous skin peeling syndrome; deciduous skin; keratosis exfoliativa congenita; peeling skin disease; PSS [-]	A skin disease that is characterized by the painle..[+] A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. [-]
cornea plana	flat cornea	n_a
brown shrimp allergy	Farfantepenaeus aztecus allergy	A crustacean allergy triggered by Farfantepenaeus ..[+] A crustacean allergy triggered by Farfantepenaeus aztecus. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
cerebral cavernous malformation	familial cavernous angioma; cavernous angiomatous .. [+] familial cavernous angioma; cavernous angiomatous malformations; CCM; cerebral capillary malformations [-]	A vascular anomaly of the central nervous system c..[+] A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support. [-]
hyperekplexia	familial startle disease; congenital stiff man syn.. [+] familial startle disease; congenital stiff man syndrome; hereditary hyperekplexia; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]	6 articles
Muenke Syndrome	FGFR3-related craniosynostosis	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]
syndromic X-linked intellectual disability 5	Fried syndrome; MRX59; MRXS21; Pettigrew syndrome; .. [+] Fried syndrome; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked mental retardation 59; Mental retardation, X-linked syndromic 5; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
hereditary neuropathy with liability to pressure palsies	familial recurrent polyneuropathy; current pressur.. [+] familial recurrent polyneuropathy; current pressure-sensitive neuropathy; HNPP; tomaculous neuropathy; heterozygous microdeletion 17p11.2p12; potato-grubbing palsy; tulip-bulb digger's palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
developmental and epileptic encephalopathy 9	female restricted epilepsy with mental retardation.. [+] female restricted epilepsy with mental retardation; early infantile female-limited epilecptic encephalopathy; EFMR; EIEE9; DEE9; early infantile epileptic encephalopathy 9; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
pemphigus vulgaris	familial pemphigus vulgaris	A pemphigus characterized by autosomal dominant bl..[+] A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. [-]
isolated growth hormone deficiency	familial isolated growth hormone deficiency; conge.. [+] familial isolated growth hormone deficiency; congenital isolated GH deficiency; non-acquired isolated growth hormone deficiency; congenital isolated growth hormone deficiency; congenital IGHD; IGHD [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type III	Fleisher syndrome; congenital isolated GH deficien.. [+] Fleisher syndrome; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; X-linked hypogammaglobulinemia and isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
renal hypomagnesemia 3	FHHNC without severe ocular involvement; familial .. [+] FHHNC without severe ocular involvement; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; renal hypomagnesemia type 3 [-]	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. [-]
renal hypomagnesemia 5 with ocular involvement	FHHNC with severe ocular involvement; familial hyp.. [+] FHHNC with severe ocular involvement; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; bilateral macular coloboma with hypercalciuria; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
legume allergy	Fabaceae allergy	A fruit allergy triggered by Fabaceae (legume) pla..[+] A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. [-]
ITM2B-related cerebral amyloid angiopathy 1	Familial British Dementia; FBD; Cerebral Amyloid A.. [+] FBD; Familial British Dementia; Cerebral Amyloid Angiopathy, British Type; Presenile Dementia with Spastic Ataxia [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
ITM2B-related cerebral amyloid angiopathy 2	Familial Danish Dementia; FDD; Cerebellar Ataxia, .. [+] FDD; Familial Danish Dementia; Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
Coffin-Siris syndrome 1	fifth digit syndrome; autosomal dominant mental re.. [+] fifth digit syndrome; autosomal dominant mental retardation 12; CSS1; MRD12 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. [-]
progressive familial intrahepatic cholestasis 1	FIC1 deficiency; PFIC1	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]
primary coenzyme Q10 deficiency 6	familial steroid-resistant nephrotic syndrome with.. [+] familial steroid-resistant nephrotic syndrome with sensorineural deafness; coenzyme Q10 deficiency, primary, 6; COQ10D6 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. [-]
multiple mitochondrial dysfunctions syndrome	fatal multiple mitochondrial dysfunction syndrome; .. [+] fatal multiple mitochondrial dysfunction syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment. [-]
spinal neurofibromatosis	FNSF; familial spinal neurofibromatosis; SNF	A neurofibromatosis 1 characterized by bilateral n..[+] A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. [-]
myofibrillar myopathy 5	filaminopathy	n_a
mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. [-]
mitochondrial DNA depletion syndrome 13	FBXL4-related encephalomyopathic mitochondrial DNA.. [+] FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; FBXL4 deficiency; mitochondrial DNA depletion syndrome 13, encephalomyopathic type [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. [-]
bicuspid aortic valve disease	Familial bicuspid aortic valve	An aortic valve disease that is characterized by t..[+] An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. [-]
mitochondrial complex IV deficiency nuclear type 2	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; MC4DN2 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. [-]
mitochondrial complex IV deficiency nuclear type 6	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2; MC4DN6 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. [-]
mitochondrial complex IV deficiency nuclear type 9	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3; MC4DN9 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. [-]
mitochondrial complex IV deficiency nuclear type 13	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4; MC4DN13 [-]	A COX deficiency, infantile mitochondrial myopathy..[+] A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. [-]

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